ADAM20 (ADAM metallopeptidase domain 20)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8748
Gene name ADAM metallopeptidase domain 20
Gene symbol ADAM20
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q24.2
Summary This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane TAS
GO:0006508 Process Proteolysis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603712 199 ENSG00000134007
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43506
Protein name Disintegrin and metalloproteinase domain-containing protein 20 (ADAM 20) (EC 3.4.24.-)
Protein function May be involved in sperm maturation and/or fertilization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 24 → 159 Reprolysin family propeptide Family
PF01421 Reprolysin 207 → 399 Reprolysin (M12B) family zinc metalloprotease Domain
PF00200 Disintegrin 416 → 488 Disintegrin Domain
PF08516 ADAM_CR 493 → 606 ADAM cysteine-rich Family
Tissue specificity TISSUE SPECIFICITY: Testis specific.
Sequence
Sequence length 726
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Interaction With Cumulus Cells And The Zona Pellucida
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Pathways 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 (2)
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
MALE INFERTILITY — Disgenet, GenCC
Disgenet, GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 39177846 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Myopia Myopia Pubtator 36036911 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 11807715
★★★★★
★☆☆☆☆
Found in Text Mining only