CIB2 - calcium and integrin binding family member 2 Gene

Also Known as KIP2; USH1J; DFNB48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10518

About CIB2

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:78,104,606-78,131,535 (from NCBI)

This gene has 10 transcripts (splice variants), 255 orthologues, 8 paralogues and is associated with 7 phenotypes. Broad expression in small intestine (RPKM 6.5), testis (RPKM 5.9) and 23 other tissues.

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]

CIB2 Products (4)

mRNA	Protein	Name
NM_001271888.2	NP_001258817.1	calcium and integrin-binding family member 2 isoform 2
NM_001271889.2	NP_001258818.1	calcium and integrin-binding family member 2 isoform 3
NM_001301224.2	NP_001288153.1	calcium and integrin-binding family member 2 isoform 4
NM_006383.4	NP_006374.1	calcium and integrin-binding family member 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	22779914	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	22779914	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22779914	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	23023331	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to ATP	IDA IDA: Inferred from direct assay	23023331	GOA
involved in positive regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	23023331	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cuticular plate	IDA IDA: Inferred from direct assay	26426422	GOA
located in stereocilium	IDA IDA: Inferred from direct assay	26173970	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CIB2 Protein Structure

EF-hand_7

0
100
187 a.a.

Protein Preferred Names	Protein Names
calcium and integrin-binding family member 2	DNA-dependent protein kinase catalytic subunit-interacting protein 2

Recombinant CIB2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75675	CIB2 Protein, Human (His)	O75838-1 (M1-I187)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Usher Syndrome, Type Ij	Usher Syndrome Type 1j USH1J Usher Syndrome Type Ij Usher Syndrome 1j Usher'S Syndrome Type 1j
Deafness, Autosomal Recessive 48	DFNB48 Autosomal Recessive Nonsyndromic Deafness 48 Autosomal Recessive Deafness 48 Deafness, Autosomal Recessive, 48 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 48 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 48 Deafness, Autosomal Recessive, Type 48
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Rare Genetic Deafness	Rare Genetic Hearing Loss
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive 57	DFNB57 Autosomal Recessive Nonsyndromic Deafness 57 Autosomal Recessive Deafness 57 Deafness, Autosomal Recessive, 57 Deafness, Autosomal Recessive, Type 57
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Deafness, Autosomal Recessive 67	DFNB67 Autosomal Recessive Nonsyndromic Deafness 67 Autosomal Recessive Deafness 67 Deafness, Autosomal Recessive, 67 Deafness, Autosomal Recessive, Type 67
Sciatic Neuropathy
Deafness, Autosomal Recessive 31	DFNB31 Whirler, Mouse, Homolog Of Autosomal Recessive Nonsyndromic Deafness 31 Autosomal Recessive Deafness 31 Deafness, Autosomal Recessive, 31 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 Deafness, Autosomal Recessive, Type 31
Lesion Of Sciatic Nerve	Nerve Lesion Sciatic Sciatic Neuropathy
Mononeuritis Of Lower Limb
Deafness, Autosomal Dominant 48	DFNA48 Autosomal Dominant Nonsyndromic Deafness 48 Autosomal Dominant Deafness 48 Deafness, Autosomal Dominant, 48 Deafness Autosomal Dominant Due To Mutation In Myo1a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 Deafness, Autosomal Dominant, Type 48
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02707	CIB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19884	Cib2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26384	Cib2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CIB2	VGNC	VGNC:108005
Mus musculus	CIB2	MGD	MGI:1929293
Canis familiaris	CIB2	VGNC	VGNC:39267
Bos taurus	CIB2	VGNC	VGNC:27360
Rattus norvegicus	CIB2	RGD	RGD:1308718
Others	CIB2	NCBI