GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: ANXA4

id307
symbolANXA4
organismHomo sapiens
full nameannexin A4
summaryAnnexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
variant-disease

GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3 AND Ductal breast carcinoma

GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 AND See cases

GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 AND See cases

Single allele AND not provided

GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 AND See cases

... 6 more


Partner site snapshot web on site-shot.com.