Aliases for TJP2 Gene
Aliases for TJP2 Gene
External Ids for TJP2 Gene
- HGNC: 11828
- Entrez Gene: 9414
- Ensembl: ENSG00000119139
- OMIM: 607709
- UniProtKB: Q9UDY2
Previous HGNC Symbols for TJP2 Gene
- DFNA51
Previous GeneCards Identifiers for TJP2 Gene
- GC09P062833
- GC09P063592
- GC09P065359
- GC09P067246
- GC09P067193
- GC09P068965
- GC09P070956
- GC09P071766
- GC09P041580
Summaries for TJP2 Gene
-
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]
GeneCards Summary for TJP2 Gene
TJP2 (Tight Junction Protein 2) is a Protein Coding gene. Diseases associated with TJP2 include Cholestasis, Progressive Familial Intrahepatic, 4 and Hypercholanemia, Familial. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein binding, bridging. An important paralog of this gene is TJP1.
UniProtKB/Swiss-Prot for TJP2 Gene
-
Plays a role in tight junctions and adherens junctions.
Additional gene information for TJP2 Gene
- Monarch Initiative
- Search for TJP2 at DataMed
- Search for TJP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJP2 Gene
Genomics for TJP2 Gene
GeneHancer (GH) Regulatory Elements for TJP2 Gene
Promoters and enhancers for TJP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TJP2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TJP2 gene promoter:
Regulatory Element Products
Genomic Locations for TJP2 Gene
Genomic Locations for TJP2 Gene
- chr9:69,121,264-69,255,208
- (GRCh38/hg38)
- Size:
- 133,945 bases
- Orientation:
- Plus strand
- chr9:71,736,209-71,870,124
- (GRCh37/hg19)
Genomic View for TJP2 Gene
Genes around TJP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q21.11 by Ensembl
- 9q21.11 by Entrez Gene
- 9q21.11 by HGNC
TJP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TJP2 Gene
Proteins for TJP2 Gene
-
Protein details for TJP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UDY2-ZO2_HUMAN
- Recommended name:
- Tight junction protein ZO-2
- Protein Accession:
- Q9UDY2
- A2A3H9
- B7Z2R8
- B7Z7T6
- F5H301
- F5H886
- Q15883
- Q5VXL0
- Q5VXL1
- Q8N756
- Q8NI14
- Q99839
- Q9UDY0
- Q9UDY1
Protein attributes for TJP2 Gene
- Size:
- 1190 amino acids
- Molecular mass:
- 133958 Da
- Quaternary structure:
-
- Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus. Interacts with SCRIB. Interacts with USP53 (via the C-terminal region) (By similarity).
- SequenceCaution:
-
- Sequence=AAA61300.1; Type=Frameshift; Positions=1086, 1092, 1095; Evidence={ECO:0000305};
Protein Expression for TJP2 Gene
Post-translational modifications for TJP2 Gene
- Ubiquitination at isoforms=6, 7, 31016
Other Protein References for TJP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for TJP2 (ZO2)
-
Custom Antibody ServicesOriGene Antibodies for TJP2
- Novus Biologicals Antibodies for TJP2
-
Abcam antibodies for TJP2
-
Cloud-Clone Corp. Antibodies for TJP2
- Invitrogen Antibodies for TJP2
- GeneTex TJP2 antibody for TJP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for TJP2
- Sino Biological Antibodies for TJP2
Protein Products
-
OriGene Purified Proteins for TJP2
- Search Origene for MassSpec and Protein Over-expression Lysates for TJP2
- Origene Custom Protein Services for TJP2
-
Cloud-Clone Corp. Proteins for TJP2
- antibodies-online: Search results for 4 available TJP2 Proteins ranked by validation data
- Compare Top TJP2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for TJP2
-
Abcam proteins for TJP2
Assay Products
-
Cloud-Clone Corp. Assay Kits for TJP2
- antibodies-online: Search results for 6 available TJP2 Elisa Kits ranked by validation data
- Compare Top TJP2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for TJP2 Gene
Domains & Families for TJP2 Gene
Gene Families for TJP2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TJP2 Gene
Suggested Antigen Peptide Sequences for TJP2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UDY2- Family:
-
- Belongs to the MAGUK family.
Function for TJP2 Gene
Molecular function for TJP2 Gene
- GENATLAS Biochemistry:
- 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
- UniProtKB/Swiss-Prot Function:
- Plays a role in tight junctions and adherens junctions.
Phenotypes From GWAS Catalog for TJP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004385 | guanylate kinase activity | TAS | 8824195 |
| GO:0005515 | protein binding | IPI | 15975580 |
| GO:0008022 | protein C-terminus binding | IEA | -- |
| GO:0019904 | protein domain specific binding | IPI | 23885123 |
| GO:0030674 | protein binding, bridging | IDA | 23885123 |
Phenotypes for TJP2 Gene
- MGI mutant phenotypes for TJP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TJP2:
-
- Mitotic spindle defects
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Increased G1 DNA content
- G0/1 arrest
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased Hepatitis C virus replication
- Reduced shRNA abundance in FBW7 KO line
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
Animal Models for TJP2 Gene
- MGI Knock Outs for TJP2:
-
- Tjp2 tm1Whun
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TJP2
-
- Search ViGene Biosciences for TJP2
CRISPR Products
-
OriGene CRISPR knockouts for TJP2
- genomics-online: gRNA clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for TJP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TJP2
- GenScript: Design CRISPR guide RNA sequences for TJP2
miRNA for TJP2 Gene
- miRTarBase miRNAs that target TJP2
miRNA Products
- Search ViGene Biosciences for TJP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TJP2
- Browse OriGene Inhibitory RNA Products For TJP2
- genomics-online: shRNA clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for TJP2
- RC230621L1V
- RC230621L2V
- RG223155
- RC223155L2
- RC223155L1
- RC223155
- RG205295
- RC205295L2
- RC205295L1
- RC205295
- RG230605
- RC230605L2
- RC230605L1
- RC230605
- RG230677
- RC230677L2
- RC230677L1
- RC230677
- RG230664
- RC230664L2
- RC230664L1
- RC230664
- RG230621
- RC230621L2
- RC230621L1
- RC230621
- RC223155L2V
- RC223155L1V
- RC205295L2V
- RC205295L1V
- RC230605L2V
- RC230605L1V
- RC230677L2V
- RC230677L1V
- RC230664L2V
- RC230664L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TJP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TJP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TJP2
- genomics-online: cdna clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- orf clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- Applied Biological Materials Clones for TJP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TJP2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TJP2 Gene
Localization for TJP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TJP2 Gene
- Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction. Nucleus. Note=Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| extracellular | 1 |
- Cell Junctions (4)
- Cytosol (4)
- Plasma membrane (4)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005911 | cell-cell junction | IEA | -- |
Pathways & Interactions for TJP2 Gene
Pathways by source for TJP2 Gene
1 Cell Signaling Technology pathway for TJP2 Gene
1 BioSystems pathway for TJP2 Gene
7 Reactome pathways for TJP2 Gene
2 KEGG pathways for TJP2 Gene
3 GeneGo (Thomson Reuters) pathways for TJP2 Gene
4 R&D Systems pathways for TJP2 Gene
- Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
3 Qiagen pathways for TJP2 Gene
Interacting Proteins for TJP2 Gene
Selected Interacting proteins:
Q9UDY2-ZO2_HUMAN
ENSP00000438262
for TJP2 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010033 | response to organic substance | IEA | -- |
| GO:0035329 | hippo signaling | TAS | -- |
| GO:0046037 | GMP metabolic process | IEA | -- |
| GO:0046710 | GDP metabolic process | IEA | -- |
| GO:0050892 | intestinal absorption | IMP | 23885123 |
Transcripts for TJP2 Gene
mRNA/cDNA for TJP2 Gene
- (15) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (319) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TJP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for TJP2
- genomics-online: gRNA clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for TJP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TJP2
- GenScript: Design CRISPR guide RNA sequences for TJP2
miRNA Products
- Search ViGene Biosciences for TJP2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for TJP2
- Browse OriGene Inhibitory RNA Products For TJP2
- genomics-online: shRNA clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for TJP2
- RC230621L1V
- RC230621L2V
- RG223155
- RC223155L2
- RC223155L1
- RC223155
- RG205295
- RC205295L2
- RC205295L1
- RC205295
- RG230605
- RC230605L2
- RC230605L1
- RC230605
- RG230677
- RC230677L2
- RC230677L1
- RC230677
- RG230664
- RC230664L2
- RC230664L1
- RC230664
- RG230621
- RC230621L2
- RC230621L1
- RC230621
- RC223155L2V
- RC223155L1V
- RC205295L2V
- RC205295L1V
- RC230605L2V
- RC230605L1V
- RC230677L2V
- RC230677L1V
- RC230664L2V
- RC230664L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for TJP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TJP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TJP2
- genomics-online: cdna clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- orf clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
- Applied Biological Materials Clones for TJP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
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| SP16: |
| 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: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
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| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: |
Expression for TJP2 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (10.1), Nasal epithelium (9.8), Platelet (6.4), and Cervix (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TJP2 Gene
NURSA nuclear receptor signaling pathways regulating expression of TJP2 Gene:
TJP2SOURCE GeneReport for Unigene cluster for TJP2 Gene:
Hs.50382mRNA Expression by UniProt/SwissProt for TJP2 Gene:
Q9UDY2-ZO2_HUMAN
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.
Evidence on tissue expression from TISSUES for TJP2 Gene
- Nervous system(4.9)
- Blood(4.5)
- Liver(4.5)
- Muscle(4.2)
- Pancreas(4.2)
- Intestine(3.5)
- Kidney(2.6)
- Heart(2.5)
- Lung(2.3)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TJP2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- jaw
- mandible
- maxilla
- middle ear
- mouth
- outer ear
- salivary gland
- skull
- tooth
Thorax:
- breast
- chest wall
- esophagus
- heart
- heart valve
- rib
- rib cage
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- testicle
Limb:
- arm
- digit
- femur
- finger
- foot
- forearm
- hand
- lower limb
- nail
- radius
- shin
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for TJP2
-
OriGene qPCR primer pairs and template standards for TJP2
- genomics-online: primer clones - Search results for 129 available TJP2 gene related products
- Overview of 129 available TJP2 gene related products
-
Recommended
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TJP2 Gene
Orthologs for TJP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TJP2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | TJP2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ZO2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Tjp2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Tjp2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TJP2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TJP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TJP2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | TJP2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tjp2 33 |
|
||
| Str.14957 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4830 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tjp2a 33 34 |
|
||
| tjp2b 34 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5876 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | pyd 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | zoo-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for TJP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for TJP2 Gene
Paralogs for TJP2 Gene
(27) SIMAP similar genes for TJP2 Gene using alignment to 5 proteins:
Variants for TJP2 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057515612 | uncertain-significance, Nonsyndromic Hearing Loss, Dominant | 69,221,126(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs1057515613 | uncertain-significance, Nonsyndromic Hearing Loss, Dominant | 69,226,064(+) | C/T | coding_sequence_variant, stop_gained | |
| rs1057515614 | uncertain-significance, Nonsyndromic Hearing Loss, Dominant | 69,226,167(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1057515615 | uncertain-significance, Nonsyndromic Hearing Loss, Dominant | 69,230,248(+) | CTCT/CT | intron_variant | |
| rs1057515616 | uncertain-significance, Nonsyndromic Hearing Loss, Dominant | 69,236,985(+) | A/G | coding_sequence_variant, synonymous_variant |
Residual Variation Intolerance Score:
71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.19;
84.84% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TJP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TJP2 Gene
Disorders for TJP2 Gene
(10) MalaCards diseases for TJP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cholestasis, progressive familial intrahepatic, 4 |
|
|
| hypercholanemia, familial |
|
|
| deafness, autosomal dominant 51 |
|
|
| bile acid synthesis defect, congenital, 1 |
|
|
| autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
Search TJP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ZO2_HUMAN- Cholestasis, progressive familial intrahepatic, 4 (PFIC4) [MIM:615878]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269 PubMed:24614073}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269 PubMed:12704386}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Additional Disease Information for TJP2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TJP2 Gene
Publications for TJP2 Gene
- Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PMID: 12704386) Carlton VE … Bull LN (Nature genetics 2003) 3 4 22 58
- Organization and expression of the human zo-2 gene (tjp-2) in normal and neoplastic tissues. (PMID: 11018256) Chlenski A … Scarpelli DG (Biochimica et biophysica acta 2000) 3 4 22 58
- zo-2 gene alternative promoters in normal and neoplastic human pancreatic duct cells. (PMID: 10495427) Chlenski A … Scarpelli DG (International journal of cancer 1999) 3 4 22 58
- Tight junction protein ZO-2 is differentially expressed in normal pancreatic ducts compared to human pancreatic adenocarcinoma. (PMID: 10360833) Chlenski A … Scarpelli DG (International journal of cancer 1999) 3 4 22 58
- The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. (PMID: 7951235) Duclos F … Koenig M (Human molecular genetics 1994) 2 3 4 58
Products for TJP2 Gene
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TJP2
- antibodies-online: Search results for 105 available TJP2 Antibodies ranked by validation data
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Sources for TJP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew