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  2. CLRN2 - clarin 2 Gene

CLRN2 - clarin 2 Gene

中文名称:娇韵诗 2

种属: Homo sapiens

同用名: DFNB117

基因 ID: 645104 | 基因类型: protein coding

关于 CLRN2

Cytogenetic location: 4p15.32 Genomic coordinates (GRCh38): 4:17,515,165-17,527,104 (from NCBI)

This gene has 1 transcript (splice variant), 195 orthologues, 2 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

该基因属于 clarin 基因家族。 clarins 似乎属于具有四个跨膜结构域的小型完整膜糖蛋白的大超家族。该基因的确切功能尚不清楚。[RefSeq 提供,2008 年 10 月]

This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]

CLRN2 基因产物(1)

mRNA Protein Name
NM_001079827.2 NP_001073296.1 clarin-2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
33496845 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

CLRN2 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (14 - 192)

  • 0
  • 100
  • 200
  • 232 a.a.
蛋白主名 其他名称

clarin-2

CLRN2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
种属内
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
种属内
CLRN2 A0PK11 NEMP1 Homo sapiens O14524-2 32296183
种属内
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
种属内
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
种属内
CLRN2 A0PK11 LRRC25 Homo sapiens Q8N386 32296183
种属内
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
种属内
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
种属内
CLRN2 A0PK11 CLEC2D Homo sapiens Q9UHP7-3 32296183
种属内
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
种属内
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
种属内
CLRN2 A0PK11 STOM Homo sapiens P27105 32296183
种属内
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
CLRN2 A0PK11 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
CLRN2 A0PK11 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
种属内
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
种属内
CLRN2 A0PK11 CLDN5 Homo sapiens O00501 32296183
种属内
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
种属内
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
种属内
CLRN2 A0PK11 TEX29 Homo sapiens Q8N6K0 32296183
种属内
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
种属内
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
种属内
CLRN2 A0PK11 ARL6IP6 Homo sapiens Q8N6S5 32296183
种属内
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
种属内
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
种属内
CLRN2 A0PK11 SIT1 Homo sapiens Q9Y3P8 32296183
种属内
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
种属内
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
种属内
CLRN2 A0PK11 VSIR Homo sapiens Q9H7M9 32296183
种属内
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
种属内
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
种属内
CLRN2 A0PK11 KLRC1 Homo sapiens P26715 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 117

DFNB117

Deafness, Autosomal Recessive, 117

Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

Acute Hemorrhagic Leukoencephalitis

Ahl

Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

Leukoencephalitis, Acute Hemorrhagic

Acute Hemorrhagic Encephalomyelitis

Acute Necrotizing Hemorrhagic Leukoencephalitis

Weston-Hurst Syndrome

Ahle

Acute Haemorrhagic Leucoencephalitis

Hurst Disease

Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

Postimmunization Or Postvaccinal Leukoencephalopathy

Deafness, Autosomal Recessive 111

DFNB111

Autosomal Recessive Nonsyndromic Deafness 111

Autosomal Recessive Deafness 111

Deafness, Autosomal Recessive, 111

Deafness, Autosomal Recessive 61

DFNB61

Autosomal Recessive Nonsyndromic Deafness 61

Autosomal Recessive Deafness 61

Deafness, Autosomal Recessive, 61

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61

Deafness, Autosomal Recessive, Type 61

Deafness, Autosomal Recessive 8

Neurosensory Nonsyndromic Recessive Deafness 8

DFNB8

Dfnb10

Deafness, Autosomal Recessive 10

Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

Nsrd8

Autosomal Recessive Nonsyndromic Deafness 8

Deafness, Autosomal Recessive 8/10

Autosomal Recessive Deafness 10

Autosomal Recessive Deafness 8

Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

Nrsd8

Deafness, Autosomal Recessive, 8

Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

Deafness Autosomal Recessive 10

Deafness Autosomal Recessive 8/10

Deafness Neurosensory Autosomal Recessive 8

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

Deafness, Autosomal Recessive, Type 8/10

Deafness, Autosomal Recessive 28

DFNB28

Autosomal Recessive Nonsyndromic Deafness 28

Autosomal Recessive Deafness 28

Deafness, Autosomal Recessive, 28

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28

Deafness, Autosomal Recessive, Type 28

Deafness, Autosomal Dominant 65

DFNA65

Autosomal Dominant Nonsyndromic Deafness 65

Autosomal Dominant Deafness 65

Deafness, Autosomal Dominant, 65

Deafness, Autosomal Dominant, Type 65

Petroclival Meningioma
Deafness, Autosomal Recessive 86

DFNB86

Autosomal Recessive Nonsyndromic Deafness 86

Autosomal Recessive Deafness 86

Deafness, Autosomal Recessive, 86

Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Deafness, Autosomal Dominant 3a

DFNA3A

Autosomal Dominant Nonsyndromic Deafness 3a

Autosomal Dominant Deafness 3a

Deafness, Autosomal Dominant, 3a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

Deafness, Autosomal Dominant, Type 3a

Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias

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

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

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

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

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus CLRN2 VGNC VGNC:27463
Rattus norvegicus CLRN2 RGD RGD:1591112
Mus musculus CLRN2 MGD MGI:3646230
Felis catus CLRN2 VGNC VGNC:60977
Macaca mulatta CLRN2 VGNC VGNC:71380
Canis familiaris CLRN2 VGNC VGNC:39360