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 c... See more...

Aliases for CASK Gene

Aliases for CASK Gene

  • Calcium/Calmodulin Dependent Serine Protein Kinase 2 3 5
  • Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family) 2 3
  • Peripheral Plasma Membrane Protein CASK 3 4
  • Trinucleotide Repeat Containing 8 2 3
  • Protein Lin-2 Homolog 3 4
  • EC 2.7.11.1 4 52
  • HCASK 3 4
  • LIN2 3 4
  • Calcium/Calmodulin-Dependent Serine Protein Kinase Membrane-Associated Guanylate Kinase 3
  • Calcium/Calmodulin-Dependent Serine Protein Kinase 4
  • Calcium/Calmodulin-Dependent Serin Protein Kinase 3
  • EC 2.7.11 52
  • CAGH39 3
  • CAMGUK 3
  • MICPCH 3
  • MRXSNA 3
  • TNRC8 3
  • FGS4 3
  • CMG 3

External Ids for CASK Gene

Previous HGNC Symbols for CASK Gene

  • TNRC8

Previous GeneCards Identifiers for CASK Gene

  • GC0XM039406
  • GC0XM039627
  • GC0XM040223
  • GC0XM040409
  • GC0XM041134
  • GC0XM041259
  • GC0XM041374
  • GC0XM039105

Summaries for CASK Gene

Entrez Gene Summary for CASK Gene

  • 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]

GeneCards Summary for CASK Gene

CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) is a Protein Coding gene. Diseases associated with CASK include Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia and Fg Syndrome 4. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and MET promotes cell motility. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MPP1.

UniProtKB/Swiss-Prot Summary for CASK Gene

  • Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.

Gene Wiki entry for CASK Gene

Additional gene information for CASK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASK Gene

Genomics for CASK Gene

GeneHancer (GH) Regulatory Elements for CASK Gene

Promoters and enhancers for CASK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ041920 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 502.8 +1.0 986 4.9 ZBTB40 EP300 NRF1 POLR2G ZFX ZIC2 POLR2A ZBTB26 CTBP1 SKI CASK lnc-PPP1R2C-9 GPR34 RNU6-202P RF00026-1159
GH0XJ041822 Enhancer 0.9 Ensembl ENCODE 18.2 +99.7 99654 2.8 EP300 ZIC2 TRIM28 CTBP1 TEAD1 ZNF341 NCOR1 FOXA2 SAP130 CTCF CASK ENSG00000237875 RNU6-202P GPR34 RF00017-8337 piR-59769-644 lnc-PPP1R2C-9
GH0XJ041867 Enhancer 0.8 Ensembl ENCODE 18.7 +53.1 53133 5.8 ZSCAN5C TCF7 FOXA2 CEBPB ZNF316 CREM PRDM6 KDM1A MAFF NFIL3 GPR34 CASK RNU6-202P piR-38051-316 RF00017-8338 lnc-PPP1R2C-9
GH0XJ041889 Enhancer 0.6 Ensembl 13.4 +34.0 34044 1.6 FOS FOXA2 FOSL2 CEBPB JUN JUND FOXA1 EP300 DPF2 STAT3 piR-31937-264 GPR34 RNU6-202P CASK piR-48325-156 lnc-PPP1R2C-9
GH0XJ042093 Enhancer 0.9 Ensembl ENCODE 6.2 -171.7 -171732 4.8 RELA HES1 SRF MEF2B NFE2 FOSL1 FOS EBF1 IKZF1 HDAC2 RNU6-630P CASK lnc-CASK-4 ENSG00000233103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASK on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASK

Top Transcription factor binding sites by QIAGEN in the CASK gene promoter:
  • c-Myc
  • IRF-7A
  • Max
  • NF-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Sp1

Genomic Locations for CASK Gene

Genomic Locations for CASK Gene
chrX:41,514,934-41,923,645
(GRCh38/hg38)
Size:
408,712 bases
Orientation:
Minus strand
chrX:41,374,187-41,782,716
(GRCh37/hg19)
Size:
408,530 bases
Orientation:
Minus strand

Genomic View for CASK Gene

Genes around CASK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CASK Gene

Proteins for CASK Gene

  • Protein details for CASK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14936-CSKP_HUMAN
    Recommended name:
    Peripheral plasma membrane protein CASK
    Protein Accession:
    O14936
    Secondary Accessions:
    • A6NES1
    • B7ZKY0
    • O43215
    • Q17RI4
    • Q59HA0
    • Q5VT16
    • Q5VT17
    • Q5VT18
    • Q5VT19
    • Q66T42
    • Q9BYH6
    • Q9NYB2
    • Q9NYB3

    Protein attributes for CASK Gene

    Size:
    926 amino acids
    Molecular mass:
    105123 Da
    Quaternary structure:
    • CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1 or CASKIN1 (By similarity). Forms a heterotrimeric complex with DLG1 and LIN7B via their L27 domains (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Part of a complex containing CASK, TBR1 and TSPYL2 (By similarity). Interacts with WHRN (By similarity). Interacts (via the PDZ, SH3 and guanylate kinase-like domains) with NRXN1 (via C-terminus) (By similarity). Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1 and isoform 2 of DLG4 (By similarity). Interacts with FCHSD2 (By similarity). Interacts with KIRREL3 (PubMed:19012874). Interacts with TBR1 (By similarity). Interacts with TSPYL2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CASK Gene

    Alternative splice isoforms for CASK Gene

neXtProt entry for CASK Gene

Selected DME Specific Peptides for CASK Gene

O14936:
  • QIISKDDH
  • QQFAVKIVDVAKFT
  • SAKDLVR
  • AYPIPHTTRP
  • DVYELCEVIGKGPFS
  • VTRVRLVQFQKNTDEPMGITLKM
  • TLHVGDEIREING
  • DKYLAKHNA
  • PYGKPVD
  • NSAPVKLGGFG
  • GMLYMVFEFM
  • CIVARIMHGGMIHRQ
  • EALRVTPPP
  • AILDVEPQALK
  • NEYLEYG
  • TFKIVPSYR
  • HEDAMYGTKL
  • RKTLVLLGAHGVGRRHIKNTLI
  • PQWVPVSW
  • FNARRKL
  • AGLIPSPELQEWR
  • QILEALRY
  • AGFVYSEAVA
  • YYFVSHD
  • ICHMLKHPHIVELLETYSS
  • VVFIAAP

Post-translational modifications for CASK Gene

  • Ubiquitination at Lys825
  • Modification sites at PhosphoSitePlus

Protein Products

  • Signalway Proteins for CASK
  • Abcam proteins for CASK

Domains & Families for CASK Gene

Gene Families for CASK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CASK Gene

Blocks:
  • SH3 domain signature
  • Variant SH3
  • PDZ/DHR/GLGF domain
  • L27 domain
  • Guanylate kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASK Gene

GenScript: Design optimal peptide antigens:
  • Calcium/calmodulin-dependent serine protein kinase (MAGUK family) (B7ZKY2_HUMAN)
  • Protein lin-2 homolog (CSKP_HUMAN)
  • Calcium/calmodulin-dependent serine protein kinase (MAGUK family) (Q5JS72_HUMAN)
  • Calcium/calmodulin-dependent serine protein kinase (MAGUK family) (Q5JS79_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14936

UniProtKB/Swiss-Prot:

CSKP_HUMAN :
  • The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.
  • In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
Domain:
  • The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7.
  • The protein kinase domain mediates the interaction with FCHSD2.
Family:
  • In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with CASK: view

Function for CASK Gene

Molecular function for CASK Gene

UniProtKB/Swiss-Prot Function:
Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Differs from archetypal CaMK members in that the kinase domain exhibits a constitutively active conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although it still binds Ca(2+)/CAM.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=563 uM for ATP {ECO:0000269 PubMed:18423203}; Note=Kinetics of autophosphorylation assay were measured, rather than phosphorylation of an exogenous substrate.;
GENATLAS Biochemistry:
membrane associated guanylate kinase,Drosophila CAMGUK homolog,expressed in synaptic membranes of the central nervous system

Enzyme Numbers (IUBMB) for CASK Gene

Gene Ontology (GO) - Molecular Function for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 9660868
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IEA,IPI 9660868
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with CASK: view
genes like me logo Genes that share phenotypes with CASK: view

Human Phenotype Ontology for CASK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASK Gene

MGI Knock Outs for CASK:
  • Cask Cask<tm1.1Sud>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASK

Clone Products

  • Addgene plasmids for CASK

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for CASK Gene

Localization for CASK Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASK Gene

Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASK gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 4
cytoskeleton 4
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 colocalizes_with basement membrane IDA 18664494
GO:0005634 nucleus IEA --
GO:0005652 nuclear lamina IDA 18664494
GO:0005730 nucleolus IDA 18664494
GO:0005737 cytoplasm IDA,IEA 18664494
genes like me logo Genes that share ontologies with CASK: view

Pathways & Interactions for CASK Gene

genes like me logo Genes that share pathways with CASK: view

Pathways by source for CASK Gene

1 Qiagen pathway for CASK Gene
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for CASK Gene

SIGNOR curated interactions for CASK Gene

Other effect:

Gene Ontology (GO) - Biological Process for CASK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001953 negative regulation of cell-matrix adhesion IMP 18664494
GO:0006468 protein phosphorylation IEA --
GO:0007155 cell adhesion TAS 9660868
GO:0007269 neurotransmitter secretion TAS --
GO:0010839 negative regulation of keratinocyte proliferation IMP 18664494
genes like me logo Genes that share ontologies with CASK: view

Drugs & Compounds for CASK Gene

(7) Drugs for CASK Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
Formic acid Experimental, Investigational Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for CASK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CASK: view

Transcripts for CASK Gene

mRNA/cDNA for CASK Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASK

Clone Products

  • Addgene plasmids for CASK

Alternative Splicing Database (ASD) splice patterns (SP) for CASK Gene

No ASD Table

Relevant External Links for CASK Gene

GeneLoc Exon Structure for
CASK

Expression for CASK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CASK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CASK Gene

This gene is overexpressed in Salivary gland (9.5), Fetal Brain (7.4), and Frontal cortex (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASK Gene



Protein tissue co-expression partners for CASK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASK

SOURCE GeneReport for Unigene cluster for CASK Gene:

Hs.495984

mRNA Expression by UniProt/SwissProt for CASK Gene:

O14936-CSKP_HUMAN
Tissue specificity: Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver.

Evidence on tissue expression from TISSUES for CASK Gene

  • Nervous system(4.8)
  • Kidney(4.4)
  • Liver(4.3)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CASK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with CASK: view

No data available for mRNA differential expression in normal tissues for CASK Gene

Orthologs for CASK Gene

This gene was present in the common ancestor of animals.

Orthologs for CASK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CASK 31 30
  • 99.78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CASK 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CASK 31 30
  • 95.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CASK 31 30
  • 95.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cask 17 31 30
  • 95.19 (n)
rat
(Rattus norvegicus)
Mammalia Cask 30
  • 94.72 (n)
chicken
(Gallus gallus)
Aves CASK 31 30
  • 89.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CASK 31
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cask 30
  • 85.1 (n)
Str.3488 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7674 30
zebrafish
(Danio rerio)
Actinopterygii caskb 31
  • 82 (a)
OneToMany
caska 31 30
  • 80.16 (n)
OneToMany
cask 30
fruit fly
(Drosophila melanogaster)
Insecta CASK 31 30
  • 61.4 (n)
OneToOne
Caki 32
  • 58 (a)
CG9326 32
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001683 30
  • 60.24 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-2 31 32 30
  • 56.55 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5598 31
  • 65 (a)
OneToOne
Cin.6914 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6914 30
Species where no ortholog for CASK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CASK Gene

ENSEMBL:
Gene Tree for CASK (if available)
TreeFam:
Gene Tree for CASK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CASK: view image

Paralogs for CASK Gene

Paralogs for CASK Gene

(52) SIMAP similar genes for CASK Gene using alignment to 7 proteins:

  • CSKP_HUMAN
  • B7ZKY2_HUMAN
  • F8W998_HUMAN
  • H9KV37_HUMAN
  • Q5JS72_HUMAN
  • Q5JS74_HUMAN
  • Q5JS79_HUMAN
genes like me logo Genes that share paralogs with CASK: view

Variants for CASK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASK Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
638400 Pathogenic: Mental retardation and microcephaly with pontine and cerebellar hypoplasia 41,660,446(-) C/T NONSENSE
658905 Uncertain Significance: Mental retardation, CASK-related, X-linked 41,520,467(-) G/A MISSENSE_VARIANT
662517 Uncertain Significance: Mental retardation, CASK-related, X-linked 41,520,521(-) T/C MISSENSE_VARIANT
668060 Benign: not provided 41,531,460(-) T/G INTRON_VARIANT
668459 Likely Benign: not provided 41,523,944(-) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CASK Gene

Structural Variations from Database of Genomic Variants (DGV) for CASK Gene

Variant ID Type Subtype PubMed ID
dgv2282e212 CNV loss 25503493
dgv2283e212 CNV loss 25503493
esv1007793 CNV deletion 20482838
esv2740113 CNV deletion 23290073
esv33720 CNV loss 17666407
esv3573895 CNV loss 25503493
esv3573902 CNV loss 25503493
esv3573905 CNV loss 25503493
esv3573906 CNV loss 25503493
esv3576852 CNV gain 25503493
nsv1118389 CNV deletion 24896259
nsv471827 CNV novel sequence insertion 20440878
nsv508763 CNV insertion 20534489
nsv523134 CNV gain 19592680
nsv6875 CNV insertion 18451855

Variation tolerance for CASK Gene

Residual Variation Intolerance Score: 4.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CASK Gene

Human Gene Mutation Database (HGMD)
CASK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASK Gene

Disorders for CASK Gene

MalaCards: The human disease database

(26) MalaCards diseases for CASK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CASK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSKP_HUMAN
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus. {ECO:0000269 PubMed:19165920, ECO:0000269 PubMed:19377476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • FG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269 PubMed:19200522}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CASK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CASK: view

No data available for Genatlas for CASK Gene

Publications for CASK Gene

  1. Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells. (PMID: 9660868) Cohen AR … Wood DF (The Journal of cell biology 1998) 3 4 23 54
  2. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. (PMID: 20029458) Hackett A … Abidi FE (European journal of human genetics : EJHG 2010) 3 23 54
  3. Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization. (PMID: 20006588) Volta M … Roberts RG (Biochemical and biophysical research communications 2010) 3 23 54
  4. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PMID: 19736351) Guilmatre A … Campion D (Archives of general psychiatry 2009) 3 41 54
  5. Calcium/calmodulin-dependent serine protein kinase and mental retardation. (PMID: 19847910) Hsueh YP (Annals of neurology 2009) 3 23 54

Products for CASK Gene

Sources for CASK Gene