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