Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8573
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium/calmodulin dependent serine protein kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASK
Synonyms (NCBI Gene) Gene synonyms aliases
CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, hCASK
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.4
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs5964007 A>G Conflicting-interpretations-of-pathogenicity Intron variant
rs76106850 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs137852815 G>A Pathogenic Coding sequence variant, stop gained
rs137852816 C>A Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs137852817 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031989 hsa-miR-16-5p Proteomics 18668040
MIRT054155 hsa-miR-203a-3p Luciferase reporter assay, qRT-PCR, Western blot 25373785
MIRT054155 hsa-miR-203a-3p Luciferase reporter assay, qRT-PCR, Western blot 25373785
MIRT508645 hsa-miR-3908 HITS-CLIP 22927820
MIRT508644 hsa-miR-15a-5p HITS-CLIP 22927820
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001953 Process Negative regulation of cell-matrix adhesion IMP 18664494
GO:0004385 Function GMP kinase activity IEA
GO:0004385 Function GMP kinase activity TAS 9660868
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300172 1497 ENSG00000147044
Protein
UniProt ID O14936
Protein name Peripheral plasma membrane protein CASK (hCASK) (EC 2.7.11.1) (Calcium/calmodulin-dependent serine protein kinase) (Protein lin-2 homolog)
Protein function Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contribu
PDB 1KGD , 1KWA , 1ZL8 , 3C0G , 3C0H , 3C0I , 3MFR , 3MFS , 3MFT , 3MFU , 3TAC , 6KMH , 7OAI , 7OAJ , 7OAK , 7OAL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 12 276 Protein kinase domain Domain
PF02828 L27 347 400 L27 domain Domain
PF02828 L27 406 457 L27 domain Domain
PF00595 PDZ 490 568 PDZ domain Domain
PF00018 SH3_1 618 674 SH3 domain Domain
PF00625 Guanylate_kin 738 912 Guanylate kinase Domain
Tissue specificity 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. {ECO:0000269|PubMed:11003712}.
Sequence
MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWL
KERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRN
PPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEAL
RVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIV
PSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK
LENSKNGTAGLIPS
PELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVF
DQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKK
DEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQ
ALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
ETIRHLEEAVEL
VCTAPQWVPVSWVY
Sequence length 926
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Dopamine Neurotransmitter Release Cycle
Neurexins and neuroligins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
FG Syndrome FG syndrome 4 rs1569429756, rs1602292076, rs398122844, rs587783370, rs398122845, rs779508996, rs137852816, rs137852818, rs137852819 N/A
Mental retardation intellectual disability rs137852815 N/A
Mental Retardation, X-Linked Syndromic X-linked intellectual disability Najm type, Intellectual disability, CASK-related, X-linked rs587783368, rs863224854, rs1555980033, rs1569306724, rs587783370, rs1114167352, rs1602292076, rs886128077, rs398122844, rs1602550687, rs1555975458, rs387906704, rs1569288603, rs1602253509, rs387906705
View all (33 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy N/A N/A GenCC
seizure Seizure N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 22452838
Alcohol Related Disorders Associate 32929080
Atrophy Associate 32696595
Autism Spectrum Disorder Associate 24505460, 32929080
Autistic Disorder Associate 20574149, 35281599
Autosomal Recessive Primary Microcephaly Associate 35281599
Body Dysmorphic Disorders Associate 22452838, 32696595
Bone Diseases Metabolic Associate 32696595
Brain Diseases Associate 20574149, 25886057, 32696595, 35550617
Brain Stem Neoplasms Associate 20595373