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Tjp2 Gene Detail
Summary
  • Symbol
    Tjp2
  • Name
    tight junction protein 2
  • Synonyms
    ZO-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341872
    NCBI Gene: 21873
  • Gene Overview
    MyGene.info: TJP2
Location & Maps
more
  • Sequence Map
    Chr19:24094523-24225026 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      130504 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 19.17 cM, cytoband C1
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TJP2, tight junction protein 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TJP2, tight junction protein 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C9DUPq21.11, DFNA51, DUP9q21.11, PFIC4, X104, ZO2
  • Links
    NCBI Gene ID: 9414
    neXtProt AC: NX_Q9UDY2

  • Chr Location
    9q13-q21; chr9:69121264-69255208 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3541
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: TJP2
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human TJP2 associations

Human Disease Mouse Models
       Cholestasis, Progressive Familial Intrahepatic, 4; PFIC4   OMIM: 615878
Hypercholanemia, Familial; FHCA   OMIM: 607748
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024812 Ensembl Gene Model | MGI Sequence Detail 130504 C57BL/6J ±  kb
transcript ENSMUST00000099558 Ensembl | MGI Sequence Detail 4591 Not Applicable  
polypeptide ENSMUSP00000097154 Ensembl | MGI Sequence Detail 1167 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1477 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 165
    cDNA 165

    Microarray probesets 5
References
more
  • Summaries
    All 62
    Developmental Gene Expression 23
    Gene Ontology 10
    Phenotypes 12
  • Earliest
    J:53203 Itoh M, et al., Characterization of ZO-2 as a MAGUK family member associated with tight as well as adherens junctions with a binding affinity to occludin and alpha catenin. J Biol Chem. 1999 Feb 26;274(9):5981-6
  • Latest
    J:221347 Hubmacher D, et al., Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia - a novel mouse model providing insights into geleophysic dysplasia. Dis Model Mech. 2015 May 1;8(5):487-99

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory