CASK - calcium/calmodulin dependent serine protein kinase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8573

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)	≥ 90%, as determined by reducing SDS-PAGE.

CASK Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86799	CASK Antibody (YA6492)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115719	NR162	Inhibitor	99.7%	Unkown
HY-RS01938	CASK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18466	Cask Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24947	Cask Rat Pre-designed siRNA Set A	Pre-designed Set	/	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