CASK - calcium/calmodulin dependent serine protein kinase Gene

Homo sapiens

Also known as CMG; FGS4; LIN2; TNRC8; hCASK; CAGH39; CAMGUK; MICPCH; MRXSNA

Gene ID: 8573 | Gene type: protein coding

About CASK

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,514,934-41,923,554 (from NCBI)

This gene has 30 transcripts (splice variants), 201 orthologues, 7 paralogues and is associated with 9 phenotypes. Ubiquitous expression in duodenum (RPKM 8.0), small intestine (RPKM 7.8) and 25 other tissues.

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, 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]

CASK Products(5)

mRNA	Protein	Name
NM_001126054.3	NP_001119526.1	peripheral plasma membrane protein CASK isoform 2
NM_001126055.3	NP_001119527.1	peripheral plasma membrane protein CASK isoform 3
NM_001367721.1	NP_001354650.1	peripheral plasma membrane protein CASK isoform 4
NM_001410745.1	NP_001397674.1	peripheral plasma membrane protein CASK isoform 5
NM_003688.4	NP_003679.2	peripheral plasma membrane protein CASK isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9660868	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	18423203	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	18664494	GOA
involved in negative regulation of cellular response to growth factor stimulus	IMP IMP: Inferred from mutant phenotype	18664494	GOA
involved in negative regulation of keratinocyte proliferation	IDA IDA: Inferred from direct assay	18664494	GOA
involved in negative regulation of keratinocyte proliferation	IMP IMP: Inferred from mutant phenotype	18664494	GOA
involved in negative regulation of wound healing	IMP IMP: Inferred from mutant phenotype	18664494	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with basement membrane	IDA IDA: Inferred from direct assay	18664494	GOA
located in basement membrane	IDA IDA: Inferred from direct assay	18664494	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	18664494	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18664494	GOA
located in nuclear lamina	IDA IDA: Inferred from direct assay	18664494	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	18664494	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	18664494	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CASK Protein Structure

Pkinase

L27

PDZ

SH3_2

Guanylate_kin

0
200
400
600
800
926 a.a.

Protein Preferred Names

Protein Names

peripheral plasma membrane protein CASK

calcium/calmodulin-dependent serin protein kinase

CASK Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CASK	O14936	TIAM1	Homo sapiens	Q13009	BN-PAGE	21763699
Intra	CASK	O14936	TIAM1	Homo sapiens	Q13009	Pull Down	32707033
Intra	CASK	O14936	SDC2	Homo sapiens	P34741	Y2H	9660868
Intra	CASK	O14936	SDC2	Homo sapiens	P34741	Pull Down	9660868
Intra	CASK	O14936	ID1	Homo sapiens	P41134	Anti Bait CoIP	15694377
Intra	CASK	O14936	ID1	Homo sapiens	P41134	Y2H	15694377
Intra	CASK	O14936	RPH3A	Homo sapiens	Q9Y2J0	Anti Tag CoIP	11377421
Intra	CASK	O14936	LIN7A	Homo sapiens	O14910	Pull Down	16688213
Intra	CASK	O14936	LIN7A	Homo sapiens	O14910	Validated Y2H	25416956
Intra	CASK	O14936	LIN7A	Homo sapiens	O14910	Anti Bait CoIP	16688213
Intra	CASK	O14936	LIN7A	Homo sapiens	O14910	Pull Down	32707033
Intra	CASK	O14936	CFTR	Homo sapiens	P13569	Phage Display	39009827
Intra	CASK	O14936	APBA1	Homo sapiens	Q02410	BN-PAGE	21763699
Intra	CASK	O14936	EPS8	Homo sapiens	Q12929	Pull Down	16688213
Intra	CASK	O14936	EPS8	Homo sapiens	Q12929	Anti Bait CoIP	16688213
Intra	CASK	O14936	APC	Homo sapiens	P25054	Pull Down	32707033
Intra	CASK	O14936	APC	Homo sapiens	P25054	Phage Display	39009827
Intra	CASK	O14936	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	25416956
Intra	CASK	O14936	SH2D4A	Homo sapiens	Q9H788	Y2H Array	25416956
Intra	CASK	O14936	SNTB2	Homo sapiens	Q13425	Pull Down	32707033
Intra	CASK	O14936	SNTB2	Homo sapiens	Q13425	Anti Tag CoIP	25852190
Intra	CASK	O14936	CASKIN1	Homo sapiens	Q8WXD9	BN-PAGE	21763699
Cross	CASK	O14936	Nrxn1	Rattus norvegicus	Q63373	Pull Down	18423203

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CASK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74349	CASK Protein, Human (sf9)	O14936-4 (A2-Y898)	≥95%

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia

MICPCH	Micpch Syndrome
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Intellectual Developmental Disorder, X-Linked, Syndromic, Najm Type
Mrxsna	X-Linked Intellectual Disability, Najm Type
Intellectual Disability And Microcephaly With Pontine And Cerebellar Hypoplasia	X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
Mental Retardation, X-Linked, Syndromic, Najm Type	Intellectual Developmental Disorder And Microcephaly With Pontine And Cerebellar Hypoplasia
X-Linked Intellectual Disability - Microcephaly - Pontocerebellar Hypoplasia	Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation, Microcephaly With Pontine, Cerebellar Hypoplasia

Fg Syndrome 4

FGS4	Intellectual Developmental Disorder, With Or Without Nystagmus
X-Linked Intellectual Disability With Or Without Nystagmus	Fg Syndrome, Type 4

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Cask-Related Disorders

Cask-Related Intellectual Disability	X-Linked Intellectual Deficit, Najm Type
Cask-Related Disorder	Cask Related Intellectual Disability

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism	Favism, Susceptibility To
Hemolytic Anemia, G6pd Deficient	Class I Glucose-6-Phosphate Dehydrogenase Deficiency
Class I G6pd Deficiency	Severe Hemolytic Anemia Due To G6pd Deficiency
Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency	NSHA
G6pd Deficient Hemolytic Anemia

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency	Glucose-6-Phosphate Dehydrogenase Deficiency
Deficiency Of Glucose-6-Phosphate Dehydrogenase	Glucose 6 Phosphate Dehydrogenase Deficiency
Deficiency Of G-6pd	G6pdd

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Cerebellar Hypoplasia

Hypertonia

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Lobular Neoplasia

Lobular Carcinoma In Situ	Lobular Carcinoma In Situ Of Breast
Lobular Intraepithelial Neoplasia	Non-Infiltrating Lobular Carcinoma
Noninfiltrating Lobular Carcinoma Unspecified Site	Noninfiltrating Lobular Carcinoma Of Breast
Lobular Carcinoma In Situ Unspecified Site

Developmental And Epileptic Encephalopathy 8

DEE8	Epileptic Encephalopathy, Early Infantile, 8
Eiee8	Hyperekplexia And Epilepsy
Developmental And Epileptic Encephalopathy, 8	Early Infantile Epileptic Encephalopathy 8
Hyperekplexia-Epilepsy Syndrome	Hyperekplexia With Epilepsy
Startle Disease With Epilepsy	Encephalopathy, Epileptic, Early Infantile, Type 8

Pathologic Nystagmus

Nystagmus

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Constipation

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Syndromic Intellectual Disability

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115719	CASK-IN-1	Inhibitor	99.7%	Unkown
HY-RS01938	CASK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CASK	VGNC	VGNC:97372
Rattus norvegicus	CASK	RGD	RGD:62004
Macaca mulatta	CASK	VGNC	VGNC:70541
Mus musculus	CASK	MGD	MGI:1309489
Canis familiaris	CASK	VGNC	VGNC:38729
Bos taurus	CASK	VGNC	VGNC:26776
Others	CASK	NCBI