2. Gene
  3. OCLN - occludin Gene

OCLN - occludin Gene

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

中文名称：闭合蛋白

种属: Homo sapiens

同用名: BLCPMG; PTORCH1; PPP1R115

基因 ID: 100506658 | 基因类型: protein coding

关于 OCLN

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:69,492,547-69,558,104 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 258 orthologues, 5 paralogues and is associated with 3 phenotypes. Broad expression in thyroid (RPKM 16.6), lung (RPKM 10.9) and 18 other tissues.

功能概要

该基因编码细胞因子诱导调节紧密连接细胞旁通透性屏障所需的完整膜蛋白。该基因的突变被认为是带状钙化伴简化回旋和多小脑回 (BLC-PMG) 的原因，这是一种常染色体隐性遗传神经系统疾病，也称为假性 TORCH 综合征。可变剪接导致多个转录本变体。相关假基因存在于 5 号染色体 q 臂下游 1.5 Mb 处。[RefSeq 提供，2011 年 4 月]

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]

OCLN 基因产物(4)

mRNA Protein Name
NM_001205254.2 NP_001192183.1 occludin isoform a
NM_001205255.1 NP_001192184.1 occludin isoform b precursor
NM_001410743.1 NP_001397672.1 occludin isoform c
NM_002538.4 NP_002529.1 occludin isoform a
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
16616143 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
20164257 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicellular tight junction assembly IMP
IMP: 通过突变表型推断
20164257 GOA
acts upstream of or within cell-cell junction organization IMP
IMP: 通过突变表型推断
20164257 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
21415414 GOA
involved in negative regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
28718701 GOA
involved in positive regulation of D-glucose import IMP
IMP: 通过突变表型推断
28718701 GOA
involved in positive regulation of blood-brain barrier permeability IMP
IMP: 通过突变表型推断
24854121 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
28718701 GOA
involved in regulation of D-glucose transmembrane transport IMP
IMP: 通过突变表型推断
28718701 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bicellular tight junction IDA
IDA: 通过直接分析推断
20028514 GOA
located in cell junction IDA
IDA: 通过直接分析推断
24567356 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
19332538 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
20164257 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
28718701 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11090614 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
26607202 GOA
located in tight junction IDA
IDA: 通过直接分析推断
30734065 GOA
located in tight junction IMP
IMP: 通过突变表型推断
24854121 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

OCLN 蛋白结构

MARVEL

MARVEL: Membrane-associating domain (57 - 263)

Occludin_ELL

Occludin_ELL: Occludin homology domain (420 - 519)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
蛋白主名 其他名称

occludin

phosphatase 1, regulatory subunit 115

OCLN 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 OCLN Q16625 DNM2 Homo sapiens P50570-2
Validated Y2H
32814053
Intra OCLN Q16625 DNM2 Homo sapiens P50570-2
Y2H Pooling
32814053
Intra OCLN Q16625 DNM2 Homo sapiens P50570-2
Y2H Array
32814053
Intra OCLN Q16625 GPX8 Homo sapiens Q8TED1
Y2H Array
32296183
Intra OCLN Q16625 GPX8 Homo sapiens Q8TED1
Y2H Prey Pooling
32296183
Intra OCLN Q16625 GPX8 Homo sapiens Q8TED1
Validated Y2H
32296183
Intra OCLN Q16625 CLEC7A Homo sapiens Q9BXN2
Y2H Array
25416956
Intra OCLN Q16625 CLEC7A Homo sapiens Q9BXN2
Y2H Prey Pooling
25416956
Intra OCLN Q16625 SYNE4 Homo sapiens Q8N205
Y2H Prey Pooling
25416956
Intra OCLN Q16625 SYNE4 Homo sapiens Q8N205
Y2H Array
25416956
Intra OCLN Q16625 NDUFV2 Homo sapiens P19404
Validated Y2H
32814053
Intra OCLN Q16625 NDUFV2 Homo sapiens P19404
Y2H Array
32814053
Intra OCLN Q16625 NDUFV2 Homo sapiens P19404
Y2H Pooling
32814053
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Anti Tag CoIP
33961781
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Pull Down
16616143
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Protein Kinase Assay
16616143
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Anti Tag CoIP
28514442
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Imaging
16616143
Intra OCLN Q16625 CSNK1E Homo sapiens P49674
Anti Bait CoIP
16616143
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
Pseudo-Torch Syndrome 1

Pseudo-Torch Syndrome

Band-Like Calcification With Simplified Gyration And Polymicrogyria

Blcpmg

PTORCH1

Baraitser-Brett-Piesowicz Syndrome

Baraitser-Reardon Syndrome

Bilateral Band-Like Calcification With Polymicrogyria

Blc-Pmg

Microcephaly-Intracranial Calcification-Intellectual Disability Syndrome

Congenital Intrauterine Infection-Like Syndrome

Baraitser Brett Piesowicz Syndrome

Microcephaly - Intracranial Calcification - Intellectual Disability
Torch Syndrome
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
Polymicrogyria

Pmg
Irritable Bowel Syndrome

Irritable Colon

Psychogenic Ibs

Ibs - [Irritable Bowel Syndrome]

Spastic Bowel Syndrome
Meckel Diverticulum

Meckel'S Diverticulum

Persistent Vitelline Duct
Oligospermia
Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus
Acute Vascular Insufficiency Of Intestine

Acute Gastrointestinal Tract Vascular Insuffic.

Acute Git Vascular Insuffic.

Acute Intestinal Ischemia

Acute Intestinal Vascular Insufficiency
Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin
Deafness, Autosomal Recessive 49

DFNB49

Autosomal Recessive Nonsyndromic Deafness 49

Autosomal Recessive Deafness 49

Deafness, Autosomal Recessive, 49

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49

Deafness, Autosomal Recessive, Type 49
Deafness, Autosomal Recessive 100

DFNB100

Autosomal Recessive Nonsyndromic Deafness 100

Autosomal Recessive Deafness 100

Deafness, Autosomal Recessive, 100
Perinatal Necrotizing Enterocolitis

Necrotizing Enterocolitis

Enterocolitis Necrotizing

Enterocolitis, Necrotizing

Necrotizing Enterocolitis In Fetus Or Newborn

Perinatal Necrotising Enterocolitis

Pseudomembranous Enterocolitis In Newborn

Nec
Adermatoglyphia

ADERM

Immigration Delay Disease

Absence Of Fingerprints

Adg

Congenital Absence Of Fingerprints

Isolated Congenital Adermatoglyphia

Fingerprints, Absence Of

Skin Abnormalities
Streptococcal Meningitis
Intracranial Embolism

Cerebral Embolism

Cerebral Embolism With Cerebral Infarction
Alcoholic Psychosis

Psychoses, Alcoholic

Alcoholic Psychoses
Diabetic Macular Edema
Leukostasis
Macular Retinal Edema

Macular Edema

Macular Oedema

Macular Retinal Oedema

Macular Edema, Cystoid
Cerebral Artery Occlusion
Collagenous Colitis

Colitis, Collagenous

Microscopic Colitis, Collagenous Type
Microscopic Colitis

Colitis, Microscopic
Autoimmune Disease Of Gastrointestinal Tract
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
Dysentery

Infectious Diarrhea
Retinal Vascular Disease

Retinal Vascular

Retinal Vascular Disorder

Retina Circulation Disorder
Crohn'S Disease

Crohn Disease

Pediatric Crohn'S Disease

Regional Enteritis

Crohn'S Disease Of Large Bowel

Granulomatous Colitis

Enteritis, Granulomatous

Enteritis

Crohn'S Disease Of Colon

Colitis, Granulomatous

Crohn'S Enteritis

Enteritis, Regional

Ileitis

Adenoviral Enteritis

Acute Gastroenteropathy Due To Norwalk Agent

Viral Gastroenteritis Due To Norwalk Agent

Winter Vomiting

Epidemic Winter Vomiting Disease

Small Round Structured Virus Enteritis

Epidemic Vomiting Syndrome

Epidemic Vomiting

Epidemic Nausea

Epidemic Viral Gastroenteritis Due To Norwalk Virus

Noroviral Enteritis

Crohn Disease Nos

Crohns

Cd - [Crohn'S Disease]

Regional Enteritis Of Bowel

Crohn'S Regional Enteritis

Cobble-Stone Appearance Of Intestine

Intestinal Ulcer And Erosion Due To Crohn Disease

Granulomatous Enteritis
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
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy
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-RS09743 OCLN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus OCLN MGD MGI:106183
Felis catus OCLN VGNC VGNC:68615
Rattus norvegicus OCLN RGD RGD:620089
Bos taurus OCLN VGNC VGNC:32397
Canis familiaris OCLN VGNC VGNC:44094
Macaca mulatta OCLN VGNC VGNC:75576
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