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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CASK
calcium/calmodulin dependent serine protein kinase
Chromosome X Β· Xp11.4
NCBI Gene: 8573Ensembl: ENSG00000147044.23HGNC: HGNC:1497UniProt: A0A2R8YE77
196PubMed Papers
22Diseases
0Drugs
197Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
basement membranenegative regulation of cellular response to growth factor stimulusprotein serine/threonine kinase activitynegative regulation of wound healingX-linked intellectual disability, Najm typesyndromic X-linked intellectual disability Najm typeFG syndrome 4cask-related x-linked intellectual disability
✦AI Summary

CASK is a multidomain scaffolding protein kinase located on the X chromosome X plays critical roles in synaptic development and neural function 1. As a component of the presynaptic cytomatrix at the active zone, CASK organizes synaptic vesicle release machinery through extensive interactions with CAZ proteins 2. The protein functions as a molecular hub binding cell-surface adhesion molecules including neurexins, syndecans, and amyloid precursor protein, linking extracellular signaling to intracellular cytoskeletal organization 1. CASK regulates synaptic plasticity and memory formation by controlling CaMKII autophosphorylation, with studies in Drosophila demonstrating that CASK function in mushroom body neurons is necessary and sufficient for memory consolidation 3. In developing human cortical neurons, CASK is essential for establishing functional synaptic transmission and synchronized network activity, though neuronal morphology develops normally in its absence 4. Pathogenic CASK variants cause X-linked intellectual disability and microcephaly with pontocerebellar hypoplasia, representing a neurodevelopmental spectrum of variable severity 5. A large-scale resequencing screen identified CASK mutations in X-linked mental retardation families 6. Recent studies reveal that CASK-related disorder presents with tone abnormalities, sensorineural hearing loss, epilepsy, sleep difficulties, and cerebral visual impairment, with epilepsy significantly associated with intellectual disability severity 5. The high evolutionary conservation of CASK's coding sequence across species, despite its non-essentiality in invertebrates, underscores its critical importance for mammalian neurodevelopment 7.

Sources cited
1
CASK is a multidomain scaffolding kinase that catalyzes phosphotransfer and plays roles in synaptic transmembrane protein anchoring and ion channel trafficking
PMID: 18423203
2
CASK is a component of the presynaptic cytomatrix assembled at the active zone
PMID: 37615862
3
CASK regulates CaMKII autophosphorylation and is necessary and sufficient for memory formation in Drosophila Ξ±'/Ξ²' neurons
PMID: 25009461
4
CASK knockout in human cortical neurons causes severe defects in synaptic transmission and synchronized network activity without affecting neuronal morphology
PMID: 36262316
5
CASK mutations cause a neurodevelopmental spectrum including intellectual disability, microcephaly, tone abnormalities, hearing loss, epilepsy, sleep difficulties and cerebral visual impairment
PMID: 41039189
6
CASK mutations were identified in families with X-linked mental retardation through systematic resequencing
PMID: 19377476
7
CASK's coding sequence is highly evolutionarily conserved despite being non-essential in invertebrates and essential in mammals
PMID: 23863172
Disease Associationsβ“˜22
X-linked intellectual disability, Najm typeOpen Targets
0.83Strong
syndromic X-linked intellectual disability Najm typeOpen Targets
0.82Strong
FG syndrome 4Open Targets
0.80Strong
cask-related x-linked intellectual disabilityOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.53Moderate
Intellectual disabilityOpen Targets
0.48Moderate
X-linked non-syndromic intellectual disabilityOpen Targets
0.47Moderate
pontocerebellar hypoplasiaOpen Targets
0.46Moderate
developmental disorder of mental healthOpen Targets
0.46Moderate
X-linked syndromic intellectual disabilityOpen Targets
0.45Moderate
Neurodevelopmental disorderOpen Targets
0.44Moderate
anemia, nonspherocytic hemolytic, due to G6PD deficiencyOpen Targets
0.41Moderate
isolated cerebellar hypoplasia/agenesisOpen Targets
0.39Weak
early-infantile DEEOpen Targets
0.37Weak
non-syndromic X-linked intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Global developmental delayOpen Targets
0.35Weak
Smith-Magenis syndromeOpen Targets
0.34Weak
NystagmusOpen Targets
0.34Weak
DystoniaOpen Targets
0.33Weak
FG syndrome 4UniProt
Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaUniProt
Pathogenic Variants197
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Congenital cerebellar hypoplasia|Intellectual disability, CASK-related, X-linked|X-linked intellectual disability-cerebellar hypoplasia syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 27
NM_001367721.1(CASK):c.2647C>T (p.Gln883Ter)Pathogenic
Intellectual disability, CASK-related, X-linked|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2025β†’ Residue 883
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2025β†’ Residue 700
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 639
NM_001367721.1(CASK):c.2317+1G>APathogenic
Syndromic X-linked intellectual disability Najm type|Intellectual disability, CASK-related, X-linked|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability, CASK-related, X-linked|FG syndrome 4|Inborn genetic diseases|CASK-related syndromic intellectual disability
β˜…β˜…β˜†β˜†2025β†’ Residue 28
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Intellectual disability, CASK-related, X-linked|FG syndrome 4
β˜…β˜…β˜†β˜†2025β†’ Residue 613
NM_001367721.1(CASK):c.285_288del (p.Asp95fs)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2025β†’ Residue 95
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 681
NM_001367721.1(CASK):c.1015+1G>APathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2024
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)Pathogenic
not provided|FG syndrome 4|Abnormality of the nervous system|Intellectual disability, CASK-related, X-linked
β˜…β˜…β˜†β˜†2024β†’ Residue 489
NM_001367721.1(CASK):c.1315-1G>APathogenic
Intellectual disability, CASK-related, X-linked|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2024
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 657
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)Pathogenic
Smith-Magenis Syndrome-like|Syndromic X-linked intellectual disability Najm type|CASK-related disorder|not provided|Intellectual disability, CASK-related, X-linked
β˜…β˜…β˜†β˜†2024β†’ Residue 489
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Syndromic X-linked intellectual disability Najm type;FG syndrome 4|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 282
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)Likely pathogenic
FG syndrome 4|Syndromic X-linked intellectual disability Najm type|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 728
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)Pathogenic
Syndromic X-linked intellectual disability Najm type|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 622
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)Pathogenic
not provided|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2022β†’ Residue 537
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)Pathogenic
Intellectual disability, CASK-related, X-linked|not provided|Syndromic X-linked intellectual disability Najm type
β˜…β˜…β˜†β˜†2022β†’ Residue 548
View on ClinVar β†—
Related Genes
PPFIA2Protein interaction100%PPFIA3Protein interaction100%NLGN2Protein interaction100%NLGN1Protein interaction100%NLGN3Protein interaction100%NLGN4YProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
59%
Lung
42%
Heart
39%
Liver
38%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
CASKPPFIA2PPFIA3NLGN2NLGN1NLGN3NLGN4Y
PROTEIN STRUCTURE
Preparing viewer…
PDB1KGD Β· 1.31 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.11Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.11]
RankingsWhere CASK stands among ~20K protein-coding genes
  • #2,158of 20,598
    Most Researched196 Β· top quartile
  • #346of 5,498
    Most Pathogenic Variants197 Β· top 10%
  • #88of 17,882
    Most Constrained (LOEUF)0.11 Β· top 1%
Genes detectedCASK
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
PMID: 24278995
1.00
2
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID: 19377476
Nat Genet Β· 2009
0.90
3
Presynaptic Cytomatrix Proteins.
PMID: 37615862
Adv Neurobiol Β· 2023
0.80
4
Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.
PMID: 39363392
Prenat Diagn Β· 2024
0.76
5
What is circulating factor disease and how is it currently explained?
PMID: 36952039
Pediatr Nephrol Β· 2023
0.72