QuickView for TNRC8 (gene)

Gene Symbol:

CASK Homo sapiens

Full name:

calcium/calmodulin dependent serine protein kinase

Synonyms:

CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, hCASK, peripheral plasma membrane protein CASK, calcium/calmodulin-dependent serin protein kinase, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase, protein lin-2 homolog, trinucleotide repeat containing 8

Genomic Location:

Chr X: 41264287-41667212

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 m...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CGTSACG_PAX3_B ,  NFAT_Q4_01 ,  TGGAAA_NFAT_Q4_01 ,  GTATTAT_MIR3693P ,  TGANTCA_AP1_C ,  CEBPA_01 ,  AGTTCTC_MIR146A_MIR146B ,  STAT1_02 ,  TTANTCA_UNKNOWN ,  OCT1_04 ,  AP3_Q6 ,  SYATTGTG_UNKNOWN ,  YTATTTTNR_MEF2_02 ,  GCANCTGNY_MYOD_Q6 ,  HFH1_01 ,  EVI1_04 ,  CEBP_Q2_01 ,  IPF1_Q4 ,  XBP1_01 ,  ARP1_01 ,  WGTTNNNNNAAA_UNKNOWN ,  AP1_Q6 ,  TAGCTTT_MIR9 ,  CTTTGA_LEF1_Q2 ,  GGGAGGRR_MAZ_Q6 ,  MEF2_02 ,  AR_Q6 ,  CEBP_Q2 ,  CEBPB_01 ,  AP1_Q6_01 ,  SOX9_B1 ,  CAGGTA_AREB6_01 ,  GTGACGY_E4F1_Q6 ,  YYCATTCAWW_UNKNOWN ,  CEBP_01 ,  TNCATNTCCYR_UNKNOWN ,  AP1FJ_Q2 ,  ACTACCT_MIR196A_MIR196B ,  GGGCGGR_SP1_Q6 ,  AREB6_01 ,  PITX2_Q2 ,  CEBPB_02 ,  IRF_Q6 ,  CAGCAGG_MIR370 ,  AP1_Q4 ,  PTF1BETA_Q6 ,  HLF_01 ,  CHX10_01 ,  TAATTA_CHX10_01 ,  CHOP_01 ,  PIT1_Q6 ,  GATA1_05 ,  MEF2_03 ,  GTTATAT_MIR410 ,  CTGCAGY_UNKNOWN ,  AP1_Q2 ,  TGACAGNY_MEIS1_01 ,  ICSBP_Q6 ,  CTTTGT_LEF1_Q2 ,  RCGCANGCGY_NRF1_Q6 ,  CAGCTG_AP4_Q5 ,  ACAWYAAAG_UNKNOWN ,  CRX_Q4 ,  MYB_Q3 ,  MEF2_Q6_01

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-146 ,  Predicted Gene Targets for miR-196 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-370 ,  Predicted Gene Targets for miR-410 ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-543

Cytogenetic Map:

Xp11.4

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