SDR16C5 (short chain dehydrogenase/reductase family 16C member 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 195814 |
| Gene name | Short chain dehydrogenase/reductase family 16C member 5 |
| Gene symbol | SDR16C5 |
| Synonyms (NCBI Gene) |
EPHD-2RDH#2RDH-E2RDHE2retSDR2
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| Chromosome | 8 |
| Chromosome location | 8q12.1 |
| Summary | This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contai |
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miRNA
miRNA information provided by mirtarbase database.
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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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Q8N3Y7 | ||||||||||
| Protein name | Epidermal retinol dehydrogenase 2 (EPHD-2) (RDH-E2) (EC 1.1.1.105) (Retinal short-chain dehydrogenase reductase 2) (retSDR2) (Short-chain dehydrogenase/reductase family 16C member 5) | ||||||||||
| Protein function | Oxidoreductase with strong preference for NAD (PubMed:18926804). Active in both the oxidative and reductive directions (PubMed:18926804). Oxidizes all-trans-retinol in all-trans-retinaldehyde (PubMed:18926804). No activity was detected with 11-c | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in adult lung. Detected at low levels in adult brain, heart, testis, placenta, cervix, pancreas, uterus, stomach, rectum, small intestine, colon, esophagus, thymus, skin, and skin keratinocyte. Expression is higher in psoriasi | ||||||||||
| Sequence |
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| Sequence length | 309 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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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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