Gene Gene information from NCBI Gene database.
Entrez ID 8416
Gene name Annexin A9
Gene symbol ANXA9
Synonyms (NCBI Gene)
ANX31
Chromosome 1
Chromosome location 1q21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT756264 hsa-miR-186-5p Luciferase reporter assayWestern blottingqRT-PCR 37841425
MIRT786705 hsa-miR-216a CLIP-seq
MIRT786706 hsa-miR-3157-5p CLIP-seq
MIRT786707 hsa-miR-4330 CLIP-seq
MIRT786708 hsa-miR-4691-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA
GO:0001786 Function Phosphatidylserine binding IDA 12832069
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 22841549, 33961781
GO:0005543 Function Phospholipid binding IDA 10899159
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603319 547 ENSG00000143412
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76027
Protein name Annexin A9 (Annexin XXXI) (Annexin-31) (Annexin-9) (Pemphaxin)
Protein function Low affinity receptor for acetylcholine known to be targeted by disease-causing pemphigus vulgaris antibodies in keratinocytes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00191 Annexin 45 110 Annexin Family
PF00191 Annexin 117 182 Annexin Family
PF00191 Annexin 201 264 Annexin Family
PF00191 Annexin 274 339 Annexin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the stratified squamous skin epithelium, but not in epithelia of other types (at protein level). {ECO:0000269|PubMed:10899159}.
Sequence
Sequence length 345
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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 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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37464398 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29393380
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37349657 Stimulate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic Metastasis BEFREE 29393380
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 21926416
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Melanoma Pubtator 21926416 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 30744186
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 31474227, 33680718 Associate
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma Carcinoma BEFREE 30744186
★☆☆☆☆
Found in Text Mining only