SLC2A4RG (SLC2A4 regulator)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 56731 |
| Gene name | SLC2A4 regulator |
| Gene symbol | SLC2A4RG |
| Synonyms (NCBI Gene) |
GEFHDBP-1HDBP1Si-1-2Si-1-2-19
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
259
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
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| Sequence length | 387 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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