ANXA4 annexin A4
Gene ID: 307, updated on 10-Oct-2024Gene type: protein coding
Also known as: ANX4; P32.5; PIG28; PP4-X; ZAP36; PAP-II; HEL-S-274
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- Go to complete Gene record for ANXA4
- Go to Variation Viewer for ANXA4 variants
Summary
Annexin 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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
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Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available |
Genomic context
- Location:
- 2p13.3
- Sequence:
- Chromosome: 2; NC_000002.12 (69643808..69827112)
- Total number of exons:
- 22
Variation
Resource | Links for this gene |
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ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ANXA4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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