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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

OCLN Gene

protein-coding GIFtS: 59
GCID: GC05P068788

Occludin

Alzheimer's & Parkinson's Diseases Congress

32 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
occludin¹ ²
BLCPMG² ⁵
Tight Junction Protein Occludin TM4 Minus¹
Tight Junction Protein Occludin²

External Ids:	HGNC: 8104¹	Entrez Gene: 100506658²	Ensembl: ENSG00000197822⁷	OMIM: 602876⁵	UniProtKB: Q16625³

Export aliases for OCLN gene to outside databases

Previous GC identifers: GC05P068940 GC05P070353 GC05P068803 GC05P068823 GC05P065744

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OCLN Gene:

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)

GeneCards Summary for OCLN Gene:

OCLN (occludin) is a protein-coding gene. Diseases associated with OCLN include pseudo-torch syndrome, and torch syndrome, and among its related super-pathways are Development Slit-Robo signaling and Apoptotic execution phase. GO annotations related to this gene include protein binding and structural molecule activity.

UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625

Function: May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability

barrier. It is able to induce adhesion when expressed in cells lacking tight junctions

Gene Wiki entry for OCLN (Occludin) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.2 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the OCLN gene promoter:
GR Sox5 GR-beta AP-2gamma C/EBPalpha c-Myb GR-alpha AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): OCLN promoter sequence

Search SABiosciences Chromatin IP Primers for OCLN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OCLN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.1 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13.1

OCLN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OCLN gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P068788: view genomic region (about GC identifiers)

Start:	68,788,119 bp from pter	End:	68,853,931 bp from pter
Size:	65,813 bases	Orientation:	plus strand

1 alternative location:

Chr5+,NW_003315917.2 275,189-341,052

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625 (See protein sequence)

Recommended Name: Occludin

Size: 522 amino acids; 59144 Da

Subunit: Interacts with TJP1/ZO1 and with VAPA

Subcellular location: Membrane; Multi-pass membrane protein. Cell junction, tight junction

3 PDB 3D structures from and Proteopedia for OCLN:

1WPA (3D)

1XAW (3D)

3G7C (3D)

Secondary accessions: B5BU70 D2DU64 D2DU65 D2IGC0 D2IGC1 E2CYV9 Q5U1V4 Q8N6K1

Alternative splicing: 7 isoforms: Q16625-1 Q16625-2 Q16625-3 Q16625-4 Q16625-5 Q16625-6 Q16625-7

Explore the universe of human proteins at neXtProt for OCLN: NX_Q16625

Explore proteomics data for OCLN at MOPED

Post-translational modifications:

UniProtKB: Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact

with TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP1

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q16625

OCLN Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001192183.1 NP_001192184.1 NP_002529.1

ENSEMBL proteins:

ENSP00000347379 ENSP00000379719 ENSP00000370143 ENSP00000445940 ENSP00000440000

Reactome Protein details: Q16625
Human Recombinant Protein Products for OCLN:

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	Cloud-Clone Corp. Proteins for OCLN

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005911	cell-cell junction	IDA	19332538
GO:0005923	tight junction	IDA	--
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--

OCLN for ontologies About GeneDecksing

OCLN Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of OCLN
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	Cloud-Clone Corp. ELISAs for OCLN Cloud-Clone Corp. CLIAs for OCLN

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro protein domains:

IPR021128 MARVEL-like_dom

IPR008253 Marvel

IPR002958 Occludin

IPR010844 Occludin_RNApol2_elong_fac_ELL

Graphical View of Domain Structure for InterPro Entry Q16625

ProtoNet protein and cluster: Q16625

3 Blocks protein domains:

IPB002958 Occludin signature

IPB008253 Marvel

IPB010844 Occludin and RNA polymerase II elongation factor ELL

UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625

Domain: The C-terminal is cytoplasmic and is important for interaction with ZO-1. Sufficient for the tight

junction localization. Involved in the regulation of the permeability barrier function of the tight junction (By

similarity). The first extracellular loop participates in an adhesive interaction

Similarity: Belongs to the ELL/occludin family

Similarity: Contains 1 MARVEL domain

OCLN for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: OCLN_HUMAN, Q16625

Function: May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability

barrier. It is able to induce adhesion when expressed in cells lacking tight junctions

Genatlas biochemistry entry for OCLN:

occludin,60kDa,integral membrane at tight junctions of epithelial cells,highly expressed in

testis,kidney,liver,lung,brain,involved in the barrier and fence function of TJ,accessory protein in TJ strands

formation

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IEA	--
GO:0005515	protein binding	IPI	16616143

OCLN for ontologies About GeneDecksing

Phenotypes:
11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ocln):

behavior/neurological	digestive/alimentary	endocrine/exocrine gland	growth/size	homeostasis/metabolism
immune system	limbs/digits/tail	muscle	nervous system	reproductive system
skeleton

OCLN for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Ocln^tm2Sts for OCLN

inGenious Targeting Laboratory - Custom generated mouse model solutions for OCLN

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for OCLN

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OCLN

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OCLN

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCLN
		8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate OCLN (see all 59):
		hsa-miR-124* hsa-miR-21* hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-371-5p hsa-miR-570 hsa-miR-548l

		SwitchGear 3'UTR luciferase reporter plasmid: OCLN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for OCLN
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OCLN
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCLN

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for OCLN About (see all 14)

See pathways by source

SuperPath

Contained pathways About

Development Slit-Robo signaling

Pathogenic Escherichia coli infection

0.43

Pathogenic Escherichia coli infection

0.41

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

0.73

Apoptotic execution phase

0.73

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

0.38

Epithelial Tight Junctions

0.36

Cell adhesion Endothelial cell contacts by junctional mechanisms

Cell adhesion Endothelial cell contacts by junctional mechanisms

0.97

Cell adhesion Gap junctions

Cell adhesion Gap junctions

0.89

Pathways by source See SuperPaths
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for OCLN

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions
	Transendothelial Migration of Leukocytes

3 GeneGo (Thomson Reuters) Pathways for OCLN

	Cell adhesion Endothelial cell contacts by junctional mechanisms
	Cell adhesion Tight junctions
	Cell adhesion Gap junctions

2 BioSystems Pathways for OCLN

	Pathogenic Escherichia coli infection
	TGF-beta receptor signaling

4 Reactome Pathways for OCLN

	Apoptotic cleavage of cell adhesion proteins
	Apoptotic execution phase
	Apoptotic cleavage of cellular proteins
	Apoptosis

5 Kegg Pathways (Kegg details for OCLN):

	Cell adhesion molecules (CAMs)
	Tight junction
	Leukocyte transendothelial migration
	Pathogenic Escherichia coli infection
	Hepatitis C

OCLN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for OCLN

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for OCLN (Q16625^{2, 3} ENSP00000347379⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK1E	P49674²^,³, ENSP00000352929⁴	MINT-1892115 MINT-1892205 MINT-1892281 MINT-1892254 MINT-1892301 MINT-1892321 I2D: score=2 STRING: ENSP00000352929
SNW1	Q13573²^,³, ENSP00000261531⁴	MINT-1892144 I2D: score=1 STRING: ENSP00000261531
ULK1	O75385²^,³, ENSP00000324560⁴	MINT-1892167 I2D: score=1 STRING: ENSP00000324560
CSNK2B	P67870³, ENSP00000365025⁴	I2D: score=1 STRING: ENSP00000365025
ENSG00000224774	P67870³, ENSP00000415615⁴	I2D: score=1 STRING: ENSP00000415615

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006461	protein complex assembly	TAS	10749869
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--
GO:0045216	cell-cell junction organization	IMP	--

OCLN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OCLN

Search CenterWatch for drugs/clinical trials and news about OCLN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for OCLN gene (3 alternative transcripts):

NM_001205254.1 NM_001205255.1 NM_002538.3

Unigene Cluster for OCLN:

Occludin

Hs.592605 [show with all ESTs]

Unigene Representative Sequence: NM_002538

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000355237(uc003jwu.3 uc003jwv.4 uc021xzq.1 uc021xzr.1 uc021xzs.1 uc021xzt.1)

ENST00000396442 ENST00000514370 ENST00000510666 ENST00000380766 ENST00000538151

ENST00000542132

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OCLN
		8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate OCLN (see all 59):
		hsa-miR-124* hsa-miR-21* hsa-miR-607 hsa-miR-429 hsa-miR-500a hsa-miR-371-5p hsa-miR-570 hsa-miR-548l

		SwitchGear 3'UTR luciferase reporter plasmid: OCLN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional mRNA sequence:

AB451306.1 AB451437.1 AK290697.1 AK311037.1 AK313501.1 BC029886.1 DQ786238.1 FJ786083.1

FJ786084.1 GQ225096.1 GQ225097.1 GQ225098.1 U49184.1 U53823.1 Z70716.1

12 DOTS entries:

DT.456071 DT.100741549 DT.453238 DT.120845321 DT.438797 DT.100749715 DT.40118471 DT.120845253

DT.120845091 DT.120845165 DT.120845331 DT.100018590

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for OCLN About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7	^	8	^	9	^	10
SP1:
SP2:									-
SP3:
SP4:			-		-		-		-
SP5:							-		-

ECgene alternative splicing isoforms for OCLN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

OCLN expression in normal human tissues (normalized intensities) OCLN embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

OCLN expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/16 selected tissues (see all 16) fully expand


Lower Urinary Tract (Urinary System) fully expand to see all 3 entries
Ureter
visceral organ

Kidney (Urinary System) fully expand to see all 3 entries
Metanephros

Lung (Respiratory System) fully expand to see all 2 entries
Stem Bronchi

Nose (Sensory Organs) fully expand to see all 2 entries
sensory organ/nose/nasal cavity

Inner Cell Mass (Early Embryonic Tissues) fully expand to see all 2 entries
Line H7 (WA07)

See OCLN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OCLN

SOURCE GeneReport for Unigene cluster: Hs.592605

UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625

Tissue specificity: Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in

kidney. Not detected in testis

SABiosciences Expression via Pathway-Focused PCR Arrays including OCLN:

Endothelial Cell Biology in human mouse rat

Tight Junctions in human mouse rat

Cancer PathwayFinder in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OCLN

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OCLN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for OCLN gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ocln^{1 , 5}	occludin^{1, 5}	86.68(n)¹ 90.93(a)¹		13 (53.23 cM)⁵ 18260¹ NM_008756.2¹ NP_032782.1¹ 100496507⁵
chicken (Gallus gallus)	Aves	OCLN¹	occludin	52.9(n) 48.82(a)		396026 NM_205128.1 NP_990459.1
lizard (Anolis carolinensis)	Reptilia	OCLN⁶	occludin	64(a)	1 ↔ 1	2(16949470-16984218)
zebrafish (Danio rerio)	Actinopterygii	LOC100001136¹	occludin-like	50.79(n) 43.7(a)		100001136 XM_001341168.3 XP_001341204.3
fruit fly (Drosophila melanogaster)	Insecta	Su(Tpl)⁶	Su(Tpl)	4(a)	1 → many	3L(19882220-19902510)

ENSEMBL Gene Tree for OCLN (if available)
TreeFam Gene Tree for OCLN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for OCLN gene

OCLN for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for OCLN
PGOHUM00000260005

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_064910⁴		Band-like calcification with simplified gyration and polymicrogyria (BLCPMG)⁴	--	see VAR_064910	2	F S	mis⁴		0	--	--	--	--
rs74972448^1,2	F	--	68786200(+)	`CACTCG/ATGTGT`	1	--	us2k¹		1		EA	120
rs78917696^1,2	C	--	68786213(+)	`ACAGAG/TTAGGC`	2	--	us2k¹		0	--	--	--	--
rs77460048^1,2	C	--	68786214(+)	`CAGATA/TAGGCA`	2	--	us2k¹		0	--	--	--	--
rs73116892^1,2	C,F	--	68786288(+)	`CACAAC/TATGTC`	1	--	us2k¹		2		WA	120
rs141198263^1,2		--	68786406(+)	`AAAACA/GTATGT`	1	--	us2k¹		0	--	--	--	--
rs187160479^1,2		--	68786439(+)	`ATGTTC/GATAGT`	1	--	us2k¹		0	--	--	--	--
rs191203447^1,2	C	--	68786511(+)	`TTAAAC/TGAAAT`	1	--	us2k¹		0	--	--	--	--
rs115190810^1,2	C	--	68786512(+)	`TAAACA/GAAATG`	1	--	us2k¹		0	--	--	--	--
rs114471020^1,2	C,F	--	68786734(+)	`GGAGAA/GGGGAA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for OCLN (68788119 - 68853931 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/14 variations for OCLN (see all 14): About this table

Variant ID	Type	Subtype	PubMed ID
esv2669461	CNV	Deletion	23128226
nsv471498	CNV	Duplication	19718026
nsv329061	CNV	Insertion	16902084
esv32846	CNV	Loss	17666407
nsv821643	CNV	Loss	15273396
nsv881771	CNV	Loss	21882294
nsv881768	CNV	Loss	21882294
esv1009388	CNV	Gain	20482838
dgv6086n71	CNV	Gain	21882294
nsv881770	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): OCLN

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 602876
OMIM disorders: 251290
UniProtKB/Swiss-Prot: OCLN_HUMAN, Q16625

Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) [MIM:251290]: A neurologic

disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the

absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications,

and severe developmental delay. Note=The disease is caused by mutations affecting the gene represented in this

entry

20/32 diseases for OCLN (see all 32): About MalaCards

pseudo-torch syndrome torch syndrome polymicrogyria brain glioma

cerebral artery occlusion goldenhar syndrome vascular dementia biliary tract cancer

cholecystitis brain edema arteriovenous malformation cerebrovascular accident

vaginitis microcephaly spinal muscular atrophy diarrhea

dementia diabetic retinopathy muscular atrophy hepatitis c

6 diseases from the University of Copenhagen DISEASES database for OCLN:

Brain edema Diabetic retinopathy pseudo-TORCH syndrome Inflammatory bowel disease

Cerebrovascular accident Brain glioma

OCLN for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Export disorders for OCLN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for OCLN gene, integrated from 9 sources (see all 138):
(articles sorted by number of sources associating them with OCLN)

Utopia: connect your pdf to the dynamic
world of online information

Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues. (PubMed id 8601611)^{1, 2, 3} Ando-Akatsuka Y.... Tsukita S. (1996)
Recessive mutations in the gene encoding the tight ju nction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (PubMed id 20727516)^{1, 2} O'Driscoll M.C....Crow Y.J. (2010)
Splicing diversity of the human OCLN gene and its bio logical significance for hepatitis C virus entry. (PubMed id 20463075)^{1, 2} Kohaar I....Prokunina-Olsson L. (2010)
PKC eta regulates occludin phosphorylation and epithelial tight junction integrity. (PubMed id 19114660)^{1, 2} Suzuki T....Rao R. (2009)
Density-enhanced Phosphatase 1 Regulates Phosphorylation of Tight Junction Proteins and Enhances Barrier Function of Epithelial Cells. (PubMed id 19332538)^{1, 2} Sallee J.L. and Burridge K. (2009)
Phosphorylation of Tyr-398 and Tyr-402 in occludin prevents its interaction with ZO-1 and destabilizes its assembly at the tight junctions. (PubMed id 19017651)^{1, 2} Elias B.C....Rao R. (2009)
Identification and analysis of occludin phosphosites: a combined mass spectrometry and bioinformatics approach. (PubMed id 19125584)^{1, 2} Sundstrom J.M....Antonetti D.A. (2009)
Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. (PubMed id 18318008)^{1, 2} Han G.... Gu J. (2008)
Human protein factory for converting the transcriptome into an in vitro-expressed proteome. (PubMed id 19054851)^{1, 2} Goshima N.... Nomura N. (2008)
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)^{1, 2} Matsuoka S.... Elledge S.J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 100506658	HGNC: 8104	Ensembl:ENSG00000197822	euGenes: HUgn100506658	ECgene: OCLN	Kegg: 100506658
H-InvDB: OCLN

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for OCLN	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Occludin

Intellectual Property for OCLN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for OCLN gene:
Search GeneIP for patents involving OCLN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

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