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Tbx5 Gene Detail
Summary
  • Symbol
    Tbx5
  • Name
    T-box 5
  • Feature Type
    protein coding gene
  • IDs
    MGI:102541
    NCBI Gene: 21388
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:119970733-120023284 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 60.42 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1219 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_102541
 protein coding gene Chr5:119934581-120023285 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029999
 protein coding gene Chr5:123141336-123199264 (+)
A/J MGP_AJ_G0029963
 protein coding gene Chr5:118060329-118112637 (+)
AKR/J MGP_AKRJ_G0029902
 protein coding gene Chr5:121877478-121931925 (+)
BALB/cJ MGP_BALBcJ_G0029974
 protein coding gene Chr5:119484350-119536879 (+)
C3H/HeJ MGP_C3HHeJ_G0029694
 protein coding gene Chr5:122412008-122468835 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030429
 protein coding gene Chr5:127780797-127836768 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027655
 protein coding gene Chr5:112787811-112840724 (+)
CAST/EiJ MGP_CASTEiJ_G0029103
 protein coding gene Chr5:121498758-121558581 (+)
CBA/J MGP_CBAJ_G0029662
 protein coding gene Chr5:132753104-132816830 (+)
DBA/2J MGP_DBA2J_G0029812
 protein coding gene Chr5:118162379-118215410 (+)
FVB/NJ MGP_FVBNJ_G0029768
 protein coding gene Chr5:117065541-117119578 (+)
LP/J MGP_LPJ_G0029900
 protein coding gene Chr5:123617893-123671204 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029799
 protein coding gene Chr5:136764076-136823341 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030470
 protein coding gene Chr5:121447778-121504149 (+)
PWK/PhJ MGP_PWKPhJ_G0028816
 protein coding gene Chr5:116905306-116960134 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028654
 protein coding gene Chr5:119088915-119144316 (+)
WSB/EiJ MGP_WSBEiJ_G0029178
 protein coding gene Chr5:122032404-122089998 (+)



Homology
more
  • Human Ortholog
    TBX5, T-box transcription factor 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX5, T-box transcription factor 5
  • Synonyms
    HOS
  • Links
    NCBI Gene ID: 6910
    neXtProt AC: NX_Q99593
    UniProt: Q99593

  • Chr Location
    12q24.21; chr12:114353911-114408442 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Tbx5 mouse models; 1 with human TBX5 associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 3 alleles in 9 genetic backgrounds
    9 phenotypes from multigenic genotypes
    67 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.
Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    103
  • GO References
    33
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
non-membrane-bounded 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
    1366
  • Tissues
    280
  • cDNA Data
    23
  • Literature Summary
    306
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000018263 Ensembl Gene Model | MGI Sequence Detail 52552 C57BL/6J ±  kb
    transcript ENSMUST00000018407 Ensembl | MGI Sequence Detail 3942 Not Applicable  
    polypeptide ENSMUSP00000018407 Ensembl | MGI Sequence Detail 518 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      cDNA 24
      Primer pair 26
      Other 39

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-19390
    References
    more
    • Summaries
      All 403
      Developmental Gene Expression 306
      Diseases 3
      Gene Ontology 33
      Phenotypes 67
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:350467 Li Y, et al., Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17;134(12)
    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
    10/22/2024
    MGI 6.24     		The Jackson Laboratory