CASK

GENERAL INFORMATION

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Gene name

CASK

Gene description

Calcium/calmodulin-dependent serine protein kinase (MAGUK family)

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA023857 , CAB001949
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p11.4

Chromosome location (bp)

41514934 - 41923463

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147044 (version 78.38)

Entrez gene

8573

UniProt

O14936 (UniProt - Evidence at protein level)

neXtProt

NX_O14936

Antibodypedia

CASK antibodies


PROTEIN BROWSER

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ENST00000378154
 
ENST00000378158
 
ENST00000378163
 
ENST00000378166
 
ENST00000378168
 
ENST00000378179
 
ENST00000421587
 
ENST00000442742
 
 
 
 


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