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Tbx4 Gene Detail
Summary
  • Symbol
    Tbx4
  • Name
    T-box 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:102556
    NCBI Gene: 21387
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:85777248-85806923 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 51.42 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    725 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_102556
 protein coding gene Chr11:85777193-85806923 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018885
 protein coding gene Chr11:87419267-87452154 (+)
A/J MGP_AJ_G0018852
 protein coding gene Chr11:84059137-84089611 (+)
AKR/J MGP_AKRJ_G0018822
 protein coding gene Chr11:86577955-86607561 (+)
BALB/cJ MGP_BALBcJ_G0018825
 protein coding gene Chr11:84445041-84475637 (+)
C3H/HeJ MGP_C3HHeJ_G0018639
 protein coding gene Chr11:86598800-86630420 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019277
 protein coding gene Chr11:90074797-90109441 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016910
 protein coding gene Chr11:81097705-81127567 (+)
CAST/EiJ MGP_CASTEiJ_G0018194
 protein coding gene Chr11:87258213-87290209 (+)
CBA/J MGP_CBAJ_G0018610
 protein coding gene Chr11:93871094-93905343 (+)
DBA/2J MGP_DBA2J_G0018718
 protein coding gene Chr11:83637955-83667510 (+)
FVB/NJ MGP_FVBNJ_G0018707
 protein coding gene Chr11:83131277-83162304 (+)
LP/J MGP_LPJ_G0018788
 protein coding gene Chr11:87920301-87950523 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018734
 protein coding gene Chr11:93988739-94020607 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019317
 protein coding gene Chr11:86818956-86849049 (+)
PWK/PhJ MGP_PWKPhJ_G0017963
 protein coding gene Chr11:84416039-84445987 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017755
 protein coding gene Chr11:86363091-86392785 (+)
WSB/EiJ MGP_WSBEiJ_G0018245
 protein coding gene Chr11:86675415-86706275 (+)



Homology
more
  • Human Ortholog
    TBX4, T-box transcription factor 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX4, T-box transcription factor 4
  • Synonyms
    ICPPS, PAPPAS, SPS
  • Links
    NCBI Gene ID: 9496
    neXtProt AC: NX_P57082
    UniProt: P57082

  • Chr Location
    17q23.2; chr17:61452404-61485110 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human TBX4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    41 phenotypes from 6 alleles in 7 genetic backgrounds
    2 phenotypes from multigenic genotypes
    37 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.
Homozygotes for targeted null mutations exhibit stunted, apoptotic allantoises lacking vascular remodeling, fail to undergo chorioallantoic fusion, lack hindlimb buds, and die by embryonic day 10.5. Heterozygotes show mildly impaired allantois growth.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    10
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
    1151
  • Tissues
    204
  • cDNA Data
    19
  • Literature Summary
    90
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000000094 Ensembl Gene Model | MGI Sequence Detail 29676 C57BL/6J ±  kb
    transcript ENSMUST00000108047 Ensembl | MGI Sequence Detail 3153 Not Applicable  
    polypeptide ENSMUSP00000103682 Ensembl | MGI Sequence Detail 552 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 3
      cDNA 19
      Primer pair 7
      Other 21

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-19405
    References
    more
    • Summaries
      All 151
      Developmental Gene Expression 90
      Gene Ontology 10
      Phenotypes 37
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:347865 Chen KQ, et al., Sall genes regulate hindlimb initiation in mouse embryos. Genetics. 2024 Feb 22;
    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