IZUMO3 (IZUMO family member 3)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100129669
Gene name IZUMO family member 3
Gene symbol IZUMO3
Synonyms (NCBI Gene)
C9orf134bA20A20.1
Chromosome 9
Chromosome location 9p21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0001675 Process Acrosome assembly IEA
GO:0001675 Process Acrosome assembly ISS
GO:0002079 Component Inner acrosomal membrane IEA
GO:0002079 Component Inner acrosomal membrane ISS
GO:0005886 Component Plasma membrane 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
618896 31421 ENSG00000205442
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.
Q5VZ72
Protein name Izumo sperm-egg fusion protein 3
Protein function Plays an important role in the biogenesis of the acrosome during sperm development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15005 IZUMO 20 → 162 Izumo sperm-egg fusion, Ig domain-associated Family
Sequence 
MGDLWLFLLLPLSAFHGVKGCLECDPKFIEDVGSLLGNLIPSEVPGRTQLLERQIKEMIH
LSFKVSHSDKRLRVLAVQQVVKLRTWLKNEFYKLGNETWKGVFIYQGKLLDVCQNLESKL
KELLKNFSEIACSEDCIVVEGPILDCWTCLRMTNRCFKGEYCGDEDPRKAENREIALFLI
LLATAVILGSAVLLFHFCIFHRRKMKAIRRSLKEYVEKKLEELMGKIDEKEEKDFRLRK
Sequence length 239
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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 (11)
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUDITORY SYSTEM DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations