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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18595597-18597012 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 11.63 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    26 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276112
 protein coding gene Chr16:18595597-18597012 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022617
 protein coding gene Chr16:16032813-16034226 (+)
A/J MGP_AJ_G0022578
 protein coding gene Chr16:15232598-15234011 (+)
AKR/J MGP_AKRJ_G0022555
 protein coding gene Chr16:15848873-15850286 (+)
BALB/cJ MGP_BALBcJ_G0022583
 protein coding gene Chr16:15384744-15386157 (+)
C3H/HeJ MGP_C3HHeJ_G0022350
 protein coding gene Chr16:16000601-16002014 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023032
 protein coding gene Chr16:16351105-16352518 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020552
 protein coding gene Chr16:15268783-15270222 (+)
CAST/EiJ MGP_CASTEiJ_G0021877
 protein coding gene Chr16:15902711-15904126 (+)
CBA/J MGP_CBAJ_G0022319
 protein coding gene Chr16:17028457-17029870 (+)
DBA/2J MGP_DBA2J_G0022451
 protein coding gene Chr16:15144800-15146213 (+)
FVB/NJ MGP_FVBNJ_G0022426
 protein coding gene Chr16:15208692-15210105 (+)
LP/J MGP_LPJ_G0022518
 protein coding gene Chr16:15785687-15787100 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022448
 protein coding gene Chr16:16663677-16665090 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023043
 protein coding gene Chr16:15767309-15768722 (+)
PWK/PhJ MGP_PWKPhJ_G0021619
 protein coding gene Chr16:15440931-15442346 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021448
 protein coding gene Chr16:15725601-15727016 (+)
WSB/EiJ MGP_WSBEiJ_G0021923
 protein coding gene Chr16:15794239-15795654 (+)



Homology
more
  • Human Ortholog
    CLDN5, claudin 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLDN5, claudin 5
  • Synonyms
    AWAL, BEC1, CPETRL1, TMDVCF, TMVCF
  • Links
    NCBI Gene ID: 7122
    neXtProt AC: NX_O00501
    UniProt: O00501

  • Chr Location
    22q11.21; chr22:19523024-19527545 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CLDN5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    64 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 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
less
  • All GO Annotations
    56
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    906
  • Tissues
    131
  • cDNA Data
    63
  • Literature Summary
    90
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 12741 NCBI Gene Model | MGI Sequence Detail 1416 C57BL/6J ±  kb
transcript NM_013805 RefSeq | MGI Sequence Detail 1420 ZRU/MplStud  
polypeptide O54942 UniProt | EBI | MGI Sequence Detail 218 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 87
    Genomic 15
    cDNA 65
    Primer pair 6
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1095399, MGI:2146515
References
more
  • Summaries
    All 203
    Developmental Gene Expression 90
    Diseases 4
    Gene Ontology 12
    Phenotypes 64
  • 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:350577 Yuki K, et al., GPR124 regulates murine brain embryonic angiogenesis and BBB formation by an intracellular domain-independent mechanism. Development. 2024 Jun 1;151(11)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory