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Gene : CASK Homo sapiens

Name  ? calcium/calmodulin dependent serine protein kinase Cytological Location  Xp11.4
Brief Description  calcium/calmodulin dependent serine protein kinase
Description  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]
  • synonyms:
  • NM_003688,
  • hCASK,
  • FGS4,
  • LIN2,
  • OTTHUMG00000021378,
  • CASK,
  • MRXSNA,
  • TNRC8,
  • CAMGUK,
  • TNRC8,
  • CMG,
  • CAGH39,
  • trinucleotide repeat containing 8,
  • HGNC:1497,
  • calcium/calmodulin-dependent serine protein kinase (MAGUK family),
  • CAGH39,
  • AF035582,
  • LIN2,
  • uc004dfl.5,
  • FGS4,
  • MICPCH
  • identifiers:
  • 8573,
  • ENSG00000147044,
  • CASK

Genome feature

Region: gene ? Length: 408621  
Location: X:41514934-41923554 reverse strand Cyto location: Xp11.4


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Proteins

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SNPs

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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

309 SN Ps

5 Cross References

19 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results