CEP152 centrosomal protein 152
Gene ID: 22995, updated on 3-Apr-2024Gene type: protein coding
Also known as: MCPH4; MCPH9; SCKL5
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP152
- Go to Variation Viewer for CEP152 variants
Summary
This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of sleep habits and insomnia. GeneReviews: Not available | |
| A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. GeneReviews: Not available | |
| Microcephaly 9, primary, autosomal recessive | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Seckel syndrome 5 | See labs |
Genomic context
- Location:
- 15q21.1
- Sequence:
- Chromosome: 15; NC_000015.10 (48729083..48811069, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP152 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CEP152 database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.