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Cldn5 Gene Detail
Summary
  • Symbol
    Cldn5
  • Name
    claudin 5
  • Synonyms
    Tmvcf
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276112
    NCBI Gene: 12741
  • Gene Overview
    MyGene.info: CLDN5
Location & Maps
more
  • Sequence Map
    Chr16:18776847-18778260 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1414 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.63 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    CLDN5, claudin 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CLDN5, claudin 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AWAL, BEC1, CPETRL1, TMVCF
  • Links
    NCBI Gene ID: 7122
    neXtProt AC: NX_O00501

  • Chr Location
    22q11.21; chr22:19523024-19525337 (-)  GRCh38.p2

Human Diseases
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  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    31 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.
  • All Mutations and Alleles
    8
  • Targeted
    8
  • Genomic Mutations
    5 involving Cldn5
Homozygous mutation of this gene results in size-selective loosening of the blood-brain barrier. Homozygous mutant neonates gradually cease movement and die within 10 hours after birth.
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 ENSMUSG00000041378 Ensembl Gene Model | MGI Sequence Detail 1414 C57BL/6J ±  kb
transcript ENSMUST00000043577 Ensembl | MGI Sequence Detail 1414 Not Applicable  
polypeptide ENSMUSP00000041925 Ensembl | MGI Sequence Detail 218 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    26 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 83
    Genomic 15
    cDNA 64
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGI:1095399, MGI:2146515
References
more
  • Summaries
    All 89
    Developmental Gene Expression 46
    Diseases 9
    Gene Ontology 8
    Phenotypes 31
  • Earliest
    J:41222 Sirotkin H, et al., Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. Genomics. 1997 Jun 1;42(2):245-51
  • Latest
    J:227364 Sohet F, et al., LSR/angulin-1 is a tricellular tight junction protein involved in blood-brain barrier formation. J Cell Biol. 2015 Mar 16;208(6):703-11

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory