1. Gene
  2. OCLN - occludin Gene

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

OCLN Protein Structure

MARVEL

MARVEL: Membrane-associating domain (57 - 263)

Occludin_ELL

Occludin_ELL: Occludin homology domain (420 - 519)

  • 0
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  • 200
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  • 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

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