ANXA7

annexin A7

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 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]

Known Variants33 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7327234810:75,135,891C/G—likely benign
rs18271660210:75,135,915T/C—uncertain significance
rs53201274610:75,135,918T/A—uncertain significance
rs14652128910:75,135,945C/T—likely benign
rs375057510:75,138,691C/Tmissense variant—
rs37622618010:75,138,692G/A—uncertain significance
rs56853572110:75,138,763C/T—uncertain significance
rs132665746410:75,139,654C/T—uncertain significance
rs77813921010:75,139,679G/A—uncertain significance
rs249531841810:75,139,702C/T—uncertain significance
rs77260669610:75,139,703G/C—uncertain significance
rs249531911410:75,139,788C/A—likely pathogenic
rs76556656610:75,139,791T/C—uncertain significance
rs213265205610:75,139,823G/A—uncertain significance
rs13855153810:75,139,867G/A—likely benign
rs137078384310:75,142,982C/T—uncertain significance
rs75807876610:75,143,037C/T—uncertain significance
rs77239060010:75,143,084C/T—uncertain significance
rs77588777210:75,143,085G/A—uncertain significance
rs77735803110:75,143,086T/A—uncertain significance
rs249533503810:75,143,354C/T—uncertain significance
rs75466110310:75,143,410A/C—uncertain significance
rs19969758810:75,148,080C/T—uncertain significance
rs14273547310:75,148,118C/T—uncertain significance
rs77567756010:75,148,172G/A—uncertain significance
rs11308096210:75,152,210A/Gintron variant—
rs36782120910:75,155,848G/A—uncertain significance
rs205559120410:75,157,024C/G—uncertain significance
rs75666527510:75,158,013G/A—uncertain significance
rs249540159810:75,158,065C/T—uncertain significance
rs119714704110:75,158,103T/C—uncertain significance
rs74993434410:75,160,589G/T—uncertain significance
rs89877336010:75,160,593G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.