2. Gene
  3. CLDN11 - claudin 11 Gene

CLDN11 - claudin 11 Gene

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

中文名称：密蛋白 11

种属: Homo sapiens

同用名: OSP; OTM; HLD22

基因 ID: 5010 | 基因类型: protein coding

关于 CLDN11

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:170,418,868-170,434,691 (from NCBI)

This gene has 7 transcripts (splice variants), 265 orthologues, 22 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 84.9), brain (RPKM 41.6) and 2 other tissues.

功能概要

该基因编码密蛋白家族的一个成员。 Claudins 是完整的膜蛋白和紧密连接链的组成部分。紧密连接链作为物理屏障，防止溶质和水自由通过上皮或内皮细胞片之间的细胞旁空间，并且在维持细胞极性和信号转导中也起着关键作用。该基因编码的蛋白质是中枢神经系统 (CNS) 髓鞘的主要成分，在调节少突胶质细胞的增殖和迁移中起重要作用。小鼠研究表明，基因缺陷会导致耳聋和睾丸支持细胞上皮表型的丧失。这种蛋白质是人类血睾屏障 (BTB) 上的一种紧密连接蛋白，BTB 破坏与该基因的功能障碍有关。已经识别出编码不同亚型的选择性剪接转录本变体。[RefSeq 提供，2010 年 8 月]

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]

CLDN11 基因产物(2)

mRNA Protein Name
NM_001185056.2 NP_001171985.1 claudin-11 isoform 2 precursor
NM_005602.6 NP_005593.2 claudin-11 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 identical protein binding IMP
IMP: 通过突变表型推断
30734065 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20375010 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tight junction assembly IDA
IDA: 通过直接分析推断
30734065 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon IDA
IDA: 通过直接分析推断
30734065 GOA
located in neurofilament IDA
IDA: 通过直接分析推断
30734065 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20375010 GOA
located in tight junction IDA
IDA: 通过直接分析推断
30734065 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

CLDN11 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (6 - 173)

  • 0
  • 100
  • 207 a.a.
蛋白主名 其他名称

claudin-11

oligodendrocyte transmembrane protein

重组 CLDN11 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74250 Claudin-11/CLDN11 Protein, Human (HEK293, Fc) O75508 (V23-R82) ≥95%

关联疾病

疾病名称 别名
Leukodystrophy, Hypomyelinating, 22

HLD22
Lyme Disease

Lyme Borreliosis

Lyme Neuroborreliosis

Borreliosis

Borrelia Burgdorferi Infection

Neuroborreliosis

Bannwarth Syndrome

Bannworth'S Syndrome

Neurological Lyme Disease

B. Burgdorferi Infection

Borreliosis, Lyme

Infection By Borrelia Burgdorferi

Infection Due To Borrelia Burgdorferi Sensu Lato

Lym

Borrelia Infections
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Leukodystrophy

Leukodystrophies
Deafness, Autosomal Recessive 29

DFNB29

Autosomal Recessive Nonsyndromic Deafness 29

Autosomal Recessive Deafness 29

Deafness, Autosomal Recessive, 29

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29

Deafness, Autosomal Recessive, Type 29
Amyotrophic Lateral Sclerosis 3

ALS3

Amyotrophic Lateral Sclerosis Type 3
Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord
Pyriform Sinus Cancer

Malignant Neoplasm Of Pyriform Fossa

Malignant Neoplasm Of The Pyriform Fossa

Malignant Tumor Of Pyriform Fossa
Acrodermatitis Chronica Atrophicans

Acrodermatitis Atrophicans Chronica

Herxheimer Disease

Primary Diffuse Atrophy
Orchitis

Inflammation Of Testis

Orchititis

Mumps Orchitis
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter
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-RS02764 CLDN11 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLDN11 RGD RGD:71081
Canis familiaris CLDN11 VGNC VGNC:49935
Macaca mulatta CLDN11 VGNC VGNC:81181
Bos taurus CLDN11 VGNC VGNC:53517
Felis catus CLDN11 VGNC VGNC:102671
Mus musculus CLDN11 MGD MGI:106925
Others CLDN11 NCBI
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