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Gene: CASK (calcium/calmodulin dependent serine protein kinase) Homo sapiens
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Symbol: CASK
Name: calcium/calmodulin dependent serine protein kinase
Description: Predicted to have guanylate kinase activity. Involved in several processes, including negative regulation of cell-matrix adhesion; negative regulation of keratinocyte proliferation; and negative regulation of wound healing. Localizes to several cellular components, including the basement membrane; nuclear periphery; and nucleolus. Implicated in FG syndrome and syndromic X-linked intellectual disability Najm type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAGH39; calcium/calmodulin-dependent serin protein kinase; calcium/calmodulin-dependent serine protein kinase; calcium/calmodulin-dependent serine protein kinase (MAGUK family); calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; CAMGUK; CMG; FGS4; FLJ22219; FLJ31914; hCASK; LIN2; MICPCH; MRXSNA; peripheral plasma membrane protein CASK; protein lin-2 homolog; TNRC8; trinucleotide repeat containing 8
Orthologs:
Related Pseudogenes: CASKP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX41,514,934 - 41,923,645 (-)Ensembl
GRCh38X41,514,934 - 41,923,554 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,374,187 - 41,782,415 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,264,287 - 41,667,212 (-)NCBINCBI36hg18NCBI36
Build 34X41,135,596 - 41,538,522NCBI
CeleraX45,516,432 - 45,924,508 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX39,105,639 - 39,513,256 (-)NCBIHuRef
CHM1_1X41,406,782 - 41,814,790 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CASK
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 733678
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-02-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.