• Gene id: 8416

Gene Summary

• Gene Symbol: ANXA9   Gene   UCSC   Ensembl
• Aliases: ANX31
• Gene name: annexin A9
• Alternate names: annexin A9, annexin 31, annexin XXXI, annexin-9, pemphaxin,
• Gene location: 1q21.3 (150982285: 150996062)     Exons: 14     NC_000001.11
• Gene summary(Entrez): The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to ag
• OMIM: 603319

SNPs

rs17005650

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

Protein Summary

• Protein general information: O76027  
  • Name: Annexin A9 (Annexin XXXI) (Annexin 31) (Annexin 9) (Pemphaxin)
  • Length: 345  
  • Mass: 38364
  • Tissue specificity: Expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level). {ECO
• Sequence:

  MSVTGGKMAPSLTQEILSHLGLASKTAAWGTLGTLRTFLNFSVDKDAQRLLRAITGQGVDRSAIVDVLTNRSREQ
  RQLISRNFQERTQQDLMKSLQAALSGNLERIVMALLQPTAQFDAQELRTALKASDSAVDVAIEILATRTPPQLQE
  CLAVYKHNFQVEAVDDITSETSGILQDLLLALAKGGRDSYSGIIDYNLAEQDVQALQRAEGPSREETWVPVFTQR
  NPEHLIRVFDQYQRSTGQELEEAVQNRFHGDAQVALLGLASVIKNTPLYFADKLHQALQETEPNYQVLIRILISR
  CETDLLSIRAEFRKKFGKSLYSSLQDAVKGDCQSALLALCRAEDM

• Structural information:
  • Interpro: IPR001464  IPR018502  IPR018252  IPR037104  IPR009116  
  • Prosite: PS00223 PS51897
  • STRING: ENSP00000357943
• Other Databases: GeneCards:  ANXA9  Malacards:  ANXA9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019834	phospholipase A2 inhibitor activity	IBA	molecular function
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005262	calcium channel activity	IBA	molecular function
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0046790	virion binding	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0002020	protease binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0007271	synaptic transmission, cholinergic	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0015464	acetylcholine receptor activity	IDA	molecular function
GO:0005543	phospholipid binding	IDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)