CIB2

GENE INFORMATION

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Gene name

CIB2 (HGNC Symbol)

Synonyms

DFNB48, KIP2, USH1J

Description

Calcium and integrin binding family member 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

15

Cytoband

q25.1

Chromosome location (bp)

78104606 - 78131544

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136425 (version 78.38)

Entrez gene

10518

UniProt

O75838 (UniProt - Evidence at protein level)

neXtProt

NX_O75838

Antibodypedia

CIB2 antibodies
 

PROTEIN VIEW

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CIB2-001
 
CIB2-002
 
CIB2-003
 
CIB2-005
 
CIB2-006
 
CIB2-008
 
CIB2-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CIB2-001 ENSP00000258930
ENST00000258930
O75838
Show all »
Show » Show » 187 21.6 No 0
CIB2-002 ENSP00000442459
ENST00000539011
O75838
Show all »
Show » Show » 144 16.5 No 0
CIB2-003 ENSP00000453377
ENST00000559054
H0YLX3
Show all »
Show » Show » 55 6.4 No 0
CIB2-005 ENSP00000452752
ENST00000560618
H0YKC8
Show all »
Show » Show » 167 19 No 0
CIB2-006 ENSP00000453488
ENST00000557846
O75838
Show all »
Show » Show » 138 15.8 No 0
CIB2-008 ENSP00000453256
ENST00000561190
H0YLL7
Show all »
Show » Show » 126 14.5 No 0
CIB2-009 ENSP00000452980
ENST00000559645
H0YKX8
Show all »
Show » Show » 147 16.7 No 0