2. Gene
  3. CIB2 - calcium and integrin binding family member 2 Gene

CIB2 - calcium and integrin binding family member 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙和整合素结合家族成员 2

种属: Homo sapiens

同用名: KIP2; USH1J; DFNB48

基因 ID: 10518 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质类似于 KIP/CIB、钙调神经磷酸酶 B 和钙调蛋白。编码的蛋白质是一种钙结合调节蛋白，与 DNA 依赖性蛋白激酶催化亚基 (DNA-PKcs) 相互作用，并参与光感受器细胞的维护。该基因的突变会导致耳聋、常染色体隐性遗传 48 (DFNB48) 以及 Usher 综合征 1J (USH1J) 。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
22779914 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
22779914 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22779914 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23023331 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to ATP IDA
IDA: 通过直接分析推断
23023331 GOA
involved in positive regulation of cytosolic calcium ion concentration IDA
IDA: 通过直接分析推断
23023331 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cuticular plate IDA
IDA: 通过直接分析推断
26426422 GOA
located in stereocilium IDA
IDA: 通过直接分析推断
26173970 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CIB2 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (111 - 173)

  • 0
  • 100
  • 187 a.a.
蛋白主名 其他名称

calcium and integrin-binding family member 2

DNA-dependent protein kinase catalytic subunit-interacting protein 2

重组 CIB2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75675 CIB2 Protein, Human (His) O75838-1 (M1-I187) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02707 CIB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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