Gene
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022491 hsa-miR-124-3p Microarray 18668037
MIRT029272 hsa-miR-26b-5p Microarray 19088304
MIRT037461 hsa-miR-744-5p CLASH 23622248
MIRT037461 hsa-miR-744-5p CLASH 23622248
MIRT500115 hsa-miR-1178-5p PAR-CLIP 24398324
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0003700 Function DNA-binding transcription factor activity IBA 21873635
GO:0003700 Function DNA-binding transcription factor activity IDA 10825161
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus NAS 10825161
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609493 15930 ENSG00000125520
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
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
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