CEP43 centrosomal protein 43
Gene ID: 11116, updated on 5-Mar-2024Gene type: protein coding
Also known as: FOP; FGFR1OP
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- Go to complete Gene record for CEP43
- Go to Variation Viewer for CEP43 variants
Summary
This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies two new risk loci for Graves' disease. GeneReviews: Not available | |
| Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. GeneReviews: Not available | |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. GeneReviews: Not available | |
| Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. GeneReviews: Not available | |
| Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations. GeneReviews: Not available |
Genomic context
- Location:
- 6q27
- Sequence:
- Chromosome: 6; NC_000006.12 (166999397..167052718)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP43 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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