2. Gene
  3. CLDN5 - claudin 5 Gene

CLDN5 - claudin 5 Gene

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

中文名称：密蛋白 5

种属: Homo sapiens

同用名: AWAL; BEC1; TMVCF; TMDVCF; CPETRL1

基因 ID: 7122 | 基因类型: protein coding

关于 CLDN5

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,523,024-19,525,337 (from NCBI)

This gene has 4 transcripts (splice variants), 239 orthologues and 22 paralogues. Biased expression in fat (RPKM 51.6), lung (RPKM 14.0) and 6 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。紧密连接链用作物理屏障，以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。在患有腭心面综合征的患者中发现了该基因的突变。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2018 年 5 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. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

CLDN5 基因产物(4)

mRNA Protein Name
NM_001130861.1 NP_001124333.1 claudin-5 isoform 1
NM_001363066.2 NP_001349995.1 claudin-5 isoform 2
NM_001363067.2 NP_001349996.1 claudin-5 isoform 1
NM_003277.4 NP_003268.2 claudin-5 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 protein binding IPI
IPI: 通过物理相互作用推断
25323998 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-cell junction assembly IMP
IMP: 通过突变表型推断
23288152 GOA
involved in establishment of blood-retinal barrier IMP
IMP: 通过突变表型推断
25323998 GOA
involved in maintenance of blood-brain barrier IMP
IMP: 通过突变表型推断
28961379 GOA
involved in negative regulation of angiogenesis IMP
IMP: 通过突变表型推断
25323998 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
25323998 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
25323998 GOA
involved in negative regulation of vascular permeability IMP
IMP: 通过突变表型推断
28961379 GOA
involved in positive regulation of bicellular tight junction assembly IMP
IMP: 通过突变表型推断
25323998 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
28961379 GOA
involved in positive regulation of establishment of endothelial barrier IMP
IMP: 通过突变表型推断
23288152 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
25323998 GOA
involved in positive regulation of protein binding IMP
IMP: 通过突变表型推断
25323998 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
21168935 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apicolateral plasma membrane IDA
IDA: 通过直接分析推断
9892664 GOA
located in bicellular tight junction IDA
IDA: 通过直接分析推断
9892664 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
18065521 GOA
located in cell-cell junction IMP
IMP: 通过突变表型推断
25753039 GOA
colocalizes with cortical actin cytoskeleton IDA
IDA: 通过直接分析推断
25816133 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23137377 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

CLDN5 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (91 - 266)

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

claudin-5

transmembrane protein deleted in VCFS

CLDN5 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
Intra CLDN5 O00501 VAMP5 Homo sapiens O95183
Validated Y2H
32296183
Intra CLDN5 O00501 SFTPC Homo sapiens P11686
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM182 Homo sapiens Q6ZP80
Validated Y2H
32296183
Intra CLDN5 O00501 CYB561A3 Homo sapiens Q8NBI2
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM190 Homo sapiens Q8WZ59
Validated Y2H
32296183
Intra CLDN5 O00501 SLC35B4 Homo sapiens Q969S0
Validated Y2H
32296183
Intra CLDN5 O00501 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM128 Homo sapiens Q5BJH2-2
Validated Y2H
32296183
Intra CLDN5 O00501 ERMP1 Homo sapiens Q7Z2K6
Validated Y2H
32296183
Intra CLDN5 O00501 PLPPR2 Homo sapiens Q96GM1
Validated Y2H
32296183
Intra CLDN5 O00501 BTNL8 Homo sapiens Q6UX41-6
Validated Y2H
32296183
Intra CLDN5 O00501 EFNA5 Homo sapiens P52803
Validated Y2H
32296183
Intra CLDN5 O00501 CORIN Homo sapiens Q9Y5Q5
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM14C Homo sapiens Q9P0S9
Validated Y2H
32296183
Intra CLDN5 O00501 EHHADH Homo sapiens Q08426
Validated Y2H
32296183
Intra CLDN5 O00501 LHFPL5 Homo sapiens Q8TAF8
Validated Y2H
32296183
Intra CLDN5 O00501 CNPY3 Homo sapiens Q9BT09
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM140 Homo sapiens Q9NV12
Validated Y2H
32296183
Intra CLDN5 O00501 PMP22 Homo sapiens Q01453
Validated Y2H
32296183
Intra CLDN5 O00501 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra CLDN5 O00501 TMEM222 Homo sapiens Q9H0R3
Validated Y2H
32296183
Intra CLDN5 O00501 CXCL9 Homo sapiens Q07325
Validated Y2H
32296183
Intra CLDN5 O00501 TSPAN2 Homo sapiens O60636
Validated Y2H
32296183
Intra CLDN5 O00501 SGCG Homo sapiens Q13326
Validated Y2H
32296183
Intra CLDN5 O00501 PLP2 Homo sapiens Q04941
Validated Y2H
32296183
Intra CLDN5 O00501 GYPA Homo sapiens P02724
Validated Y2H
32296183
Intra CLDN5 O00501 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra CLDN5 O00501 TF Homo sapiens P02787
Validated Y2H
32296183
Intra CLDN5 O00501 SMIM3 Homo sapiens Q9BZL3
Validated Y2H
32296183
Intra CLDN5 O00501 AQP1 Homo sapiens P29972
Validated Y2H
32296183
Intra CLDN5 O00501 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
Intra CLDN5 O00501 CTRL Homo sapiens P40313
Validated Y2H
32296183
Intra CLDN5 O00501 LAT Homo sapiens O43561-2
Validated Y2H
32296183
Intra CLDN5 O00501 MIP Homo sapiens P30301
Validated Y2H
32296183
Intra CLDN5 O00501 CCDC167 Homo sapiens Q9P0B6
Validated Y2H
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
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Brain Edema

Cerebral Edema

Intracranial Swelling

Wet Brain
Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis

Meningoencephalitis Due To Acquired Toxoplasmosis

Meningoencephalitis Due To Toxoplasmosis

Toxoplasma Meningoencephalitis
Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4
Angiostrongyliasis

A. Cantonensis Angiostrongyliasis
Cerebral Artery Occlusion
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
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-RS02773 CLDN5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CLDN5 VGNC VGNC:27417
Mus musculus CLDN5 MGD MGI:1276112
Felis catus CLDN5 VGNC VGNC:60938
Rattus norvegicus CLDN5 RGD RGD:68431
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