Gtf2h5 MGI Mouse Gene Detail - MGI:107227 - general transcription factor IIH, polypeptide 5

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

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

SNPs within 2kb

212 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:21157

NCBI Gene ID: 404672

neXtProt AC: NX_Q6ZYL4

UniProt: Q6ZYL4
Chr Location

6q25.3; chr6:158168350-158199344 (+) GRCh38

MGI Vertebrate Homology

Gtf2h5 stringent orthology
1 human;1 mouse;2 rat;1 zebrafish
HCOP

vertebrate homology predictions: GTF2H5
Gene Tree

Gtf2h5

Diseases

1 with human GTF2H5 associations

				Human Disease	Mouse Models
				photosensitive trichothiodystrophy 3 IDs photosensitive trichothiodystrophy 3 DOID:0111871 OMIM:616395

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

References

6 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 2 genetic backgrounds
357 phenotype references

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

25
Gene trapped

14
Radiation induced

10
Targeted

1
Genomic Mutations

10 involving Gtf2h5
Find Mice (IMSR)

13 strains or lines available

Mice homozygous for a knock-out allele exhibit complete postnatal lethality.

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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.

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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

998
Tissues

30
cDNA Data

71
Literature Summary

5

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gtf2h5

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All Sequences

43
RefSeq

6
UniProt

1
CCDS

CCDS37423.1

Ensembl

ENSMUSG00000034345 (Evidence)
NCBI Gene

66467

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
Protein Ontology

PR:000008321 general transcription factor IIH subunit 5

(term hierarchy)
InterPro Domains

IPR035935 TFB5-like superfamily

IPR009400 TFIIH subunit TTDA/Tfb5

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All nucleic 76

cDNA 72

Primer pair 3

Other 1

Microarray probesets 3

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MGD-MRK-35692, MGI:1913717, MGI:1919816

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

TSS for Gtf2h5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142455	Chr17:6130096-6130167 (+)	29 bp
Tssr142456	Chr17:6130174-6130183 (+)	76 bp
Tssr142457	Chr17:6130203-6130214 (+)	106 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24