Disease Related Membrane Transporters
Click on gene names below to find out detailed info about diseases.
|
1:
TAP1 |
transporter 1,
ATP-binding cassette, sub-family B (MDR/TAP) [Homo sapiens]
Other
Aliases: HGNC:43,
ABC17, ABCB2, APT1, D6S114E, PSF1, RING4, TAP1*0102N, TAP1N, Unknown
Other
Designations: ABC transporter, MHC 1;
ATP-binding cassette transporter; ATP-binding cassette, sub-family B (MDR/TAP),
member 2; ATP-binding cassette, sub-family B, member 2; antigen peptide
transporter 1; peptide supply factor 1; transporter 1, ATP-binding cassette,
sub-family B; transporter associated with antigen processing; transporter,
ATP-binding cassette, major histocompatibility
complex, 1
Chromosome:
6; Location: 6p21.3
GeneID: 6890
|
2:
SLC1A2 |
solute carrier
family 1 (glial high affinity glutamate transporter),
member 2 [Homo sapiens]
Other
Aliases: HGNC:10940,
EAAT2, GLT-1
Other
Designations: H.sapiens mRNA for glutamate transporter; dJ68D18.1.1 (solute
carrier family 1 (glial high affinity glutamate
transporter) member 2); dJ68D18.1.2 (solute carrier family 1 (glial high affinity glutamate transporter) member 2);
excitatory amino acid transporter 2; glial high
affinity glutamate transporter; glutamate/aspartate
transporter II; solute carrier family 1, member 2
Chromosome:
11; Location: 11p13-p12
GeneID: 6506
|
3:
TAP2 |
transporter 2,
ATP-binding cassette, sub-family B (MDR/TAP) [Homo sapiens]
Other
Aliases: HGNC:44,
ABC18, ABCB3, APT2, D6S217E, PSF2, RING11
Other Designations:
ABC transporter, MHC 2; ATP-binding
cassette, sub-family B (MDR/TAP), member 3; TAP2 protein; antigen peptide
transporter 2; peptide supply factor 2; peptide transporter PSF2; transporter
2, ABC (ATP binding cassette); transporter 2, ATP-binding cassette, sub-family
B
Chromosome:
6; Location: 6p21.3
GeneID: 6891
|
4:
SLC6A4 |
solute carrier
family 6 (neurotransmitter transporter, serotonin), member 4 [Homo sapiens]
Other
Aliases: HGNC:11050,
5-HTT, OCD1, SERT
Other
Designations: 5-hydroxytryptamine
transporter; 5HT transporter; Na+/Cl- dependent
serotonin transporter; sodium-dependent serotonin transporter;
solute carrier family 6 member 4
Chromosome:
17; Location: 17q11.1-q12
GeneID: 6532
|
5:
SLC22A18 |
solute carrier
family 22 (organic cation transporter), member 18 [Homo
sapiens]
Other
Aliases: HGNC:10964,
BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5, p45-BWR1A
Other
Designations: Beckwith-Wiedemann
syndrome chromosome region 1, candidate A; efflux transporter-like protein;
imprinted multi-membrane spanning polyspecific
transporter-related protein; organic cation
transporter-like 2; p45 Beckwith-Wiedemann region 1A;
solute carrier family 22 (organic cation
transporter), member 1-like; tumor suppressing subtransferable
candidate 5; tumor-suppressing STF cDNA 5
Chromosome:
11; Location: 11p15.5
GeneID: 5002
|
6:
SLC6A19 |
solute carrier
family 6 (neurotransmitter transporter), member 19 [Homo sapiens]
Other
Aliases: HGNC:27960,
HND
Other
Designations: amino acid transporter
system B0; sodium-dependent amino acid transporter; system B0 neutral amino
acid transporter
Chromosome:
5; Location: 5p15.33
GeneID: 340024
|
7:
SLC37A4 |
solute carrier
family 37 (glycerol-6-phosphate transporter), member 4 [Homo sapiens]
Other
Aliases: HGNC:4061,
G6PT1, GSD1b, MGC15729, PRO0685, TRG19
Other
Designations: Glucose-6-phosphate
transporter-1; glucose-6-phosphatase, transport (glucose-6-phosphate) protein
1; microsomal glucose-6-phosphate transporter
Chromosome:
11; Location: 11q23.3
GeneID: 2542
|
8:
ABCA4 |
ATP-binding
cassette, sub-family A (ABC1), member 4 [Homo sapiens]
Other
Aliases: HGNC:34,
ABC10, ABCR, FFM, RMP, RP19, STGD, STGD1
Other
Designations: ATP binding cassette transporter;
ATP-binding cassette, sub-family A member 4;
ATP-binding transporter, retina-specific; retina-specific ABC transporter; rim
protein
Chromosome:
1; Location: 1p22.1-p21
GeneID: 24
|
9: ABCA1 |
ATP-binding
cassette, sub-family A (ABC1), member 1 [Homo sapiens]
Other
Aliases: HGNC:29,
ABC-1, ABC1, CERP, HDLDT1, TGD
Other
Designations: ATP binding cassette
transporter 1; ATP-binding cassette 1; ATP-binding cassette transporter-1;
ATP-binding cassette, sub-family A member 1; cholesterol efflux regulatory
protein; high density lipoprotein deficiency, Tangier type, 1; membrane-bound
Chromosome:
9; Location: 9q31.1
GeneID: 19
|
10:
SLC22A5 |
solute carrier
family 22 (organic cation transporter), member 5 [Homo
sapiens]
Other
Aliases: HGNC:10969,
OCTN2
Other
Designations: high-affinity sodium
dependent carnitine cotransporter;
organic cation transporter 5; organic cation/carnitine transporter 2; solute carrier family 22
member 5
Chromosome:
5; Location: 5q31
GeneID: 6584
|
11:
SLC26A2 |
solute carrier
family 26 (sulfate transporter), member 2 [Homo sapiens]
Other
Aliases: HGNC:10994,
D5S1708, DTD, DTDST, EDM4, MST153, MSTP157
Other
Designations: diastrophic dysplasia sulfate transporter; solute carrier family 26
member 2; sulfate anion transporter 1
Chromosome:
5; Location: 5q31-q34
GeneID: 1836
|
12:
ATP7B |
ATPase, Cu++
transporting, beta polypeptide (
Other
Aliases: HGNC:870,
PWD, WC1, WND
Other
Designations: ATPase, Cu++ transporting, beta polypeptide;
Chromosome:
13; Location: 13q14.3
GeneID: 540
|
13: APOE |
apolipoprotein E [Homo sapiens]
Other
Aliases: HGNC:613,
AD2, MGC1571, apoprotein
Other
Designations: Alzheimer disease 2 (APOE*E4-associated,
late onset); apolipoprotein E precursor; apolipoprotein E3
Chromosome:
19; Location: 19q13.2
GeneID: 348
|
14:
G6PC |
glucose-6-phosphatase,
catalytic (glycogen storage disease type I, von Gierke
disease) [Homo sapiens]
Other
Aliases: HGNC:4056,
G6PT, GSD1a
Other Designations:
Glucose-6-phosphatase, catalytic;
glucose-6-phosphatase, catalytic
Chromosome:
17; Location: 17q21
GeneID: 2538
|
15: NCF1 |
neutrophil cytosolic factor 1 (47kDa,
chronic granulomatous disease, autosomal
1) [Homo sapiens]
Other
Aliases: HGNC:7660,
NOXO2, p47phox
Other
Designations: Neutrophil cytosolic factor-1 (47kD); neutrophil cytosolic factor 1; neutrophil cytosolic factor 1
(47kD, chronic granulomatous disease, autosomal 1)
Chromosome:
7; Location: 7q11.23
GeneID: 4687
|
16:
SLC17A5 |
solute carrier
family 17 (anion/sugar transporter), member 5 [Homo sapiens]
Other
Aliases: HGNC:10933,
AST, ISSD,
Other
Designations: sialic acid storage disease; solute carrier family 17, member 5
Chromosome:
6; Location: 6q14-q15
GeneID: 26503
|
17:
NCF2 |
neutrophil cytosolic factor 2 (65kDa,
chronic granulomatous disease, autosomal
2) [Homo sapiens]
Other
Aliases: HGNC:7661,
NOXA2, P67-PHOX, p67phox
Other
Designations: neutrophil cytosolic factor 2; neutrophil cytosolic factor 2
(65kD, chronic granulomatous disease, autosomal 2)
Chromosome:
1; Location: 1q25
GeneID: 4688
|
18:
SLC6A3 |
solute carrier
family 6 (neurotransmitter transporter, dopamine), member 3 [Homo sapiens]
Other
Aliases: HGNC:11049,
DAT, DAT1
Other
Designations: dopamine transporter;
variable number tandem repeat (VNTR)
Chromosome:
5; Location: 5p15.3
GeneID: 6531
|
19: NPC1 |
Niemann-Pick
disease, type C1 [Homo sapiens]
Other
Aliases: HGNC:7897,
NPC
Chromosome:
18; Location: 18q11-q12
GeneID: 4864
|
20:
ABCG2 |
ATP-binding
cassette, sub-family G (WHITE), member 2 [Homo sapiens]
Other
Aliases: HGNC:74,
ABC15, ABCP, BCRP, BCRP1, BMDP, EST157481, MRX, MXR, MXR1
Other
Designations: ABC transporter; ATP-binding
cassette sub-family G (WHITE) member 2; ATP-binding cassette transporter G2;
ATP-binding cassette, sub-family G, member 2; breast cancer resistance protein;
mitoxantrone resistance protein; placenta specific
MDR protein
Chromosome:
4; Location: 4q22
GeneID: 9429
|
21:
SLC22A4 |
solute carrier
family 22 (organic cation transporter), member 4 [Homo
sapiens]
Other
Aliases: HGNC:10968,
MGC34546, OCTN1
Other
Designations: integral membrane transport
protein; organic cation transporter 4; solute carrier
family 22 member 4
Chromosome:
5; Location: 5q23.3
GeneID: 6583
|
22: HD |
huntingtin (
Other
Aliases: HGNC:4851,
IT15
Other
Designations: huntingtin
Chromosome:
4; Location: 4p16.3
GeneID: 3064
|
23:
ATP7A |
ATPase, Cu++
transporting, alpha polypeptide (Menkes syndrome) [Homo
sapiens]
Other
Aliases: HGNC:869,
MK, MNK, OHS
Other
Designations: ATPase, Cu++ transporting, alpha polypeptide; Menkes
disease-associated protein; copper pump 1; copper-transporting ATPase 1
Chromosome:
X; Location: Xq13.2-q13.3
GeneID: 538
|
24:
PHYH |
phytanoyl-CoA hydroxylase (Refsum
disease) [Homo sapiens]
Other
Aliases: HGNC:8940,
PAHX
Other
Designations: phytanic acid oxidase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA
2-hydroxylase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA dioxygenase, peroxisomal
precursor; phytanoyl-CoA hydroxylase
Chromosome:
10; Location: 10pter-p11.2
GeneID: 5264
|
25:
CYBB |
cytochrome b-245, beta polypeptide (chronic granulomatous
disease) [Homo sapiens]
Other
Aliases: HGNC:2578,
CGD, GP91-1, GP91-PHOX, GP91PHOX, NOX2
Chromosome:
X; Location: Xp21.1
GeneID: 1536
|
26: SNCA |
synuclein, alpha (non A4 component of amyloid
precursor) [Homo sapiens]
Other
Aliases: HGNC:11138,
NACP, PARK1, PARK4, PD1
Other
Designations: alpha-synuclein;
non A-beta component of AD amyloid; non A4 component
of amyloid precursor
Chromosome:
4; Location: 4q21
GeneID: 6622
|
27:
ABCC5 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 5 [Homo sapiens]
Other
Aliases: HGNC:56,
ABC33, EST277145, MOAT-C, MOATC, MRP5, SMRP, pABC11
Other
Designations: ATP-binding cassette,
sub-family C, member 5; canalicular multispecific organic anion transporter C
Chromosome:
3; Location: 3q27
GeneID: 10057
|
28:
SLC30A4 |
solute carrier
family 30 (zinc transporter), member 4 [Homo sapiens]
Other
Aliases: HGNC:11015,
ZNT4
Chromosome:
15; Location: 15q21.1
GeneID: 7782
|
29:
SLC1A3 |
solute carrier
family 1 (glial high affinity glutamate transporter),
member 3 [Homo sapiens]
Other
Aliases: HGNC:10941,
EAAT1, GLAST, GLAST1
Chromosome:
5; Location: 5p13
GeneID: 6507
|
30:
SLC31A1 |
solute carrier
family 31 (copper transporters), member 1 [Homo sapiens]
Other
Aliases: HGNC:11016,
COPT1, CTR1, hCTR1
Other
Designations: copper transporter 1
Chromosome:
9; Location: 9q31-q32
GeneID: 1317
|
31:
SLC27A1 |
solute carrier
family 27 (fatty acid transporter), member 1 [Homo sapiens]
Other
Aliases: HGNC:10995,
FATP, FATP1, FLJ00336, MGC71751
Chromosome:
19; Location: 19p13.11
GeneID: 376497
|
32: ATP8B1 |
ATPase, Class I,
type 8B, member 1 [Homo sapiens]
Other Aliases:
HGNC:3706, ATPIC,
BRIC, FIC1, PFIC, PFIC1
Other
Designations: E1-E2 ATPase;
benign recurrent intrahepatic cholestasis;
familial intrahepatic cholestasis
type 1; phospholipid-transporting ATPase
IC; progressive familial intrahepatic cholestasis 1, Byler disease
Chromosome:
18; Location: 18q21.31
GeneID: 5205
|
33:
CYBA |
cytochrome b-245, alpha polypeptide [Homo sapiens]
Other
Aliases: HGNC:2577
Other
Designations: cytochrome b light chain; cytochrome b(558) alpha-subunit; cytochrome
b, alpha polypeptide; flavocytochrome b-558 alpha
polypeptide; p22-phox
Chromosome:
16; Location: 16q24
GeneID: 1535
|
34: A2M |
alpha-2-macroglobulin
[Homo sapiens]
Other
Aliases: HGNC:7
Chromosome:
12; Location: 12p13.3-p12.3
GeneID: 2
|
35:
ATP2C1 |
ATPase, Ca++
transporting, type 2C, member 1 [Homo sapiens]
Other
Aliases: HGNC:13211,
ATP2C1A, BCPM, HHD, KIAA1347, PMR1L, SPCA1, hSPCA1
Other
Designations: ATP-dependent Ca(2+) pump PMR1; ATPase 2C1; ATPase, Ca(2+)-sequestering; HUSSY-28; calcium-transporting
ATPase 2C1; secretory
pathway Ca2+/Mn2+ ATPase
Chromosome:
3; Location: 3q22.1
GeneID: 27032
|
36: RYR1 |
ryanodine receptor 1 (skeletal) [Homo sapiens]
Other
Aliases: HGNC:10483,
CCO, MHS, MHS1, RYDR, RYR
Other
Designations: ryanodine receptor type1; sarcoplasmic
reticulum calcium release channel
Chromosome:
19; Location: 19q13.1
GeneID: 6261
|
37:
RHCE |
Rhesus
blood group, CcEe antigens [Homo sapiens]
Other
Aliases: HGNC:10008,
RH, RH30A, RHC, RHD, RHD/RHCE, RHE, RHIXB, RHPI, Rh4, RhIVb(J),
RhVI, RhVIII
Other
Designations: RHD allele encoding weak D
expression; Rh blood group C antigen; Rh blood group D antigen; Rh
blood group antigen Evans; Rh blood group antigen RhD; Rh polypeptide I; RhCE protein; RhD protein; Rhesus
blood group D antigen; Rhesus blood group D/CE hybrid antigen; Rhesus blood
group, D antigen; Rhesus system C and E polypeptides; membrane protein RhCe; mutant membrane protein RhCe;
rhesus D category VI type III protein; truncated RhD
Chromosome:
1; Location: 1p36.11
GeneID: 6006
|
38:
LPA |
lipoprotein, Lp(a) [Homo sapiens]
Other
Aliases: HGNC:6667,
AK38, APOA, LP
Other
Designations: Apolipoprotein Lp(a); antiangiogenic AK38 protein; apolipoprotein(a); kringle IV-10;
kringle IV-5; kringle IV-6;
kringle IV-9
Chromosome:
6; Location: 6q26-q27
GeneID: 4018
|
39:
ATP2A2 |
ATPase, Ca++
transporting, cardiac muscle, slow twitch 2 [Homo sapiens]
Other
Aliases: HGNC:812,
ATP2B, DAR, DD, MGC45367, SERCA2
Other
Designations: ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2; SR Ca(2+)-ATPase 2; calcium pump 2; calcium-transporting ATPase sarcoplasmic reticulum
type, slow twitch skeletal muscle isoform;
endoplasmic reticulum class 1/2 Ca(2+) ATPase; sarcoplasmic/endoplasmic reticulum calcium ATPase 2
Chromosome:
12; Location: 12q23-q24.1
GeneID: 488
|
40: ABCB1 |
ATP-binding
cassette, sub-family B (MDR/TAP), member 1 [Homo sapiens]
Other
Aliases: HGNC:40,
ABC20, CD243, CLCS, GP170, MDR1, P-gp, PGY1
Other
Designations: ATP-binding cassette sub-family
B member 1; P glycoprotein 1; P-glycoprotein 1; colchicin
sensitivity; doxorubicin resistance; multidrug
resistance 1
Chromosome:
7; Location: 7q21.1
GeneID: 5243
|
41:
ABCC1 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 1 [Homo sapiens]
Other
Aliases: HGNC:51,
ABC29, ABCC, GS-X, MRP, MRP1
Other
Designations: ATP-binding cassette,
sub-family C, member 1; multidrug resistance protein;
multiple drug resistance protein 1; multiple drug resistance-associated protein
Chromosome:
16; Location: 16p13.1
GeneID: 4363
|
42: NOS3 |
nitric oxide synthase 3 (endothelial cell) [Homo sapiens]
Other
Aliases: HGNC:7876,
ECNOS, NOS III, eNOS
Other
Designations: endothelial nitric oxidase synthase; endothelial
nitric oxide synthase
Chromosome:
7; Location: 7q36
GeneID: 4846
|
43:
ANKH |
ankylosis, progressive homolog (mouse) [Homo sapiens]
Other
Aliases: HGNC:15492,
ANK, CCAL2, CMDJ, CPPDD, HANK, MANK
Other
Designations: ankylosis, progressive homolog
Chromosome:
5; Location: 5p15.1
GeneID: 56172
|
44:
ABCD1 |
ATP-binding
cassette, sub-family D (ALD), member 1 [Homo sapiens]
Other
Aliases: HGNC:61,
ABC42, ALD, ALDP, AMN
Other
Designations: adrenoleukodystrophy; adrenoleukodystrophy protein;
mutant adrenoleukodystrophy protein
Chromosome:
X; Location: Xq28
GeneID: 215
|
45: CFTR |
cystic fibrosis transmembrane conductance regulator, ATP-binding cassette
(sub-family C, member 7) [Homo sapiens]
Other
Aliases: HGNC:1884,
ABC35, ABCC7, CF, MRP7, TNR-CFTR, dJ760C5.1
Other
Designations: ATP-binding cassette,
sub-family C member 7; CFTR/MRP
Chromosome:
7; Location: 7q31.2
GeneID: 1080
|
46:
SLC11A1 |
solute carrier
family 11 (proton-coupled divalent metal ion transporters), member 1 [Homo
sapiens]
Other
Aliases: HGNC:10907,
LSH, NRAMP, NRAMP1
Other
Designations: natural
resistance-associated macrophage protein 1; natural resistance-associated
macrophage protein 1 (might include Leishmaniasis);
solute carrier family 11 (sodium/phosphate symporters),
member 1
Chromosome:
2; Location: 2q35
GeneID: 6556
|
47: LPL |
lipoprotein lipase
[Homo sapiens]
Other
Aliases: HGNC:6677,
LIPD
Chromosome:
8; Location: 8p22
GeneID: 4023
|
48: APOA1 |
apolipoprotein A-I [Homo sapiens]
Other
Aliases: HGNC:600
Other Designations:
amyloidosis; apolipoprotein A1
Chromosome:
11; Location: 11q23-q24
GeneID: 335
|
49:
SLC18A2 |
solute carrier
family 18 (vesicular monoamine), member 2 [Homo sapiens]
Other
Aliases: HGNC:10935,
SVAT, SVMT, VAT2, VMAT2
Chromosome:
10; Location: 10q25
GeneID: 6571
|
50:
SLC26A4 |
solute carrier
family 26, member 4 [Homo sapiens]
Other
Aliases: HGNC:8818,
DFNB4, PDS
Other
Designations: pendrin
Chromosome:
7; Location: 7q31
GeneID: 5172
|
51:
ABCD2 |
ATP-binding
cassette, sub-family D (ALD), member 2 [Homo sapiens]
Other
Aliases: HGNC:66,
ABC39, ALDL1, ALDR, ALDRP, hALDR
Other
Designations: ATP-binding cassette,
sub-family D, member 2; adrenoleukodystrophy-like 1
Chromosome:
12; Location: 12q11-q12
GeneID: 225
|
52: ABCC9 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 9 [Homo sapiens]
Other
Aliases: HGNC:60,
ABC37, SUR2
Other
Designations: ATP-binding cassette,
sub-family C, member 9; sulfonylurea receptor 2A
Chromosome:
12; Location: 12p12.1
GeneID: 10060
|
53: NOS2A |
nitric oxide synthase 2A (inducible, hepatocytes)
[Homo sapiens]
Other
Aliases: HGNC:7873,
HEP-NOS, INOS, NOS, NOS2
Other
Designations: NOS, type II; nitric oxide synthase 2A; nitric oxide synthase,
macrophage
Chromosome:
17; Location: 17q11.2-q12
GeneID: 4843
|
54: ABCC8 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 8 [Homo sapiens]
Other
Aliases: HGNC:59,
ABC36, HI, HRINS, MRP8, PHHI, SUR, SUR1
Other
Designations: ATP-binding cassette,
sub-family C, member 8; Sulfonylurea receptor; sulfonylurea receptor (hyperinsulinemia)
Chromosome:
11; Location: 11p15.1
GeneID: 6833
|
55:
ABCC6 |
ATP-binding
cassette, sub-family C (CFTR/MRP), member 6 [Homo sapiens]
Other
Aliases: HGNC:57,
ABC34, ARA, EST349056, MLP1, MOATE, MRP6, PXE
Other
Designations: ATP-binding cassette,
sub-family C, member 6; anthracycline
resistance-associated
Chromosome:
16; Location: 16p13.1
GeneID: 368
|
56:
ABCB11 |
ATP-binding
cassette, sub-family B (MDR/TAP), member 11 [Homo sapiens]
Other
Aliases: HGNC:42,
ABC16, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Other
Designations: ABC member 16, MDR/TAP
subfamily; bile salt export pump; progressive familial intrahepatic
cholestasis 2; sister p-glycoprotein
Chromosome:
2; Location: 2q24
GeneID: 8647
|
57:
TCN2 |
transcobalamin II; macrocytic anemia [Homo
sapiens]
Other
Aliases: HGNC:11653,
D22S676, D22S750, TC2
Other
Designations: transcobalamin II
Chromosome:
22; Location: 22q12.2
GeneID: 6948
|
58: MAOB |
monoamine oxidase B [Homo sapiens]
Other
Aliases: HGNC:6834,
MGC26382
Other
Designations: MAO, brain; MAO, platelet;
adrenalin oxidase; amine oxidase
(flavin-containing); tyramine
oxidase
Chromosome:
X; Location: Xp11.23
GeneID: 4129
|
59: IGF1 |
insulin-like growth
factor 1 (somatomedin C) [Homo sapiens]
Other
Aliases: HGNC:5464,
IGFI
Other
Designations: insulin-like growth factor 1
(somatomedia C)
Chromosome:
12; Location: 12q22-q23
GeneID: 3479
|
60: LIPC |
lipase, hepatic [Homo
sapiens]
Other
Aliases: HGNC:6619,
HL, HTGL, LIPH
Other
Designations: lipase C
Chromosome:
15; Location: 15q21-q23
GeneID: 3990
|
61:
APOD |
apolipoprotein D [Homo sapiens]
Other
Aliases: HGNC:612
Chromosome:
3; Location: 3q26.2-qter
GeneID: 347
|
62: HLA-B |
major histocompatibility complex, class I, B [Homo sapiens]
Other
Aliases: HGNC:4932, B-1510, B-3501, HLA,
HLA B-1517, HLA-A, HLA-B*07ML, HLA-B*1513, HLA-B*1514, HLA-B*1518, HLA-B*1521,
HLA-B*1528, HLA-B*3512, HLA-B*3801, HLA-B*4202, HLA-B*4402, HLA-B-1516,
HLA-B-1521, HLA-B35, HLA-B4007, HLA-B41, HLA-B71, HLA-Bw62.1, HLA-Bw62.3,
HLA-Bw62.4, HLA-Bw62.5, HLA-C, HLA-Cw, beta-chain
Other
Designations: Allele: HLA-B*1522; B*07021
allele; B*0716 allele; B*07AE allele; B*15 allele; B*1517 allele; B*1554
allele; B*1557 allele; B*27054 allele; B*2715 allele; B*2717 allele; B*3516
allele; B*3517 allele; B*3530 allele; B*5106 allele; B*5107 allele; B*5201
allele; B-1510-new allele; B-3502new allele; HLA class I; HLA class I B locus
allele; HLA class I histocompatibility antigen, B
alpha chain; HLA-B alpha-chain; HLA-B alpha1 and alpha2 domain; HLA-B alpha1
and alpha2 domains; HLA-B*08 allele; HLA-B*08 new allele; HLA-B*1524 allele;
HLA-B*1530 allele; HLA-B*1535 allele; HLA-B*4202 alpha1 and alpha2 domains;
HLA-B-07ZEL allele; HLA-B-0802 allele; HLA-B-1517 allele; HLA-B-1520 allele;
HLA-B-15AOH allele; HLA-B15/B55 recombinant; HLA-B1501V2; HLA-Bw62 antigen;
Human leucocyte antigen B; MHC HLA B71; MHC HLA-B
cell surface glycoprotein; MHC cell surface glycoprotein; MHC class I; MHC
class I HLA-B; MHC class I HLA-B antigen; MHC class I HLA-B heavy chain; MHC
class I HLA-B*1520; MHC class I HLA-B*1523; MHC class I HLA-Bw62; MHC class I
antigen; MHC class I antigen GN00103; MHC class I antigen HLA-B; MHC class I
antigen HLA-B35; MHC class I antigen precusor; MHC
class I lymphocyte antigen; MHC class I protein HLA-B heavy chain; MHC class
I-like alpha chain membrane-bound type; MHC class antigen I; allele B*07XX,
unique identifier 10009909; allele B-3515; allele HLA-B*1504; allele:
HLA-B*1532; allele: HLA-B1501V4; allele:HLA-B*07v; allele:HLA-B*4804; allele:HLA-B1301V1(HLA-null);
allele:HLA-B1501V2; allele:HLA-B1511V1; allele:HLA-B4002V; antigen presenting
molecule; coding sequence; glycosylation aa 86, alpha domain 1 aa 25-114,
alpha domain 2 aa 115-206, alpha domain 3 aa 207-298; hla antigen;
homologous to M28203; human leucocyte antigen;
leukocyte antigen; lymphocyte antigen; major histocompatability
complex B; major histocompatibility complex class I;
new HLA-B35 allele HLA-B*3509; transmembrane
glycoprotein
Chromosome:
6; Location: 6p21.3
GeneID: 3106
|
63: ABCB4 |
ATP-binding
cassette, sub-family B (MDR/TAP), member 4 [Homo sapiens]
Other
Aliases: HGNC:45,
ABC21, MDR2/3, MDR3, PFIC-3, PGY3
Other
Designations: ATP-binding cassette,
subfamily B, member 4; P glycoprotein 3/multiple drug resistance 3;
P-glycoprotein-3/multiple drug resistance-3; multiple drug resistance 3
Chromosome:
7; Location: 7q21.1
GeneID: 5244
|
64:
SLC4A1 |
solute carrier
family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego
blood group) [Homo sapiens]
Other
Aliases: HGNC:11027,
AE1, BND3, CD233, DI, EMPB3, EPB3, RTA1A, WD, WD1
Other
Designations: Waldner blood group; anion exchange protein 1; anion exchanger 1; erythroid anion exchange protein
Chromosome:
17; Location: 17q21-q22
GeneID: 6521
|
65: ERBB2 |
v-erb-b2 erythroblastic leukemia viral oncogene
homolog 2, neuro/glioblastoma derived oncogene homolog (avian) [Homo sapiens]
Other
Aliases: HGNC:3430,
HER-2, HER-2/neu, HER2, NEU, NGL, TKR1, c-erb B2
Other
Designations: c-erb
B2/neu protein; erbB-2; herstatin; neuroblastoma/glioblastoma derived oncogene
homolog; tyrosine kinase-type cell surface receptor
Chromosome:
17; Location: 17q21.1
GeneID: 2064
|
66:
APOC3 |
apolipoprotein C-III [Homo sapiens]
Other
Aliases: HGNC:610,
APOCIII
Chromosome:
11; Location: 11q23.1-q23.2
GeneID: 345
|
67: APOB |
apolipoprotein B (including Ag(x) antigen) [Homo sapiens]
Other
Aliases: HGNC:603,
FLDB
Other
Designations: apoB-100; apoB-48; apolipoprotein B; apolipoprotein
B48
Chromosome:
2; Location: 2p24-p23
GeneID: 338
|
68:
FXN |
frataxin [Homo sapiens]
Other
Aliases: HGNC:3951,
FA, FARR, FRDA, MGC57199, X25
Other
Designations: Friedreich ataxia
Chromosome:
9; Location: 9q13-q21.1
GeneID: 2395
|
69: MMP2 |
matrix metalloproteinase
2 (gelatinase A, 72kDa gelatinase,
72kDa type IV collagenase) [Homo sapiens]
Other
Aliases: HGNC:7166,
CLG4, CLG4A, TBE-1
Other
Designations: 72kD type IV collagenase; gelatinase A; gelatinase neutrophil; matrix
metalloproteinase 2; matrix metalloproteinase 2 (gelatinase
A, 72kD gelatinase, 72kD type IV collagenase)
Chromosome:
16; Location: 16q13-q21
GeneID: 4313
|
70:
SLC29A1 |
solute carrier
family 29 (nucleoside transporters), member 1 [Homo sapiens]
Other
Aliases: HGNC:11003,
ENT1
Chromosome:
6; Location: 6p21.1-p21.2
GeneID: 2030
|
71:
PRDX2 |
peroxiredoxin 2 [Homo sapiens]
Other
Aliases: HGNC:9353,
MGC4104, NKEFB, PRP, PRXII, TDPX1, TSA
Other
Designations: natural killer-enhancing
factor B; thiol-specific antioxidant 1; thioredoxin peroxidase 1; thioredoxin-dependent peroxide reductase
1; torin
Chromosome:
19; Location: 19p13.2
GeneID: 7001
|
72: STX1A |
syntaxin 1A (brain) [Homo sapiens]
Other
Aliases: HGNC:11433,
HPC-1, STX1, p35-1
Chromosome:
7; Location: 7q11.23
GeneID: 6804
|
73:
SRD5A1 |
steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta
4-dehydrogenase alpha 1) [Homo sapiens]
Other
Aliases: HGNC:11284
Other
Designations: 3-oxo-5 alpha-steroid delta
4-dehydrogenase alpha 1; 5-alpha reductase; steroid
5-alpha-reductase type I; steroid-5-alpha-reductase 1
Chromosome:
5; Location: 5p15
GeneID: 6715
|
74: GRIN2B |
glutamate receptor,
ionotropic, N-methyl D-aspartate
2B [Homo sapiens]
Other
Aliases: HGNC:4586,
NMDAR2B, NR2B, hNR3
Other
Designations: N-methyl-D-aspartate receptor subunit 2B
Chromosome:
12; Location: 12p12
GeneID: 2904
|
75:
ATP5J |
ATP synthase, H+ transporting, mitochondrial F0 complex,
subunit F6 [Homo sapiens]
Other
Aliases: HGNC:847,
ATP5, ATPM, CF6, F6
Other
Designations: mitochondrial ATP synthase, coupling factor 6; mitochondrial ATP synthase, subunit F6; mitochondrial ATPase
coupling factor 6
Chromosome:
21; Location: 21q21.1
GeneID: 522
|
76:
SYT11 |
synaptotagmin XI [Homo sapiens]
Other
Aliases: HGNC:19239,
KIAA0080, MGC10881, MGC17226, SYT12
Other
Designations: synaptotagmin 12
Chromosome:
1; Location: 1q21.2
GeneID: 23208
|
77: LRP1 |
low density
lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) [Homo sapiens]
Other
Aliases: HGNC:6692,
A2MR, APOER, APR, CD91, LRP
Other
Designations: alpha-2-macroglobulin
receptor; low density lipoprotein-related protein 1
Chromosome:
12; Location: 12q13-q14
GeneID: 4035
|
78:
ATOX1 |
ATX1
antioxidant protein 1 homolog (yeast) [Homo sapiens]
Other
Aliases: HGNC:798,
ATX1, HAH1
Other
Designations: ATX1 (antioxidant protein 1,
yeast) homolog 1; antioxidant protein 1; copper transport protein; metal
transport protein
Chromosome:
5; Location: 5q32
GeneID: 475
|
79: CYP19A1 |
cytochrome P450, family 19, subfamily A, polypeptide 1 [Homo
sapiens]
Other
Aliases: HGNC:2594,
ARO, ARO1, CPV1, CYAR, CYP19, P-450AROM
Other
Designations: aromatase; cytochrome P450, family 19; cytochrome P450, subfamily XIX (aromatization of
androgens); estrogen synthetase; flavoprotein-linked
monooxygenase; microsomal monooxygenase
Chromosome:
15; Location: 15q21.1
GeneID: 1588
|
80:
APOA4 |
apolipoprotein A-IV [Homo sapiens]
Other
Aliases: HGNC:602
Chromosome:
11; Location: 11q23
GeneID: 337
|
81: ALDH2 |
aldehyde dehydrogenase 2 family
(mitochondrial) [Homo sapiens]
Other
Aliases: HGNC:404,
ALDH-E2, ALDHI, ALDM, MGC1806
Other
Designations: ALDH class 2; acetaldehyde dehydrogenase 2; liver mitochondrial ALDH; mitochondrial aldehyde dehydrogenase 2;
nucleus-encoded mitochondrial aldehyde dehydrogenase 2
Chromosome:
12; Location: 12q24.2
GeneID: 217
|
82: TTN |
titin [Homo sapiens]
Other
Aliases: HGNC:12403,
CMD1G, CMPD4, FLJ32040, LGMD2J, TMD
Other
Designations: CMH9, included; cardiomyopathy, dilated 1G (autosomal
dominant); connectin
Chromosome:
2; Location: 2q31
GeneID: 7273
|
83:
NOS1 |
nitric oxide synthase 1 (neuronal) [Homo sapiens]
Other
Aliases: HGNC:7872,
NOS
Chromosome:
12; Location: 12q24.2-q24.31
GeneID: 4842
|
84: SOD1 |
superoxide dismutase 1, soluble
(amyotrophic lateral sclerosis 1 (adult)) [Homo sapiens]
Other
Aliases: HGNC:11179,
ALS, ALS1, IPOA, SOD, homodimer
Other
Designations: Cu /Zn superoxide
dismutase; Cu/Zn superoxide
dismutase; SOD, soluble; indophenoloxidase
A; superoxide dismutase (aa 120-154); superoxide dismutase 1, soluble; superoxide dismutase, cystolic
Chromosome:
21; Location: 21q22.11
GeneID: 6647
|
85:
TMEM1 |
transmembrane protein 1 [Homo sapiens]
Other
Aliases: HGNC:11868,
EHOC-1, EHOC1, GT334
Other
Designations: TMEM1 protein; epilepsy holoprosencephaly candidate-1 protein
Chromosome:
21; Location: 21q22.3
GeneID: 7109
|
86: CHRNA3 |
cholinergic
receptor, nicotinic, alpha polypeptide 3 [Homo sapiens]
Other
Aliases: HGNC:1957
Other
Designations: Cholinergic receptor,
neuronal nicotinic, alpha polypeptide-3
Chromosome:
15; Location: 15q24
GeneID: 1136
|
87:
TCN1 |
transcobalamin I (vitamin B12 binding protein, R binder family) [Homo
sapiens]
Other
Aliases: HGNC:11652,
TC1, TCI
Other
Designations: haptocorrin; transcobalamin I
Chromosome:
11; Location: 11q11-q12
GeneID: 6947
|
88:
FABP3 |
fatty acid binding
protein 3, muscle and heart (mammary-derived growth inhibitor) [Homo sapiens]
Other
Aliases: HGNC:3557,
FABP11, H-FABP, MDGI, O-FABP
Other
Designations: Fatty acid-binding protein
3, muscle; fatty acid binding protein 11; fatty acid binding protein 3;
mammary-derived growth inhibitor
Chromosome:
1; Location: 1p33-p32
GeneID: 2170
|
89: MSR1 |
macrophage
scavenger receptor 1 [Homo sapiens]
Other
Aliases: HGNC:7376,
SCARA1, SR-A, phSR1, phSR2
Other
Designations: macrophage acetylated LDL receptor
I and II; macrophage scavenger receptor type III; scavenger receptor class A,
member 1
Chromosome:
8; Location: 8p22
GeneID: 4481
|
90:
APOM |
apolipoprotein M [Homo sapiens]
Other
Aliases: HGNC:13916,
G3a, HSPC336, MGC22400, NG20
Other
Designations: NG20-like protein
Chromosome:
6; Location: 6p21.33
GeneID: 55937
|
91: SORL1 |
sortilin-related receptor, L(DLR class) A repeats-containing [Homo
sapiens]
Other
Aliases: HGNC:11185,
LR11, LRP9, SORLA, SorLA-1, gp250
Other
Designations: mosaic protein LR11; sortilin-related receptor containing LDLR class A repeats
Chromosome:
11; Location: 11q23.2-q24.2
GeneID: 6653
|
92:
PPIA |
peptidylprolyl isomerase A (cyclophilin
A) [Homo sapiens]
Other
Aliases: HGNC:9253,
CYPA, CYPH, MGC12404
Other
Designations: T cell cyclophilin;
cyclophilin A; cyclosporin
A-binding protein; peptidyl-prolyl cis-trans isomerase A; peptidylprolyl isomerase A; rotamase
Chromosome:
7; Location: 7p13-p11.2
GeneID: 5478
|
93:
PPBP |
pro-platelet basic
protein (chemokine (C-X-C motif) ligand
7) [Homo sapiens]
Other
Aliases: HGNC:9240,
B-TG1, Beta-TG, CTAP3, CTAPIII, CXCL7, LA-PF4, LDGF, MDGF, NAP-2, NAP-2-L1,
PBP, SCYB7, TC1, TC2, TGB, TGB1, THBGB, THBGB1
Other
Designations: CXC chemokine
ligand 7; beta-thromboglobulin;
connective tissue-activating peptide III; low-affinity platelet factor IV; neutrophil-activating peptide-2; pro-platelet basic
protein; pro-platelet basic protein (includes platelet basic protein, beta-thromboglobulin, connective tissue-activating peptide III, neutrophil-activating peptide-2); small inducible cytokine
B7; small inducible cytokine subfamily B, member 7; thrombocidin
1; thrombocidin 2; thromboglobulin,
beta-1
Chromosome:
4; Location: 4q12-q13
GeneID: 5473
|
94:
HBD |
hemoglobin, delta [Homo
sapiens]
Other
Aliases: HGNC:4829
Other
Designations: delta globin
Chromosome:
11; Location: 11p15.5
GeneID: 3045
|
95:
HBA1 |
hemoglobin, alpha 1
[Homo sapiens]
Other
Aliases: HGNC:4823,
CD31, HBA2
Other
Designations: alpha 1 globin;
alpha one globin; alpha-1 globin;
alpha-2 globin; alpha-2-globin; hemoglobin alpha 1 globin chain; hemoglobin alpha 2; hemoglobin alpha-1 chain;
hemoglobin alpha-2
Chromosome:
16; Location: 16p13.3
GeneID: 3039
|
96:
DPYD |
dihydropyrimidine dehydrogenase [Homo sapiens]
Other
Aliases: HGNC:3012,
DHP, DPD
Chromosome:
1; Location: 1p22
GeneID: 1806
|
97:
PRDM10 |
PR domain
containing 10 [Homo sapiens]
Other
Aliases: HGNC:13995,
KIAA1231, PFM7
Other
Designations: PR-domain family member 7;
PRDM zinc finger transcription factor; tristanin
Chromosome:
11; Location: 11q25
GeneID: 56980
|
98:
KIF20A |
kinesin family member 20A [Homo sapiens]
Other
Aliases: HGNC:9787,
RAB6KIFL
Other
Designations: RAB6 interacting, kinesin-like (rabkinesin6)
Chromosome:
5; Location: 5q31
GeneID: 10112
|
99: GRIN2A |
glutamate receptor,
ionotropic, N-methyl D-aspartate
2A [Homo sapiens]
Other
Aliases: HGNC:4585,
NMDAR2A, NR2A
Other Designations:
N-methyl-D-aspartate
receptor subunit 2A; NMDA receptor subtype 2A gene
Chromosome:
16; Location: 16p13.2
GeneID: 2903
|
100: GRIN1 |
glutamate receptor,
ionotropic, N-methyl D-aspartate
1 [Homo sapiens]
Other
Aliases: HGNC:4584,
NMDA1, NMDAR1, NR1
Other
Designations: N-methyl-D-aspartate receptor channel, subunit zeta-1; NMDA receptor
1; glutamate [NMDA] receptor subunit zeta 1
Chromosome:
9; Location: 9q34.3
GeneID: 2902
|
101: GRIA3 |
glutamate receptor,
ionotrophic, AMPA 3 [Homo sapiens]
Other Aliases:
HGNC:4573,
GLUR-K3, GLUR3, GLURC, gluR-C
Other
Designations: dJ1171F9.1 (glutamate
receptor, ionotrophic, AMPA 3); glutamate receptor 3;
glutamate receptor C
Chromosome:
X; Location: Xq25-q26
GeneID: 2892
|
102: GRIA2 |
glutamate receptor,
ionotropic, AMPA 2 [Homo sapiens]
Other
Aliases: HGNC:4572,
GLUR2, GLURB, HBGR2
Other
Designations: AMPA 2; gluR-B
flop
Chromosome:
4; Location: 4q32-q33
GeneID: 2891
|
103: GRIA1 |
glutamate receptor,
ionotropic, AMPA 1 [Homo sapiens]
Other
Aliases: HGNC:4571,
GLUH1, GLUR1, GLURA, HBGR1
Other
Designations: AMPA 1
Chromosome:
5; Location: 5q31.1
GeneID: 2890
|
104:
GPX3 |
glutathione peroxidase 3 (plasma) [Homo sapiens]
Other
Aliases: HGNC:4555
Other
Designations: plasma glutathione peroxidase 3
Chromosome:
5; Location: 5q23
GeneID: 2878
|
105:
ATP5A1 |
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha
subunit, isoform 1, cardiac muscle [Homo sapiens]
Other
Aliases: HGNC:823,
ATP5A, ATP5AL2, ATPM, OMR, ORM, hATP1
Other
Designations: ATP synthase
alpha chain, mitochondrial; ATP synthase, H+
transporting, mitochondrial F1 complex, alpha subunit; ATP synthase,
H+ transporting, mitochondrial F1 complex, alpha subunit, isoform
2, non-cardiac muscle-like 2; mitochondrial ATP synthetase,
oligomycin-resistant
Chromosome:
18; Location: 18q12-q21
GeneID: 498
|
106:
AQP2 |
aquaporin 2 (collecting duct) [Homo sapiens]
Other
Aliases: HGNC:634,
AQP-CD, MGC34501, WCH-CD
Other
Designations: aquaporin 2; aquaporin-CD; collecting duct
water channel protein
Chromosome:
12; Location: 12q12-q13
GeneID: 359
|
107:
APOH |
apolipoprotein H (beta-2-glycoprotein I) [Homo sapiens]
Other
Aliases: HGNC:616,
B2G1, BG
Other
Designations: apolipoprotein H; beta-2-glycoprotein I
Chromosome:
17; Location: 17q23-qter
GeneID: 350
|
108:
APOC1 |
apolipoprotein C-I [Homo sapiens]
Other
Aliases: HGNC:607
Chromosome:
19; Location: 19q13.2
GeneID: 341
|
109:
CYCS |
cytochrome c, somatic [Homo sapiens]
Other
Aliases: HGNC:19986,
CYC, HCS
Other
Designations: cytochrome c
Chromosome:
7; Location: 7p15.3
GeneID: 54205
|
110:
ADAMTS8 |
a disintegrin-like and metalloprotease
(reprolysin type) with thrombospondin
type 1 motif, 8 [Homo sapiens]
Other
Aliases: HGNC:224,
ADAM-TS8, METH2
Other
Designations: a disintegrin
and metalloprotease with thrombospondin
motifs-8
Chromosome:
11; Location: 11q25
GeneID: 11095
|
111:
SAA1 |
serum amyloid A1 [Homo sapiens]
Other
Aliases: HGNC:10513,
PIG4, SAA, TP53I4
Other
Designations: tumor protein p53 inducible
protein 4
Chromosome:
11; Location: 11p15.1
GeneID: 6288
|
112:
KPNA2 |
karyopherin alpha 2 (RAG cohort 1, importin
alpha 1) [Homo sapiens]
Other
Aliases: HGNC:6395,
IPOA1, QIP2, RCH1, SRP1alpha
Other
Designations: RAG cohort 1; importin alpha 1; importin alpha
2; importin-alpha-P1; karyopherin alpha 2; pendulin
Chromosome:
17; Location: 17q23.1-q23.3
GeneID: 3838
|
113:
CRABP1 |
cellular retinoic
acid binding protein 1 [Homo sapiens]
Other
Aliases: HGNC:2338,
CRABP, CRABP-I, CRABPI, RBP5
Other
Designations: cellular retinoic
acid-binding protein 1
Chromosome:
15; Location: 15q24
GeneID: 1381
|
114:
RPH3A |
rabphilin 3A homolog (mouse) [Homo sapiens]
Other
Aliases: HGNC:17056,
KIAA0985, rabphilin
Other
Designations: rabphilin 3A homolog
Chromosome:
12; Location: 12q24.13
GeneID: 22895
|
115:
TTR |
transthyretin (prealbumin, amyloidosis
type I) [Homo sapiens]
Other
Aliases: HGNC:12405,
HsT2651, PALB, TBPA
Other
Designations: prealbumin; transthyretin
Chromosome:
18; Location: 18q12.1
GeneID: 7276
|
116:
TTPA |