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Tbx6 Gene Detail
Summary
  • Symbol
    Tbx6
  • Name
    T-box 6
  • Feature Type
    protein coding gene
  • IDs
    MGI:102539
    NCBI Gene: 21389
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126380655-126384720 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.25 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    117 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_102539
 protein coding gene Chr7:126380655-126384732 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032998
 protein coding gene Chr7:131079843-131083920 (+)
A/J MGP_AJ_G0032981
 protein coding gene Chr7:127607248-127611325 (+)
AKR/J MGP_AKRJ_G0032913
 protein coding gene Chr7:130840983-130845061 (+)
BALB/cJ MGP_BALBcJ_G0032986
 protein coding gene Chr7:127268738-127272816 (+)
C3H/HeJ MGP_C3HHeJ_G0032696
 protein coding gene Chr7:130778676-130782753 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033492
 protein coding gene Chr7:136174240-136178317 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030464
 protein coding gene Chr7:128799670-128803736 (+)
CAST/EiJ MGP_CASTEiJ_G0032025
 protein coding gene Chr7:122565580-122569645 (+)
CBA/J MGP_CBAJ_G0032669
 protein coding gene Chr7:140757667-140761744 (+)
DBA/2J MGP_DBA2J_G0032821
 protein coding gene Chr7:125581016-125585093 (+)
FVB/NJ MGP_FVBNJ_G0032774
 protein coding gene Chr7:125429714-125433791 (+)
LP/J MGP_LPJ_G0032915
 protein coding gene Chr7:132550209-132554286 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032806
 protein coding gene Chr7:141938957-141943035 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033511
 protein coding gene Chr7:129847091-129851168 (+)
PWK/PhJ MGP_PWKPhJ_G0031732
 protein coding gene Chr7:118575989-118580066 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031578
 protein coding gene Chr7:116698067-116702146 (+)
WSB/EiJ MGP_WSBEiJ_G0032137
 protein coding gene Chr7:130827766-130831843 (+)



Homology
more
  • Human Ortholog
    TBX6, T-box transcription factor 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBX6, T-box transcription factor 6
  • Synonyms
    SCDO5
  • Links
    NCBI Gene ID: 6911
    neXtProt AC: NX_O95947
    UniProt: O95947

  • Chr Location
    16p11.2; chr16:30085793-30091924 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TBX6 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 6 alleles in 8 genetic backgrounds
    33 phenotypes from multigenic genotypes
    1 images
    63 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 null embryos die during organogenesis exhibiting defects in paraxial mesoderm differentiation, ectopic neural tube development, kinked neural tubes, impaired somite development, hematomas, enlarged tail buds, and laterality defects associated with nodal cilium anomalies.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    11
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
    1110
  • Tissues
    167
  • cDNA Data
    12
  • Literature Summary
    114
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21389 NCBI Gene Model | MGI Sequence Detail 4066 C57BL/6J ±  kb
    transcript NM_011538 RefSeq | MGI Sequence Detail 1731 ZRU/MplStud  
    polypeptide P70327 UniProt | EBI | MGI Sequence Detail 436 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 14
      Primer pair 3
      Other 19

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14254, MGD-MRK-19388, MGI:98208
    References
    more
    • Summaries
      All 200
      Developmental Gene Expression 114
      Diseases 4
      Gene Ontology 11
      Phenotypes 63
    • Earliest
      J:8119 Theiler K, et al., Development of rib-vertebrae: a new mutation in the house mouse with accessory caudal duplications. Anat Embryol (Berl). 1985;173(1):111-6
    • Latest
      J:349484 Henis M, et al., The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. Sci Adv. 2024 Apr 12;10(15):eadf7001
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory