EQTN (equatorin)

Gene

• Entrez ID: 54586
• Gene name: Equatorin
• Gene symbol: EQTN
• Synonyms (NCBI Gene): AFAF, C9orf11, SPACA8
• Chromosome: 9
• Chromosome location: 9p21.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002079	Component	Inner acrosomal membrane	IBA
GO:0002079	Component	Inner acrosomal membrane	IEA
GO:0002079	Component	Inner acrosomal membrane	ISS
GO:0002080	Component	Acrosomal membrane	IEA
GO:0002081	Component	Outer acrosomal membrane	IBA
GO:0002081	Component	Outer acrosomal membrane	IEA
GO:0002081	Component	Outer acrosomal membrane	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IEA
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	IBA
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	IEA
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0060478	Process	Acrosomal vesicle exocytosis	IBA
GO:0060478	Process	Acrosomal vesicle exocytosis	IEA

Other IDs

• MIM: 617653
• HGNC: 1359
• e!Ensembl: ENSG00000120160

Protein

• UniProt ID: Q9NQ60
• Protein name: Equatorin (Acrosome formation-associated factor)
• Protein function: Acrosomal membrane-anchored protein involved in the process of fertilization and in acrosome biogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15339	Afaf	53 → 250	Acrosome formation-associated factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is highly expressed in testis. Isoform 2 is expressed at low levels in skin and blood. {ECO:0000269|PubMed:11118625}.
• Sequence:

  MNFILFIFIPGVFSLKSSTLKPTIEALPNVLPLNEDVNKQEEKNEDHTPNYAPANEKNGN
  YYKDIKQYVFTTQNPNGTESEISVRATTDLNFALKNDKTVNATTYEKSTIEEETTTSEPS
  HKNIQRSTPNVPAFWTMLAKAINGTAVVMDDKDQLFHPIPESDVNATQGENQPDLEDLKI
  KIMLGISLMTLLLFVVLLAFCSATLYKLRHLSYKSCESQYSVNPELATMSYFHPSEGVSD
  TSFSKSAESSTFLGTTSSDMRRSGTRTSESKIMTDIISIGSDNEMHENDESVTR

• Sequence length: 294

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Squamous Cell	Associate	36456645	★☆☆☆☆ Found in Text Mining only