ANXA9 (annexin A9)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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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.
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MIM HGNC e!Ensembl
603319 547 ENSG00000143412
Protein Protein information from UniProt database.
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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 274 → 339 Annexin Family
PF00191 Annexin 45 → 110 Annexin Family
PF00191 Annexin 117 → 182 Annexin Family
PF00191 Annexin 201 → 264 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 
MSVTGGKMAPSLTQEILSHLGLASKTAAWGTLGTLRTFLNFSVDKDAQRLLRAITGQGVD
RSAIVDVLTNRSREQRQLISRNFQERTQQDLMKSLQAALSGNLERIVMALLQPTAQFDAQ
ELRTALKASDSAVDVAIEILATRTPPQLQECLAVYKHNFQVEAVDDITSETSGILQDLLL
ALAKGGRDSYSGIIDYNLAEQDVQALQRAEGPSREETWVPVFTQRNPEHLIRVFDQYQRS
TGQELEEAVQNRFHGDAQVALLGLASVIKNTPLYFADKLHQALQETEPNYQVLIRILISR
CETDLLSIRAEFRKKFGKSLYSSLQDAVKGDCQSALLALCRAEDM
Sequence length 345
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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.
Show/Hide Unknown Diseases (20)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTISM SPECTRUM DISORDER — GWAS catalog 35215271
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog 36496446
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 32887889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog 32887889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE — GWAS catalog 20383146
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (9)
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
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LMTK2 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. PRKCI 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. SLC22A31 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 4 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Melanoma), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. MSMB 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 3 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog. CBFA2T2 3 shared diseasesCancer, Estrogen-receptor negative breast cancer, Ovarian serous carcinoma 5 shared evidence sourcesGWAS catalog (Basal cell carcinoma), GWAS catalog (Cancer), GWAS catalog (Melanoma), GWAS catalog (Estrogen-receptor negative breast cancer), GWAS catalog (Ovarian serous carcinoma) Related via 3 shared diseases including Cancer, Estrogen-receptor negative breast cancer — evidence mostly GWAS catalog.
Prostatic neoplasms Linked via 2 of 5 related genesLMTK2, MSMB Diabetes mellitus type 2 Linked via 2 of 5 related genesLMTK2, CBFA2T2 Non-melanoma skin carcinoma Linked via 2 of 5 related genesSLC22A31, CBFA2T2 Neurotic disorder Linked via 1 of 5 related genesLMTK2 Bipolar disorder Linked via 1 of 5 related genesPRKCI