OCLN - occludin Gene

Also Known as BLCPMG; PTORCH1; PPP1R115

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 100506658

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	References	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	References	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	References	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

OCLN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

OCLN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81155	Occludin/OCLN Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P81231	Occludin Antibody	IHC-P, IHC-F, ICC/IF, FC, ELISA	Human, Mouse, Rat
HY-P85807	Occludin Antibody (YA5499)	WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86420	Occludin Antibody (YA6112)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09743	OCLN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22265	Ocln Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28788	Ocln Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	OCLN	NCBI