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Gtf2h2 Gene Detail
Summary
  • Symbol
    Gtf2h2
  • Name
    general transcription factor II H, polypeptide 2
  • Synonyms
    44kDa, basal transcription factor 2, p44 subunit, Btf2p44, p44
  • Feature Type
    protein coding gene
  • IDs
    MGI:1345669
    NCBI Gene: 23894
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:100596726-100629087 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 13, 53.21 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    998 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1345669
protein coding gene Chr13:100596726-100629123 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020885
protein coding gene Chr13:102381865-102414825 (-)
A/J MGP_AJ_G0020837
protein coding gene Chr13:98400569-98432720 (-)
AKR/J MGP_AKRJ_G0020812
protein coding gene Chr13:101423489-101459285 (-)
BALB/cJ MGP_BALBcJ_G0020836
protein coding gene Chr13:99130849-99163056 (-)
C3H/HeJ MGP_C3HHeJ_G0020626
protein coding gene Chr13:101127396-101169851 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021270
protein coding gene Chr13:105425312-105458042 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018841
protein coding gene Chr13:94230593-94265882 (-)
CAST/EiJ MGP_CASTEiJ_G0020145
protein coding gene Chr13:100585224-100616551 (-)
CBA/J MGP_CBAJ_G0020587
protein coding gene Chr13:109579977-109614065 (-)
DBA/2J MGP_DBA2J_G0020712
protein coding gene Chr13:98184876-98217235 (-)
FVB/NJ MGP_FVBNJ_G0020693
protein coding gene Chr13:96925509-96957822 (-)
LP/J MGP_LPJ_G0020786
protein coding gene Chr13:102403700-102435247 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020722
protein coding gene Chr13:109846807-109880800 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021310
protein coding gene Chr13:100875032-100907610 (-)
PWK/PhJ MGP_PWKPhJ_G0019898
protein coding gene Chr13:96898163-96930611 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019720
protein coding gene Chr13:97103015-97136384 (-)
WSB/EiJ MGP_WSBEiJ_G0020202
protein coding gene Chr13:101340731-101372503 (-)



Homology
more
  • Human Ortholog
    GTF2H2, general transcription factor IIH subunit 2
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GTF2H2, general transcription factor IIH subunit 2
  • Synonyms
    BTF2, BTF2 p44, BTF2P44, p44, T-BTF2P44, TFIIH
  • Links
    NCBI Gene ID: 2966
    neXtProt AC: NX_Q13888
    UniProt: Q13888

  • Chr Location
    5q13.2; chr5:71035016-71067689 (-)  GRCh38

  • Human Ortholog
    GTF2H2C, GTF2H2 family member C
  • Synonyms
    GTF2H2C_2
  • Links
    NCBI Gene ID: 728340
    neXtProt AC: NX_Q6P1K8
    UniProt: Q6P1K8

  • Chr Location
    5q13.2

  • Human Ortholog
    GTF2H2C_2, GTF2H2 family member C, copy 2
  • Synonyms
    GTF2H2D
  • Links
    NCBI Gene ID: 730394
    neXtProt AC: NX_Q6P1K8
    UniProt: Q6P1K8

  • Chr Location
    5

Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    17 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.
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

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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021639 Ensembl Gene Model | MGI Sequence Detail 32362 C57BL/6J ±  kb
transcript ENSMUST00000145266 Ensembl | MGI Sequence Detail 1630 Not Applicable  
polypeptide ENSMUSP00000138108 Ensembl | MGI Sequence Detail 398 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 27
    Genomic 11
    cDNA 14
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 50
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 4
    Phenotypes 17
  • Earliest
    J:57491 von Deimling F, et al., Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. Hum Genet. 1999 Jul-Aug;105(1-2):17-27
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory