KIF5C kinesin family member 5C
Gene ID: 3800, updated on 28-Oct-2024Gene type: protein coding
Also known as: KINN; NKHC; NKHC2; CDCBM2; NKHC-2
- See all available tests in GTR for this gene
- Go to complete Gene record for KIF5C
- Go to Variation Viewer for KIF5C variants
Summary
The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Complex cortical dysplasia with other brain malformations 2 | See labs |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. GeneReviews: Not available |
Genomic context
- Location:
- 2q23.1-q23.2
- Sequence:
- Chromosome: 2; NC_000002.12 (148875227..149026759)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KIF5C 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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