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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:
  • deafness, autosomal recessive 48,
  • KIP2,
  • BC047381,
  • KIP2,
  • CIB2,
  • kinase interacting protein 2,
  • OTTHUMG00000143731,
  • USH1J,
  • NM_006383,
  • uc002bdb.3,
  • DFNB48,
  • HGNC:24579,
  • Usher syndrome 1J (autosomal recessive),
  • USH1J,
  • 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]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

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]

Homology

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Expression

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

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Gene --> GO terms.

 

Other

0 Pathways

3756 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results