CASK (Gene)

Organism:

Homo sapiens

Synonyms:CAGH39, CAMGUK, CASK, CMG, ENTREZ:8573, FGS4, HGNC:1497, LIN2, MICPCH, MIM:300172, MRXSNA, NM_001126054, NM_001126055, NM_001367721, NM_003688, NP_001119526, NP_001119527, NP_001354650, NP_003679, TNRC8, XM_005272686, XM_006724566, XM_011543993, XM_011543994, XM_011543995, XM_011543996, XM_011543997, XM_024452473, XP_005272743, XP_006724629, XP_011542295, XP_011542296, XP_011542297, XP_011542298, XP_011542299, XP_024308241, calcium/calmodulin dependent serine protein kinase, hCASK

Omim:OMIM:300172

Id:ENSG00000147044

Hgnc:HGNC:1497

Entrez:8573

Ensembl:ENSG00000147044

Description:calcium/calmodulin dependent serine protein kinase

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, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Analyze

CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CASK's neighborhood in the knowledge graph.

Submit

Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CASK.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CASK.

Submit

GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for CASK.

Submit

Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CASK.

Results found

Linked to

	Label	Description
	T60-Adrenal Consensus Gene Set (Entity type)	A Gene Set from MoTrPAC
	GSE120612 etoposide leukocyte 7 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE118548 trametinib T84 1 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE151412 sorafenib 2 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	Ataxia Phenotype (Entity type)	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...
	GSE120612 7 V 2 ETOPOSIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE228619 cadherin-11 CDH11 knockdown RNA Small Interfering 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS

T60-Adrenal Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

GSE120612 etoposide leukocyte 7 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE118548 trametinib T84 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE151412 sorafenib 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

GSE120612 7 V 2 ETOPOSIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE228619 cadherin-11 CDH11 knockdown RNA Small Interfering 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

DISPLAY PER PAGE

CFDE Workbench

Consortium

Community

Resources

@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.