Homo sapiens Gene: CIB2 | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-24446.6 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | CIB2 | ||||||||||
Gene Name | calcium and integrin binding family member 2 | ||||||||||
Synonyms | DFNB48; KIP2; USH1J | ||||||||||
Species | Homo sapiens | ||||||||||
Ensembl Gene | ENSG00000136425 | ||||||||||
Encoded Proteins |
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
calcium and integrin binding family member 2
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Protein Structure | |||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
Entrez Gene | |||||||||||
Summary |
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] 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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 15:78104606-78131544 | ||||||||||
Strand | Reverse strand | ||||||||||
Band | q25.1 | ||||||||||
Transcripts | |||||||||||
Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||
SwissProt | |||||||||||
TrEMBL | |||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | |||||||||||
UniGene | Hs.129867 | ||||||||||
RefSeq | NM_001271888 NM_001271889 NM_006383 XM_006720374 | ||||||||||
HUGO | |||||||||||
OMIM | |||||||||||
CCDS | CCDS10296 CCDS61722 CCDS61723 | ||||||||||
HPRD | 05713 | ||||||||||
IMGT | |||||||||||
EMBL | |||||||||||
GenPept | |||||||||||
RNA Seq Atlas | |||||||||||