OCLN - occludin Gene

Homo sapiens

Also known as BLCPMG; PTORCH1; PPP1R115

Gene ID: 100506658 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16616143	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	20164257	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	20164257	GOA
acts upstream of or within cell-cell junction organization	IMP IMP: Inferred from mutant phenotype	20164257	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	21415414	GOA
involved in negative regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	28718701	GOA
involved in positive regulation of D-glucose import	IMP IMP: Inferred from mutant phenotype	28718701	GOA
involved in positive regulation of blood-brain barrier permeability	IMP IMP: Inferred from mutant phenotype	24854121	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	28718701	GOA
involved in regulation of D-glucose transmembrane transport	IMP IMP: Inferred from mutant phenotype	28718701	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in bicellular tight junction	IDA IDA: Inferred from direct assay	20028514	GOA
located in cell junction	IDA IDA: Inferred from direct assay	24567356	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	19332538	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	20164257	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	28718701	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11090614	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26607202	GOA
located in tight junction	IDA IDA: Inferred from direct assay	30734065	GOA
located in tight junction	IMP IMP: Inferred from mutant phenotype	24854121	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OCLN Protein Structure

MARVEL

Occludin_ELL

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

occludin

phosphatase 1, regulatory subunit 115

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09743	OCLN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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