CCDC141 coiled-coil domain containing 141
Gene ID: 285025, updated on 18-Sep-2024Gene type: protein coding
Also known as: CAMDI
- See all available tests in GTR for this gene
- Go to complete Gene record for CCDC141
- Go to Variation Viewer for CCDC141 variants
Summary
Predicted to be involved in axon guidance and cell adhesion. Predicted to act upstream of or within centrosome localization and cerebral cortex radially oriented cell migration. Predicted to be located in centrosome; cytoplasm; and plasma membrane. Predicted to be active in neuron projection. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available | |
| Hypogonadotropic hypogonadism 7 with or without anosmia | See labs |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available |
Genomic context
- Location:
- 2q31.2
- Sequence:
- Chromosome: 2; NC_000002.12 (178814978..179050137, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCDC141 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
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