CASK calcium/calmodulin dependent serine protein kinase

Gene ID: 8573, updated on 10-Oct-2024
Gene type: protein coding
Also known as: CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA

Summary

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Anemia, nonspherocytic hemolytic, due to G6PD deficiency MedGen: C2720289OMIM: 300908GeneReviews: Not available	See labs
FG syndrome 4 MedGen: C1845546OMIM: 300422GeneReviews: CASK Disorders	See labs
Syndromic X-linked intellectual disability Najm type MedGen: C2677903OMIM: 300749GeneReviews: CASK Disorders	See labs

Genomic context

Location:: Xp11.4

Sequence:: Chromosome: X; NC_000023.11 (41514934..41923554, complement)

Total number of exons:: 28

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CASK variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CASK @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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