Gene Gene information from NCBI Gene database.
Entrez ID 93517
Gene name Short chain dehydrogenase/reductase family 42E, member 1
Gene symbol SDR42E1
Synonyms (NCBI Gene)
HSPC105
Chromosome 16
Chromosome location 16q23.3
miRNA miRNA information provided by mirtarbase database.
112
miRTarBase ID miRNA Experiments Reference
MIRT499662 hsa-miR-548an PAR-CLIP 24398324
MIRT499661 hsa-miR-6768-3p PAR-CLIP 24398324
MIRT499660 hsa-miR-4484 PAR-CLIP 24398324
MIRT499659 hsa-miR-3927-3p PAR-CLIP 24398324
MIRT499657 hsa-miR-6831-5p PAR-CLIP 24398324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0006694 Process Steroid biosynthetic process IEA
GO:0016020 Component Membrane IEA
GO:0016491 Function Oxidoreductase activity IEA
GO:0016616 Function Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
GO:0016616 Function Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616164 29834 ENSG00000184860
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUS8
Protein name Short-chain dehydrogenase/reductase family 42E member 1 (EC 1.1.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01073 3Beta_HSD 12 284 3-beta hydroxysteroid dehydrogenase/isomerase family Family
Sequence
Sequence length 393
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 21829702
★☆☆☆☆
Found in Text Mining only
Down Syndrome Associate 39596121
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 40756515
★☆☆☆☆
Found in Text Mining only
Pregnancy Ectopic Associate 34215268
★☆☆☆☆
Found in Text Mining only
Vitamin D Deficiency Associate 40756515
★☆☆☆☆
Found in Text Mining only