Gene: CASK (calcium/calmodulin-dependent serine protein kinase (MAGUK family))  Homo sapiens
Symbol: CASK
Name: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Description: 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, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAGH39; calcium/calmodulin-dependent serine protein kinase; calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; CAMGUK; CMG; FGS4; FLJ22219; FLJ31914; hCASK; LIN2; MICPCH; MRXSNA; OTTHUMP00000023157; OTTHUMP00000023159; OTTHUMP00000023160; OTTHUMP00000023161; OTTHUMP00000023162; OTTHUMP00000226872; peripheral plasma membrane protein CASK; protein lin-2 homolog; TNRC8; trinucleotide repeat containing 8
Orthologs: Mus musculus : Cask (calcium/calmodulin-dependent serine protein kinase (MAGUK family))  MGI
Rattus norvegicus : Cask (calcium/calmodulin-dependent serine protein kinase (MAGUK family))
Related Pseudogenes: CASKP1  
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1X41,292,716 - 41,700,821-NCBI
Human Genome Assembly HuRefX39,105,639 - 39,513,256-NCBI
Human Genome Assembly GRCh37X41,374,187 - 41,782,287-NCBI
Human Genome Assembly Build 36X41,264,287 - 41,667,212-NCBI
Human Cytogenetic MapXp11.4 NCBI
Human Genome AssemblyX41,135,596 - 41,538,522 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

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RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
  
More on CASK
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 733678
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2013-02-27
Status: ACTIVE



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