Gene Gene information from NCBI Gene database.
Entrez ID 56731
Gene name SLC2A4 regulator
Gene symbol SLC2A4RG
Synonyms (NCBI Gene)
GEFHDBP-1HDBP1Si-1-2Si-1-2-19
Chromosome 20
Chromosome location 20q13.33
Summary 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.
259
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0003700 Function DNA-binding transcription factor activity IDA 10825161
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609493 15930 ENSG00000125520
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atherosclerosis Associate 24819318
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 21172654
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 21172654
★☆☆☆☆
Found in Text Mining only
Drug Related Side Effects and Adverse Reactions Associate 33767353
★☆☆☆☆
Found in Text Mining only
Glioma Associate 27677590
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Associate 31932686, 32518073, 36991503
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasm Metastasis Associate 32657779
★☆☆☆☆
Found in Text Mining only