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

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Tbp Gene Detail

Symbol

Tbp
Name

TATA box binding protein
Synonyms

Gtf2d

Feature Type

protein coding gene
IDs

MGI:101838
NCBI Gene: 21374
Alliance

gene page
Transcription Start Sites

3 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr17:15720150-15737689 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 8.95 cM
Mapping Data

14 experiments

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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 (+)

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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

HGNC:11588

NCBI Gene ID: 6908

neXtProt AC: NX_P20226

UniProt: P20226
Chr Location

6q27; chr6:170554302-170572870 (+) GRCh38

MGI Vertebrate Homology

Tbp stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TBP
Gene Tree

Tbp

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Diseases

1 with Tbp mouse models; 4 with human TBP associations

Human Disease

Mouse Models

Human and Mouse genes associated with disease

Human and Mouse genes associated with disease

spinocerebellar ataxia type 17

IDs

View 1 model

Human gene associated with disease

late onset Parkinson's disease

IDs

IDs

type 1 diabetes mellitus

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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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.

All Mutations and Alleles

13
Gene trapped

5
Targeted

8
Incidental Mutations

CvDC
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

88
GO References

31

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.

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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

966
Tissues

201
cDNA Data

19
Literature Summary

51

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA TBP

Xenbase tbp

ZFIN tbp

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All Sequences

65
RefSeq

2
UniProt

10
CCDS

CCDS37454.2

Ensembl

ENSMUSG00000014767 (Evidence)
NCBI Gene

21374

Representative Sequences				Length	Strain/Species	Flank
	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

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UniProt

10 Sequences
Protein Ontology

PR:000016137 TATA-box-binding protein

(term hierarchy)
InterPro Domains

IPR000814 TATA-box binding protein

IPR030491 TATA-box binding protein, conserved site

IPR033710 TATA-box binding protein, eukaryotic

IPR012295 TBP domain superfamily

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All nucleic 46

Genomic 13

cDNA 21

Primer pair 10

Other 2

Microarray probesets 3

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MGD-MRK-18659, MGD-MRK-24009

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Summaries

All 149

Developmental Gene Expression 51

Diseases 1

Gene Ontology 31

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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