CPNE4 copine 4
Gene ID: 131034, updated on 28-Oct-2024Gene type: protein coding
Also known as: CPN4; COPN4
- See all available tests in GTR for this gene
- Go to complete Gene record for CPNE4
- Go to Variation Viewer for CPNE4 variants
Summary
This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GeneReviews: Not available | |
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available |
Genomic context
- Location:
- 3q22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (131533569..132039606, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CPNE4 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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