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Gtf2h5 Gene Detail
Summary
  • Symbol
    Gtf2h5
  • Name
    general transcription factor IIH, polypeptide 5
  • Synonyms
    2700017P07Rik, 2810432H05Rik, D17Wsu155e
  • Feature Type
    protein coding gene
  • IDs
    MGI:107227
    NCBI Gene: 66467
Location & Maps
more
Homology
more
  • Human Ortholog
    GTF2H5, general transcription factor IIH subunit 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GTF2H5, general transcription factor IIH subunit 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA120J8.2, C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD3, TTDA, TTD-A
  • Links
    NCBI Gene ID: 404672
    neXtProt AC: NX_Q6ZYL4

  • Chr Location
    6q25.3; chr6:158168347-158199344 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human GTF2H5 associations

Human Disease Mouse Models
       Trichothiodystrophy 3, Photosensitive; TTD3   OMIM: 616395
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 2 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    26
  • Gene trapped
    16
  • Radiation induced
    9
  • Targeted
    1
  • Genomic Mutations
    9 involving Gtf2h5
Mice homozygous for a knock-out allele exhibit complete postnatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024049 VEGA Gene Model | MGI Sequence Detail 6732 C57BL/6J ±  kb
transcript OTTMUST00000058798 VEGA | MGI Sequence Detail 2245 Not Applicable  
polypeptide OTTMUSP00000028538 VEGA | MGI Sequence Detail 71 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    32 from dbSNP Build 137
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000008321 general transcription factor IIH subunit 5
  • InterPro Domains
    IPR009400 TFIIH subunit TTDA/Tfb5
Molecular
Reagents
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  • All nucleic 75
    cDNA 71
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-35692, MGI:1913717, MGI:1919816
References
more
  • Summaries
    All 32
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 9
  • Earliest
    J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
  • Latest
    J:200022 Theil AF, et al., Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality. PLoS Genet. 2013 Apr;9(4):e1003431

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory