GENETIC ENCYCLOPEDIA
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gene: ANXA2

id302
symbolANXA2
organismHomo sapiens
full nameannexin A2
summaryThis gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]
variant-disease

GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1 AND See cases

GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1 AND See cases

GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1 AND See cases

GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1 AND See cases

GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 AND not provided

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