Aliases for ANXA7 Gene
External Ids for ANXA7 Gene
Previous HGNC Symbols for ANXA7 Gene
Previous GeneCards Identifiers for ANXA7 Gene
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 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
GeneCards Summary for ANXA7 Gene
ANXA7 (Annexin A7) is a Protein Coding gene. Diseases associated with ANXA7 include Hereditary Spherocytosis and Spinocerebellar Ataxia, Autosomal Recessive 20. Among its related pathways are Cytoskeletal Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include integrin binding. An important paralog of this gene is ANXA11.
UniProtKB/Swiss-Prot Summary for ANXA7 Gene
Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis.