CASK (calcium/calmodulin dependent serine protein kinase)

2006-10-01  

Identity

HGNC
LOCATION
Xp11.4
LOCUSID
ALIAS
CAGH39,CAMGUK,CMG,FGS4,LIN2,MICPCH,MRXSNA,TNRC8,hCASK
FUSION GENES

Other Information

Locus ID:

NCBI: 8573
MIM: 300172
HGNC: 1497
Ensembl: ENSG00000147044

Variants:

dbSNP: 8573
ClinVar: 8573
TCGA: ENSG00000147044
COSMIC: CASK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147044ENST00000378154O14936
ENSG00000147044ENST00000378158A0A2U3TZM1
ENSG00000147044ENST00000378163O14936
ENSG00000147044ENST00000378166A0A2U3TZM4
ENSG00000147044ENST00000378168Q5JS79
ENSG00000147044ENST00000378179Q5JS72
ENSG00000147044ENST00000421587O14936
ENSG00000147044ENST00000442742A0A2U3TZN6
ENSG00000147044ENST00000486402A0A2R8Y6D8
ENSG00000147044ENST00000642361A0A2R8YGH2
ENSG00000147044ENST00000643043A0A2R8Y3B3
ENSG00000147044ENST00000643733A0A2R8Y7X6
ENSG00000147044ENST00000643831A0A2R8YEJ7
ENSG00000147044ENST00000644219A0A2R8YE77
ENSG00000147044ENST00000644347O14936
ENSG00000147044ENST00000644770A0A2R8Y4K4
ENSG00000147044ENST00000645566O14936
ENSG00000147044ENST00000645986A0A2R8YEK3
ENSG00000147044ENST00000646087A0A2R8Y6F8
ENSG00000147044ENST00000646120A0A2R8YFN5
ENSG00000147044ENST00000647118A0A2R8Y472

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
Syndecan interactionsREACTOMER-HSA-3000170
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
197363512009Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.151
184232032008CASK Functions as a Mg2+-independent neurexin kinase.107
191659202008Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.83
200294582010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.40
219542872011Phenotypic spectrum associated with CASK loss-of-function mutations.36
125115552003Interaction of the plasma membrane Ca2+ pump 4b/CI with the Ca2+/calmodulin-dependent membrane-associated kinase CASK.28
218557982011Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.25
198479102009Calcium/calmodulin-dependent serine protein kinase and mental retardation.23
192005222009A missense mutation in CASK causes FG syndrome in an Italian family.22
227092672012CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.21

Citation

Dessen P

CASK (calcium/calmodulin dependent serine protein kinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43194/cask