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Gene : CIB2 Homo sapiens

Name  ? calcium and integrin binding family member 2 Cytological Location  15q25.1
Brief Description  calcium and integrin binding family member 2
Description  The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
  • synonyms:
  • BC047381,
  • kinase interacting protein 2,
  • deafness, autosomal recessive 48,
  • Usher syndrome 1J (autosomal recessive),
  • KIP2,
  • NM_006383,
  • HGNC:24579,
  • CIB2,
  • uc002bdb.3,
  • USH1J,
  • OTTHUMG00000143731,
  • KIP2,
  • USH1J,
  • DFNB48,
  • DFNB48
  • identifiers:
  • 10518,
  • ENSG00000136425,
  • CIB2

Genome feature

Region: gene ? Length: 27371  
Location: 15:78104606-78131976 reverse strand Cyto location: 15q25.1

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Proteins.


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2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

3740 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results