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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TJP2 Gene

protein-coding GIFtS: 63
GCID: GC09P071766

tight junction protein 2

(Previous names: deafness, autosomal dominant 51 )
(Previous symbol: DFNA51)

Explore 22 diseases affiliated with
TJP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tight Junction Protein 2¹ ² ³		C9DUPq21.11²
ZO2¹ ² ³ ⁵		DUP9q21.11²
X104¹ ² ³		Friedreich Ataxia Region Gene X104 (Tight Junction Protein ZO-2)²
DFNA51¹ ²		Tight Junction Protein ZO-2²
Zonula Occludens Protein 2² ³		Zona Occludens 2²
ZO-2¹		Zona Occludens Protein 2³
Deafness, Autosomal Dominant 51¹

External Ids:	HGNC: 11828¹	Entrez Gene: 9414²	Ensembl: ENSG00000119139⁷	OMIM: 607709⁵	UniProtKB: Q9UDY2³

Export aliases for TJP2 gene to outside databases

Previous GC identifers: GC09P062833 GC09P063592 GC09P065359 GC09P067246 GC09P067193 GC09P068965 GC09P070956 GC09P041580

(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 TJP2:

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The

encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is

necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with

hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51.

Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. (provided by RefSeq,

Nov 2011)

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2

Function: Plays a role in tight junctions and adherens junctions

Gene Wiki entry for TJP2 (Tight junction protein 2)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TJP2 gene promoter:
AP-1 p53 ATF-2 c-Jun C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TJP2 promoter sequence

Search SABiosciences Chromatin IP Primers for TJP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TJP2

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

Entrez Gene cytogenetic band: 9q13-q21 Ensembl cytogenetic band: 9q21.11 HGNC cytogenetic band: 9q13-q21

TJP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TJP2 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P071766: view genomic region (about GC identifiers)

Start:	71,736,224 bp from pter	End:	71,870,124 bp from pter
Size:	133,901 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2 (See protein sequence)

Recommended Name: Tight junction protein ZO-2

Size: 1190 amino acids; 133958 Da

Subunit: Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in

the nucleus. Interacts with SCRIB

Subcellular location: Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side

(By similarity). Cell junction, tight junction (By similarity). Nucleus (By similarity). Note=Also nuclear under

environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures (By

similarity)

Sequence caution: Sequence=AAA61300.1; Type=Frameshift; Positions=1086, 1092, 1095;

2 PDB 3D structures from and Proteopedia for TJP2:

2OSG (3D)

3E17 (3D)

Secondary accessions: A2A3H9 B7Z2R8 B7Z7T6 F5H301 F5H886 Q15883 Q5VXL0 Q5VXL1 Q8N756 Q8NI14 Q99839

Q9UDY0 Q9UDY1

Alternative promoter usage, Alternative splicing: 7 isoforms: Q9UDY2-1 Q9UDY2-2 Q9UDY2-5 Q9UDY2-3 Q9UDY2-4 Q9UDY2-6 Q9UDY2-7 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TJP2: NX_Q9UDY2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UDY2

TJP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001163885.1 NP_001163886.1 NP_001163887.1 NP_001164101.1 NP_004808.2 NP_963923.1

ENSEMBL proteins:

ENSP00000366469 ENSP00000402941 ENSP00000366453 ENSP00000345893 ENSP00000265384

ENSP00000442090 ENSP00000438262 ENSP00000392178

Reactome Protein details: Q9UDY2
Human Recombinant Protein Products for TJP2:

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	Novus Biologicals TJP2 Protein Novus Biologicals TJP2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TJP2

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:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0005912	adherens junction	IEA	--

TJP2 for ontologies About GeneDecksing

TJP2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TJP2
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	Abcam antibodies for TJP2
	Uscn Antibodies for TJP2
	ThermoFisher Antibodies for TJP2

Assay Products for TJP2:

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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TJP2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TJP2

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

TJP2 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR011511 SH3_2

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR001478 PDZ

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry Q9UDY2

ProtoNet protein and cluster: Q9UDY2

5/6 Blocks protein families (see all 6):

IPB001452 SH3 domain signature

IPB001478 PDZ/DHR/GLGF domain

IPB005417 Zona occludens protein family signature

IPB005419 Zona occludens protein ZO-2 signature

IPB008144 Guanylate kinase

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2

Similarity: Belongs to the MAGUK family

Similarity: Contains 1 guanylate kinase-like domain

Similarity: Contains 3 PDZ (DHR) domains

Similarity: Contains 1 SH3 domain

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: ZO2_HUMAN, Q9UDY2

Function: Plays a role in tight junctions and adherens junctions

Genatlas biochemistry entry for TJP2:

tight junction (zona occludens) protein ZO-2,homolog to yeast guanylate kinase and Drosophila lethal discs large tumor

suppressor protein (Dlg),interacting with occludin,TJP1,the F actin skeleton and alpha catenin

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:0004385	guanylate kinase activity	TAS	8824195
GO:0005515	protein binding	IPI	18823282

TJP2 for ontologies About GeneDecksing

Phenotypes:
5 GenomeRNAi human phenotypes for TJP2:

Decreased Hepatitis C virus re	Downregulation of NF-kappaB pa	Downregulation of NF-kappaB pa	G0/1 arrest
Increased S DNA content

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tjp2):

cellular

embryogenesis

growth/size

mortality/aging

TJP2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TJP2

miRNA Products:		miRTarBase miRNAs that target TJP2: hsa-mir-124 (MIRT002718)

		OriGene 3'-UTR Clone (see all 2): TJP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TJP2
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP2 (see all 14):
		hsa-miR-498 hsa-miR-3163 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-2110 hsa-miR-23c hsa-miR-181a-2* hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: TJP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for TJP2
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TJP2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TJP2 (see all 7) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 6): TJP2 (NM_201629)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TJP2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Gap junctions

Cell adhesion_Gap junctions

1.00

Cell adhesion Gap junctions

0.89

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

1.00

Apoptotic execution phase

0.73

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Cell adhesion Endothelial cell contacts by junctional mechanisms

Cell adhesion Endothelial cell contacts by junctional mechanisms

1.00

Cell adhesion_Endothelial cell contacts by junctional mechanisms

0.97

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Epithelial Tight Junctions

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for TJP2

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

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TJP2

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Tight Junctions
	Signaling in Gap Junctions

1 Cell Signaling Technology (CST) Pathway for TJP2

Adhesion

3 GeneGo (Thomson Reuters) Pathways for TJP2

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

1 BioSystems Pathway for TJP2

Validated targets of C-MYC transcriptional repression

5/6 Reactome Pathways for TJP2 (see all 6)

	Signaling by Hippo
	Apoptotic cleavage of cell adhesion proteins
	Apoptotic execution phase
	Apoptotic cleavage of cellular proteins
	Signal Transduction

2 Kegg Pathways (Kegg details for TJP2):

	Tight junction
	Vibrio cholerae infection

TJP2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TJP2

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

5/64 Interacting proteins for TJP2 (Q9UDY2^{2, 3} ENSP00000366453⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAB	P31946²^,³, ENSP00000300161⁴	MINT-50953 I2D: score=4 STRING: ENSP00000300161
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-50823 I2D: score=4 STRING: ENSP00000306330
TJP1	Q07157²^,³, ENSP00000281537⁴	MINT-6800622 I2D: score=3 STRING: ENSP00000281537
BCR	P11274²^,³, ENSP00000303507⁴	MINT-69540 I2D: score=1 STRING: ENSP00000303507
WWTR1	Q9GZV5²^,³, ENSP00000353847⁴	MINT-7995020 I2D: score=1 STRING: ENSP00000353847

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	TAS	--
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	TAS	--
GO:0035329	hippo signaling cascade	TAS	--

TJP2 for ontologies About GeneDecksing

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

TJP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TJP2
4 Novoseek chemical compound relationships for TJP2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate	55.8	4	8566365 (1), 9837755 (1), 12403786 (1), 11716757 (1)
calcium	12.7	5	8408213 (1), 10883394 (1), 19176351 (1)
atp	0	3	10330056 (3)
tyrosine	0	4	10330056 (2), 7542259 (1)

Search CenterWatch for drugs/clinical trials and news about TJP2 / ZO2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TJP2 gene (6 alternative transcripts):

NM_001170414.2 NM_001170415.1 NM_001170416.1 NM_001170630.1 NM_004817.3 NM_201629.3

Unigene Cluster for TJP2:

Tight junction protein 2

Hs.50382 [show with all ESTs]

Unigene Representative Sequence: NM_004817

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

ENST00000377259 ENST00000423935 ENST00000377245(uc004ahe.3 uc004ahf.3)

ENST00000348208(uc010mom.1) ENST00000265384(uc004ahd.3) ENST00000498204

ENST00000535702(uc011lru.2) ENST00000539225(uc011lrv.2) ENST00000453658(uc004ahb.1 uc011lrt.1 uc011lrs.2)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TJP2 Browse OriGene MicroRNA Expression Plasmids
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		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP2 (see all 14):
		hsa-miR-498 hsa-miR-3163 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-2110 hsa-miR-23c hsa-miR-181a-2* hsa-miR-124

		SwitchGear 3'UTR luciferase reporter plasmid: TJP2 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TJP2 (see all 7) OriGene shRNA RFP: TJP2 Browse OriGene siRNA
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TJP2

Additional cDNA sequence:

AF083892.1 AF083893.1 AF489824.1 AK295016.1 AK295034.1 AK302483.1 AK304447.1 AK307697.1

AK308564.1 BC027592.1 BC028426.1 L27476.1 U84581.1

24 DOTS entries:

DT.454601 DT.101980037 DT.100822240 DT.95174262 DT.100036395 DT.40220809 DT.102832607 DT.121157064

DT.91761503 DT.121157078 DT.100822241 DT.121157018 DT.121157065 DT.40115922 DT.95174266 DT.100822239

DT.102832604 DT.121157037 DT.121157041 DT.121157112 DT.305712 DT.95174254 DT.92050174 DT.95336235

24/319 AceView cDNA sequences (see all 319):

AI343382 BE501903 BE327034 AW662702 AV650602 CB153750 NM_004817 AV650575

CB161675 BM982533 CA425756 AF083892 AW950623 AW276574 BM974356 CB161832

BM837618 AA781310 AI479213 CA426497 BX116223 AW002261 AI363319 AI354289

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for TJP2 (see all 16) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	·	13c	·	13d	^	14	^	15	^	16	^	17	^	18	^
SP1:															-		-		-		-										-		-
SP2:															-		-		-		-										-		-
SP3:											-		-		-		-		-		-										-		-
SP4:											-		-				-		-		-
SP5:																			-		-										-		-

ExUns:	19a	·	19b	^	20a	·	20b	^	21	^	22	^	23	^	24	^	25a	·	25b	·	25c	^	26a	·	26b	^	27a	·	27b	·	27c	^	28	^	29a	·	29b	^	30	^	31a	·	31b	·	31c	^	32a	·	32b
SP1:	-																				-		-								-				-								-		-
SP2:	-																				-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TJP2

(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

TJP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATTGACAAC

About this image

TJP2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TJP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TJP2

SOURCE GeneReport for Unigene cluster: Hs.50382

UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2

Tissue specificity: This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain.

Detected in brain and skeletal muscle. It is present almost exclusively in normal tissues. Isoform C1 is expressed at

high level in the kidney, pancreas, heart and placenta. Not detected in brain and skeletal muscle. Found in normal as

well as in most neoplastic tissues

SABiosciences Expression via Pathway-Focused PCR Arrays including TJP2:

Tight Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Gap Junctions in human mouse rat

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In Situ
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(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)
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This gene was present in the common ancestor of animals.

Orthologs for TJP2 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TJP2¹	tight junction protein 2 (zona occludens 2)	73.68(n) 78.62(a)		395751 NM_204918.1 NP_990249.1
lizard (Anolis carolinensis)	Reptilia	TJP2⁶	--	74(a)	1 ↔ 1	2(49612129-49638674)
African clawed frog (Xenopus laevis)	Amphibia	Xl.4830²	Xenopus laevis transcribed sequence with moderate similarity more	77.09(n)		BJ068509.1
zebrafish (Danio rerio)	Actinopterygii	tjp2a¹	tight junction protein 2a (zona occludens 2)	61.04(n) 61.87(a)		565446 NM_001201570.1 NP_001188499.1
fruit fly (Drosophila melanogaster)	Insecta	pyd⁶	polychaetoid	12(a)	1 → many	3R(4652790-4757599)
worm (Caenorhabditis elegans)	Secernentea	zoo-1⁶	ZO-1 (Zonula Occludens tight junctional protein) O...	20(a)	1 → many	I(14529519-14546709)

ENSEMBL Gene Tree for TJP2 (if available)
TreeFam Gene Tree for TJP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TJP2 gene

DLG5² TJP3² TJP1²

18/28 SIMAP similar genes for TJP2 using alignment to 4 protein entries: ZO2_HUMAN (see all proteins) (see all similar genes):

TJP1 DLG4 DLG1 TJP3 DKFZp686M05161 DLG3

PDZK1P1 PDZK1P2 DLG2 GOPC IL16 ERBB2IP

LRRC7 PTPN13 PDZD2 INADL MPDZ FRMPD2

TJP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10118146^1,2	C,F,A,H	--	71734198(+)	`GCGCCC/TGCCAC`	1	--	us2k¹		5		NA WA	12
rs144064312^1,2		--	71734232(+)	`ATTTTC/TAGTAG`	1	--	us2k¹		0	--	--	--	--
rs146452226^1,2		--	71734253(+)	`TCACCA/GTGGTA`	1	--	us2k¹		0	--	--	--	--
rs192615787^1,2		--	71734255(+)	`ACCATA/GGTAGC`	1	--	us2k¹		0	--	--	--	--
rs140827895^1,2		--	71734325(+)	`GGATTA/CCAGGT`	1	--	us2k¹		0	--	--	--	--
rs10781425^1,2	C,F,A,H	--	71734346(+)	`AAGCCT/CGGCCC`	1	--	us2k¹		7		NA WA EA	366
rs77363868^1,2	C	--	71734351(+)	`CGGCCC/TGTTTT`	1	--	us2k¹		2		WA	120
rs12353531^1,2		--	71734378(+)	`acagtG/Ttaagg`	1	--	us2k¹		0	--	--	--	--
rs144987993^1,2	C	--	71734426(+)	`TTATG-/ACAGTGA`	1	--	us2k¹		0	--	--	--	--
rs199559570^1,2		--	71734529(+)	`GAATT-/CCGTTC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TJP2 (71736224 - 71870124 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 26 variations for TJP2
15/18 CNVs (see all 18): 62909 39554 96099 44393 96100 96101 83050 22576 36961 43585 100651 39553 100652 100653 83051
8 Indels: 62910 43125 42685 41175 47727 13170 41176 47726
Human Gene Mutation Database (HGMD): TJP2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TJP2 for disorders           About GeneDecksing

OMIM gene information: 607709
OMIM disorders: 607748
UniProtKB/Swiss-Prot: ZO2_HUMAN, Q9UDY2

Defects in TJP2 are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is a disorder characterized

by elevated serum bile acid concentrations, itching, and fat malabsorption

20/22 diseases for TJP2 (see all 22): About MalaCards

hypercholanemia friedreich ataxia hypercholanemia, familial ataxia

intrahepatic cholestasis squamous cell carcinoma lung squamous cell carcinoma brain edema

otosclerosis cholestasis multiple sclerosis breast cancer

cholera colon carcinoma adenocarcinoma dementia

carcinoma colorectal cancer glioblastoma hypoxia

5 Novoseek disease relationships for TJP2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenocarcinoma	13.7	5	10360833 (1), 11018256 (1), 17585317 (1), 10495427 (1)
breast cancer	0	1	15571953 (1)
tumors	0	4	7590743 (1), 8132716 (1), 7485497 (1)
carcinoma	0	1	10495427 (1)
cancer	0	1	11018256 (1)

Export disorders for TJP2 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)
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PubMed articles for TJP2 gene, integrated from 9 sources (see all 156):
(articles sorted by number of sources associating them with TJP2)

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The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PubMed id 7951235)^{1, 2, 3} Duclos F.... Koenig M. (1994)
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PubMed id 12704386)^{1, 2, 9} Carlton V.E.H.... Bull L.N. (2003)
Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues. (PubMed id 11018256)^{1, 2, 9} Chlenski A....Scarpelli D.G. (2000)
Zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells. (PubMed id 10495427)^{1, 2, 9} Chlenski A.... Scarpelli D.G. (1999)
Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma. (PubMed id 10360833)^{1, 2, 9} Chlenski A.... Scarpelli D.G. (1999)
Genomic duplication and overexpression of TJP2/ZO-2 l eads to altered expression of apoptosis genes in progressive nonsyndromic heari ng loss DFNA51. (PubMed id 20602916)^{1, 3} Walsh T....Avraham K.B. (2010)
Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NaCos). (PubMed id 18823282)^{1, 2} Aho S.... Gruffat H. (2009)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
hScrib interacts with ZO-2 at the cell-cell junctions of epithelial cells. (PubMed id 15975580)^{1, 2} Metais J.Y....Borg J.P. (2005)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9414	HGNC: 11828	AceView: TJP2	Ensembl:ENSG00000119139	euGenes: HUgn9414
ECgene: TJP2	Kegg: 9414	H-InvDB: TJP2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TJP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TJP2 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 TJP2 gene:
Search GeneIP for patents involving TJP2

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

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tight junction protein 2

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tight junction protein 2

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