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  2. CLDN4 - claudin 4 Gene

CLDN4 - claudin 4 Gene

中文名称:紧密连接蛋白 4

种属: Homo sapiens

同用名: CPER; CPE-R; CPETR; CPETR1; WBSCR8; hCPE-R

基因 ID: 1364 | 基因类型: protein coding

关于 CLDN4

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,830,996-73,832,690 (from NCBI)

This gene has 5 transcripts (splice variants), 339 orthologues and 22 paralogues.

功能概要

由这种无内含子基因编码的蛋白质属于密蛋白家族。 Claudins 是完整的膜蛋白,是上皮细胞紧密连接的组成部分,可调节溶质和离子通过细胞旁空间的运动。这种蛋白质是产气荚膜梭状芽孢杆菌肠毒素 (CPE) 的高亲和力受体,可能在出生前后的内脏器官发育和功能中发挥作用。该基因在 Williams-Beuren 综合征中被删除,这是一种影响多个系统的神经发育障碍。[RefSeq 提供,2013 年 9 月]

The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]

CLDN4 基因产物(1)

mRNA Protein Name
NM_001305.5 NP_001296.1 claudin-4

CLDN4 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (4 - 180)

  • 0
  • 100
  • 209 a.a.
蛋白主名 其他名称

claudin-4

CPE-receptor

重组 CLDN4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P700405 Claudin-4/CLDN4 Protein-VLP, Human (HEK293, His) O14493 (M1-V209) ≥95%

关联疾病

疾病名称 别名
Ovarian Cystadenoma

Cystoma Serosum Simplex

Simple Cystoma Of Ovary

Simple Cystoma Of The Ovary

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Breast Carcinoma In Situ

Carcinoma In Situ Of Breast

Non-Infiltrating Carcinoma Of Breast

Breast Cancer In Situ

Papillary Carcinoma

Carcinoma, Papillary

Carcinoma Papillary

Peritoneal Serous Papillary Adenocarcinoma

Primary Serous Papillary Carcinoma Of Peritoneum

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

Inflammatory Bowel Disease 20

IBD20

Smarca4-Deficient Sarcoma Of Thorax

Smarca4-Dts

Smarca4-Deficient Thoracic Sarcoma

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Sarcomatoid Mesothelioma

Malignant Fibrous Mesothelioma

Spindled Mesothelioma

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Collagenous Colitis

Colitis, Collagenous

Microscopic Colitis, Collagenous Type

Peritoneal Serous Adenocarcinoma

Primary Peritoneal Serous Adenocarcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Large Cell Carcinoma With Rhabdoid Phenotype

Large Cell Lung Carcinoma With Rhabdoid Phenotype

Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Lymphohistiocytoid Mesothelioma
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

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
Canis familiaris CLDN4 VGNC VGNC:39321
Macaca mulatta CLDN4 VGNC VGNC:80864
Rattus norvegicus CLDN4 RGD RGD:1307932
Felis catus CLDN4 VGNC VGNC:60937
Bos taurus CLDN4 VGNC VGNC:27416
Mus musculus CLDN4 MGD MGI:1313314
Others CLDN4 NCBI