KALRN kalirin RhoGEF kinase
Gene ID: 8997, updated on 5-Mar-2024Gene type: protein coding
Also known as: DUO; CHD5; DUET; TRAD; CHDS5; HAPIP; KALNC2; ARHGEF24
- See all available tests in GTR for this gene
- Go to complete Gene record for KALRN
- Go to Variation Viewer for KALRN variants
Summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. GeneReviews: Not available | |
New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 3q21.1-q21.2
- Sequence:
- Chromosome: 3; NC_000003.12 (124033369..124726325)
- Total number of exons:
- 67
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for KALRN variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KALRN database
- 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
- SNP: GeneViewSNPs linked from GeneView
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