CLIP2 CAP-Gly domain containing linker protein 2
Gene ID: 7461, updated on 28-Oct-2024Gene type: protein coding
Also known as: CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115
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- Go to complete Gene record for CLIP2
- Go to Variation Viewer for CLIP2 variants
Summary
The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 7q11.23
- Sequence:
- Chromosome: 7; NC_000007.14 (74289407..74405935)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CLIP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CLIP2 database
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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