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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:6130103-6135763 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 3.70 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    212 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107227
 protein coding gene Chr17:6130061-6136792 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023110
 protein coding gene Chr17:3240965-3247716 (+)
A/J MGP_AJ_G0023080
 protein coding gene Chr17:3167330-3174080 (+)
AKR/J MGP_AKRJ_G0023046
 protein coding gene Chr17:3244344-3251094 (+)
BALB/cJ MGP_BALBcJ_G0023083
 protein coding gene Chr17:3135851-3143250 (+)
C3H/HeJ MGP_C3HHeJ_G0022843
 protein coding gene Chr17:3277101-3283784 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023528
 protein coding gene Chr17:3404983-3412972 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021028
 protein coding gene Chr17:2948186-2955324 (+)
CAST/EiJ MGP_CASTEiJ_G0022361
 protein coding gene Chr17:3277371-3285282 (+)
CBA/J MGP_CBAJ_G0022810
 protein coding gene Chr17:3575537-3582167 (+)
DBA/2J MGP_DBA2J_G0022945
 protein coding gene Chr17:3023443-3030522 (+)
FVB/NJ MGP_FVBNJ_G0022918
 protein coding gene Chr17:3057313-3064044 (+)
LP/J MGP_LPJ_G0023013
 protein coding gene Chr17:3379567-3387794 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022939
 protein coding gene Chr17:3392770-3399527 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023547
 protein coding gene Chr17:3268799-3276631 (+)
PWK/PhJ MGP_PWKPhJ_G0022105
 protein coding gene Chr17:3095517-3102237 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021933
 protein coding gene Chr17:3209089-3215968 (+)
WSB/EiJ MGP_WSBEiJ_G0022411
 protein coding gene Chr17:3240849-3248481 (+)



Homology
more
  • Human Ortholog
    GTF2H5, general transcription factor IIH subunit 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GTF2H5, general transcription factor IIH subunit 5
  • Synonyms
    bA120J8.2, C6orf175, TFB5, TFIIH, TGF2H5, TTD, TTD3, TTD-A, TTDA
  • Links
    NCBI Gene ID: 404672
    neXtProt AC: NX_Q6ZYL4
    UniProt: Q6ZYL4

  • Chr Location
    6q25.3; chr6:158168350-158199344 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human GTF2H5 associations

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

  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 2 genetic backgrounds
    357 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.
Mice homozygous for a knock-out allele exhibit complete postnatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    9
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
    998
  • Tissues
    30
  • cDNA Data
    71
  • Literature Summary
    5
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 66467 NCBI Gene Model | MGI Sequence Detail 5661 C57BL/6J ±  kb
transcript NM_001357804 RefSeq | MGI Sequence Detail 1261 ZRU/MplStud  
polypeptide Q8K2X8 UniProt | EBI | MGI Sequence Detail 71 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 76
    cDNA 72
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-35692, MGI:1913717, MGI:1919816
References
more
  • Summaries
    All 388
    Developmental Gene Expression 5
    Diseases 6
    Gene Ontology 9
    Phenotypes 357
  • Earliest
    J:30229 Davisson MT, et al., Segmental trisomy as a mouse model for Down syndrome. Prog Clin Biol Res. 1993;384:117-33
  • Latest
    J:354984 Emili M, et al., Reversal of neurodevelopmental impairment and cognitive enhancement by pharmacological intervention with the polyphenol polydatin in a Down syndrome model. Neuropharmacology. 2024 Sep 27;261:110170
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
11/12/2024
MGI 6.24 		The Jackson Laboratory