Gene Gene information from NCBI Gene database.
Entrez ID 310
Gene name Annexin A7
Gene symbol ANXA7
Synonyms (NCBI Gene)
ANX7SNXSYNEXIN
Chromosome 10
Chromosome location 10q22.2
Summary Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT023283 hsa-miR-122-5p Proteomics 21750653
MIRT048217 hsa-miR-196a-5p CLASH 23622248
MIRT043161 hsa-miR-324-5p CLASH 23622248
MIRT439134 hsa-miR-10b-5p 3'LIFE 25074381
MIRT439134 hsa-miR-10b-5p 3'LIFE 25074381
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA
GO:0003723 Function RNA binding HDA 22681889
GO:0005178 Function Integrin binding IPI 24007983
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 9268363, 12445460, 17699613
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186360 545 ENSG00000138279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20073
Protein name Annexin A7 (Annexin VII) (Annexin-7) (Synexin)
Protein function Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.
PDB 8W5S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00191 Annexin 189 254 Annexin Family
PF00191 Annexin 261 326 Annexin Family
PF00191 Annexin 344 410 Annexin Family
PF00191 Annexin 420 485 Annexin Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in brain, heart and skeletal muscle. Isoform 2 is more abundant in liver, lung, kidney, spleen, fibroblasts and placenta. {ECO:0000269|PubMed:1825209}.
Sequence
MSYPGYPPTGYPPFPGYPPAGQESSFPPSGQYPYPSGFPPMGGGAYPQVPSSGYPGAGGY
PAPGGYPAPGGYPGAPQPGGAPSYPGVPPGQGFGVPPGGAGFSGYPQPPSQSYGGGPAQV
PLPGGFPGGQMPSQYPGGQPTYPSQINTDSFSSYPVFSPVSLDYSSEPATVTQVTQGTIR
PAANFDAIRDAEILRKAMKGFGTDEQAIVDVVANRSNDQRQKIKAAFKTSYGKDLIKDLK
SELSGNMEELILAL
FMPPTYYDAWSLRKAMQGAGTQERVLIEILCTRTNQEIREIVRCYQ
SEFGRDLEKDIRSDTSGHFERLLVSM
CQGNRDENQSINHQMAQEDAQRLYQAGEGRLGTD
ESCFNMILATRSFPQLRATMEAYSRMANRDLLSSVSREFSGYVESGLKTI
LQCALNRPAF
FAERLYYAMKGAGTDDSTLVRIVVTRSEIDLVQIKQMFAQMYQKTLGTMIAGDTSGDYRR
LLLAI
VGQ
Sequence length 488
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Amyotrophic lateral sclerosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
LIVER NEOPLASMS CTD
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 18449914, 31217851
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 30694461
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11673658
★☆☆☆☆
Found in Text Mining only
Bicuspid Aortic Valve Disease Bicuspid aortic valve Pubtator 36071494 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11673658, 23639634, 29893423
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31040365 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19602687, 36346805, 37240163 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36346805 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 30877150
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism Pubtator 11287641 Associate
★☆☆☆☆
Found in Text Mining only