Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
56731
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
SLC2A4 regulator |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SLC2A4RG |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GEF, HDBP-1, HDBP1, Si-1-2, Si-1-2-19 |
Chromosome
Chromosome number
|
20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q13.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcripti |
UniProt ID |
Q9NR83
|
Protein name |
SLC2A4 regulator (GLUT4 enhancer factor) (GEF) (Huntington disease gene regulatory region-binding protein 1) (HDBP-1) |
Protein function |
Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'. |
PDB |
7DTA
|
Family and domains |
|
Tissue specificity |
TISSUE SPECIFICITY: According to PubMed:14630949, expressed in heart, skeletal muscle, liver, kidney and pancreas; undetectable in lung, placenta or brain. According to PubMed:14625278, ubiquitously expressed, with lowest expression in brain and ileum. {E |
Sequence |
MERPPPRAAGRDPSALRAEAPWLRAEGPGPRAAPVTVPTPPQGSSVGGGFAGLEFARPQE SEPRASDLGAPRTWTGAAAGPRTPSAHIPVPAQRATPGKARLDEVMAAAALTSLSTSPLL LGAPVAAFSPEPGLEPWKEALVRPPGSYSSSSNSGDWGWDLASDQSSPSTPSPPLPPEAA HFLFGEPTLRKRKSPAQVMFQCLWKSCGKVLSTASAMQRHIRLVHLGRQAEPEQSDGEED FYYTELDVGVDTLTDGLSSLTPVSPTASMPPAFPRLELPELLEPPALPSPLRPPAPPLPP PPVLSTVANPQSCHSDRVYQGCLTPARLEPQPTEVGACPPALSSRIGVTLRKPRGDAKKC RKVYGMERRDLWCTACRWKKACQRFLD
|
|
Sequence length |
387 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
24076602 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
|
GWAS, CBGDA |
Asthma |
Asthma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Atherosclerosis |
Associate
|
24819318 |
Breast Neoplasms |
Associate
|
21172654 |
Carcinogenesis |
Associate
|
21172654 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
33767353 |
Glioma |
Associate
|
27677590 |
Multiple Sclerosis |
Associate
|
31932686, 32518073, 36991503 |
Neoplasm Metastasis |
Associate
|
32657779 |
|