Tbp MGI Mouse Gene Detail - MGI:101838 - TATA box binding protein

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Tbp Gene Detail
Summary
  • Symbol
    Tbp
  • Name
    TATA box binding protein
  • Synonyms
    Gtf2d
  • Feature Type
    protein coding gene
  • IDs
    MGI:101838
    NCBI Gene: 21374
  • Alliance
  • Transcription Start Sites
    3 TSS
  • Candidate for QTL
    3 QTL
Location &
Maps
more
  • Sequence Map
    Chr17:15720150-15737689 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 17, 8.95 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    356 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101838
protein coding gene Chr17:15720150-15748641 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023175
protein coding gene Chr17:13342676-13371968 (+)
A/J MGP_AJ_G0023141
protein coding gene Chr17:13087560-13117180 (+)
AKR/J MGP_AKRJ_G0023111
protein coding gene Chr17:13052595-13082694 (+)
BALB/cJ MGP_BALBcJ_G0023141
protein coding gene Chr17:13040540-13069042 (+)
C3H/HeJ MGP_C3HHeJ_G0022902
protein coding gene Chr17:13242403-13276290 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023584
protein coding gene Chr17:13952178-13982296 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021096
protein coding gene Chr17:11107681-11137371 (+)
CAST/EiJ MGP_CASTEiJ_G0022419
protein coding gene Chr17:13155112-13183994 (+)
CBA/J MGP_CBAJ_G0022878
protein coding gene Chr17:14405000-14443971 (+)
DBA/2J MGP_DBA2J_G0023011
protein coding gene Chr17:12810555-12839562 (+)
FVB/NJ MGP_FVBNJ_G0022977
protein coding gene Chr17:12654743-12684617 (+)
LP/J MGP_LPJ_G0023085
protein coding gene Chr17:13338427-13369319 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023000
protein coding gene Chr17:13941120-13970074 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023620
protein coding gene Chr17:13293608-13323747 (+)
PWK/PhJ MGP_PWKPhJ_G0022167
protein coding gene Chr17:12300592-12329892 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021997
protein coding gene Chr17:12247818-12277031 (+)
WSB/EiJ MGP_WSBEiJ_G0022478
protein coding gene Chr17:13615109-13643893 (+)



Homology
more
  • Human Ortholog
    TBP, TATA-box binding protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBP, TATA-box binding protein
  • Synonyms
    GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID
  • Links
    NCBI Gene ID: 6908
    UniProt: P20226

  • Chr Location
    6q27; chr6:170554302-170572870 (+) GRCh38
Human Diseases
more
  • Diseases
    1 with Tbp mouse models; 4 with human TBP associations

Human Disease Mouse Models
IDs
spinocerebellar ataxia type 17
View 1 model
Mouse Models

Human Disease Modeled: spinocerebellar ataxia type 17

Allelic Composition Genetic Background Reference Phenotypes
Tbptm1Xjl/Tbp+
Tg(CAG-cre/Esr1*)5Amc/0
 involves: 129S/SvEv * C57BL/6 * CBA J:213011 View
IDs
late onset Parkinson's disease
IDs
schizophrenia

DOID:5419
DOID:14734
ICD10CM:F20
ICD9CM:295
ICD9CM:295.8
ICD9CM:295.80
ICD9CM:295.9
ICD9CM:295.90
MESH:D012559
NCI:C3362
OMIM:181500
UMLS_CUI:C0036341
IDs
type 1 diabetes mellitus

DOID:9744
ICD10CM:E10
KEGG:04940
MESH:D003922
NCI:C2986
OMIM:222100
UMLS_CUI:C0011854
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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.
Mice homozygous for one null allele exhibit embryonic lethality caused by hemorrhaging and clotting in the placenta and surviving embryos die prior to weaning. Mice homozygous for another null allele undergo growth arrest after hatching and apoptosis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
  • Comparison Matrix
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21374 NCBI Gene Model | MGI Sequence Detail 17540 C57BL/6J ± kb
    transcript NM_013684 RefSeq | MGI Sequence Detail 1842 ZRU/MplStud
    polypeptide P29037 UniProt | EBI | MGI Sequence Detail 316 Not Applicable
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      Genomic 13
      cDNA 21
      Primer pair 10
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-18659, MGD-MRK-24009
    References
    more
    • Summaries
      All 153
      Developmental Gene Expression 51
      Diseases 1
      Gene Ontology 35
      Phenotypes 19
    • Earliest
      J:21431 Tamura T, et al., Striking homology of the 'variable' N-terminal as well as the 'conserved core' domains of the mouse and human TATA-factors (TFIID). Nucleic Acids Res. 1991 Jul 25;19(14):3861-5
    • Latest
      J:337771 El-Saafin F, et al., Loss of TAF8 causes TFIID dysfunction and p53-mediated apoptotic neuronal cell death. Cell Death Differ. 2022 May;29(5):1013-1027
    TSS for Tbp:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr142753 Chr17:15720170-15720221 (+) 46 bp
    Tssr142754 Chr17:15720223-15720238 (+) 81 bp
    Tssr142755 Chr17:15720406-15720445 (+) 276 bp
    Tbp is Candidate Gene for:
    QTL Genetic Location* Genome Location (GRCm39) Reference QTL Note
    Insq5 Chr17, syntenic J:91835 The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 17, Tbp (8.25 cM) shows differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Obq4 (4 cM) maps near candidate gene Tbp. Vegfa (28 cM) shows differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Trbv4c1 (23 cM) maps near candidate gene Vegfa. Ppm1b (50.8 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Insq5 (56.7 cM) maps near candidate gene Ppm1b.
    Obq4 Chr17, 4.92 cM J:91835 The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 17, Tbp (8.25 cM) shows differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Obq4 (4 cM) maps near candidate gene Tbp. Vegfa (28 cM) shows differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Trbv4c1 (23 cM) maps near candidate gene Vegfa. Ppm1b (50.8 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Insq5 (56.7 cM) maps near candidate gene Ppm1b.
    Trbv4c1 Chr17, 20.67 cM J:91835 The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 17, Tbp (8.25 cM) shows differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTL Obq4 (4 cM) maps near candidate gene Tbp. Vegfa (28 cM) shows differential expression between A/a and A/A animals on the restricted diet. Diabesity QTL Trbv4c1 (23 cM) maps near candidate gene Vegfa. Ppm1b (50.8 cM) shows differential expression between the restricted and unrestricted diets on the A/A background. Diabesity QTL Insq5 (56.7 cM) maps near candidate gene Ppm1b.
    *cM position of peak correlated region/marker
    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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    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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