Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Protein shortage in chiasmata 1 ortholog (EC 3.6.-.-) (Protein ZIP2 homolog) (MZIP2)
Protein function
ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in v
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)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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.
["Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]
0
[]
6
["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to SHOC1 (see Related Genes above), that are NOT already directly curated for SHOC1 itself -- a lead worth checking, not a confirmed association.