CIB2 - calcium and integrin binding family member 2 Gene

Homo sapiens

Also known as KIP2; USH1J; DFNB48

Gene ID: 10518 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02707	CIB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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