SDR42E2 (short chain dehydrogenase/reductase family 42E, member 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100288072
Gene name Short chain dehydrogenase/reductase family 42E, member 2
Gene symbol SDR42E2
Synonyms (NCBI Gene)
-
Chromosome 16
Chromosome location 16p12.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0006694 Process Steroid biosynthetic process 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.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NKP2
Protein name Putative short-chain dehydrogenase/reductase family 42E member 2 (EC 1.1.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01073 3Beta_HSD 37 → 307 3-beta hydroxysteroid dehydrogenase/isomerase family Family
Sequence
Sequence length 422
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★★★★★
★☆☆☆☆
Found in Text Mining only