CASK

GENE INFORMATION

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Gene name

CASK (HGNC Symbol)

Synonyms

CAGH39, FGS4, LIN2, TNRC8

Description

calcium/calmodulin-dependent serine protein kinase (MAGUK family) (HGNC Symbol)

Entrez gene 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, 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]

Chromosome

X (Chromosome progress)

Cytoband

p11.4

Chromosome location (bp)

41374187 - 41782716

Ensembl

ENSG00000147044 (version 73.37)

Entrez gene

8573

UniProt

O14936 (UniProt - Evidence at protein level)

neXtProt

NX_O14936

Antibodypedia

CASK antibodies
 

PROTEIN VIEW

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CASK-001
 
CASK-002
 
CASK-004
 
CASK-005
 
CASK-006
 
CASK-007
 
CASK-012
 
CASK-013
 
CASK-201
 
CASK-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CASK-001 ENSP00000367400
ENST00000378158
O14936
Show all »
Show » Show » 909 103.2 No 1
CASK-002 ENSP00000367421
ENST00000378179
Q5JS72
Show all »
Show » Show » 518 59.4 No 0
CASK-004 ENSP00000400526
ENST00000421587
O14936
Show all »
Show » Show » 897 102.1 No 1
CASK-005 ENSP00000367408
ENST00000378166
O14936
Show all »
Show » Show » 921 104.5 No 1
CASK-006 ENSP00000367396
ENST00000378154
Q5JS74
Show all »
Show » Show » 590 66.6 No 1
CASK-007 ENSP00000367405
ENST00000378163
O14936
Show all »
Show » Show » 926 105.1 No 1
CASK-012 ENSP00000367410
ENST00000378168
Q5JS79
Show all »
Show » Show » 381 43.7 No 0
CASK-013 ENSP00000398007
ENST00000442742
O14936
Show all »
Show » Show » 898 102.2 No 1
CASK-201 ENSP00000322727
ENST00000318588
H9KV37
Show all »
Show » Show » 921 104.6 No 1
CASK-202 ENSP00000354641
ENST00000361962
F8W998
Show all »
Show » Show » 909 103.3 No 1