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Gene : CRIPT Homo sapiens

Name  ? CXXC repeat containing interactor of PDZ3 domain Cytological Location  2p21
Brief Description  CXXC repeat containing interactor of PDZ3 domain
Description  This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
  • synonyms:
  • AA165108,
  • NM_014171,
  • CRIPT,
  • HSPC139,
  • cysteine-rich PDZ-binding protein,
  • HGNC:14312,
  • uc002rve.5,
  • OTTHUMG00000128815,
  • HSPC139,
  • SSMDF
  • identifiers:
  • 9419,
  • ENSG00000119878,
  • CRIPT

Genome feature

Region: gene ? Length: 12962  
Location: 2:46617215-46630176 Cyto location: 2p21


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Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3740 SNPs

5 Cross References

18 Data Sets

5 Homologues

1 Located Features

97 Rna Seq Results