Gene Gene information from NCBI Gene database.
Entrez ID 56948
Gene name Short chain dehydrogenase/reductase family 39U member 1
Gene symbol SDR39U1
Synonyms (NCBI Gene)
C14orf124HCDI
Chromosome 14
Chromosome location 14q12
Summary This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript v
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT024076 hsa-miR-1-3p Proteomics 18668040
MIRT443026 hsa-miR-3174 PAR-CLIP 22100165
MIRT443025 hsa-miR-4524a-3p PAR-CLIP 22100165
MIRT443024 hsa-miR-3606-5p PAR-CLIP 22100165
MIRT443023 hsa-miR-921 PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion HTP 34800366
GO:0016491 Function Oxidoreductase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616162 20275 ENSG00000100445
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRG7
Protein name Epimerase family protein SDR39U1 (EC 1.1.1.-) (Short-chain dehydrogenase/reductase family 39U member 1)
Protein function Putative NADP-dependent oxidoreductase.
PDB 4B4O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01370 Epimerase 3 216 NAD dependent epimerase/dehydratase family Family
PF08338 DUF1731 244 291 Domain of unknown function (DUF1731) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adrenal gland.
Sequence
Sequence length 293
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
SMOOTH SURFACE DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations