|
Gene id |
6513 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SLC2A1 Gene UCSC Ensembl |
|
Aliases |
CSE, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT-1, GLUT1, GLUT1DS, HTLVR, PED, SDCHCN |
|
Gene name |
solute carrier family 2 member 1 |
|
Alternate names |
solute carrier family 2, facilitated glucose transporter member 1, choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity), glucose transporter type 1, erythrocyte/brain, hepG2 glucose transporter, human T-cell leukemia virus (I and II) r, |
|
Gene location |
1p34.2 (42958867: 42925374) Exons: 10 NC_000018.10
|
|
Gene summary(Entrez) |
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and
|
|
OMIM |
138140 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
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|
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| Associated diseases |
References |
| Cancer (bladder) | GAD: 19692168 |
| Cancer (breast) | GAD: 20679470 |
| Cancer (lung) | GAD: 18676680 |
| Cardiomegaly | GAD: 21348951 |
| Atherosclerosis | GAD: 19948975 |
| Hyperparathyroidism | GAD: 20424473 |
| Diabetes | GAD: 19587357 |
| Obesity | GAD: 19533890 |
| Diabetes | GAD: 20730618 |
| Idiopathic generalized epilepsies | GAD: H00808 |
| Primary dystonia | KEGG: H00831 |
| Alzheimer's disease | GAD: 19141999 |
| Chronic renal failure | GAD: 21085059 |
| Spermatogenesis defects | MIK: 24667226 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Calcinosis | GAD: 18311082 |
| GLUT1 deficiency syndrome | KEGG: H00836 |
| Hereditary stomatocytosis | KEGG: H00232 |
| Nephropathy | GAD: 11168944 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 24667226 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24667226 |
Role in sp
ermatogene
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|