GTF2H5 - general transcription factor IIH subunit 5 Gene

Homo sapiens

Also known as TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2

Gene ID: 404672 | Gene type: protein coding

About GTF2H5

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:158,168,350-158,199,344 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues.

Summary

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

GTF2H5 Products(1)

mRNA	Protein	Name
NM_207118.3	NP_997001.1	general transcription factor IIH subunit 5

GTF2H5 Protein Structure

Tfb5

0
71 a.a.

Protein Preferred Names

Protein Names

general transcription factor IIH subunit 5

TFB5 ortholog

Related Diseases

Diseases

Alias

Trichothiodystrophy 3, Photosensitive

TTD3	Trichothiodystrophy, Complementation Group A
Ttda	Photosensitive Trichothiodystrophy 3
Trichothiodystrophy Complementation Group A

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Trichothiodystrophy 1, Photosensitive

TTD1	Tay Syndrome
Trichothiodystrophy With Congenital Ichthyosis	Photosensitive Trichothiodystrophy
Ibids Syndrome	Ttdp
Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation	Ichthyosis, Congenital, With Trichothiodystrophy
Pibids Syndrome	Photosensitive Trichothiodystrophy 1
Trichothiodystrophy, Photosensitive	Sulfur-Deficient Brittle Hair Syndrome
Ttd-P	Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature
Trichothiodystrophy Photosensitive	Trichothiodystrophy, Type 1
Tricho-Thiodystrophy Disorder	Trichothiodystrophy Syndromes
Amish Brittle Hair Brain Syndrome

Rectosigmoid Junction Neoplasm

Neoplasm Of Rectosigmoid Junction	Rectosigmoid Neoplasm
Rectosigmoid Tumor	Rectosigmoid Carcinoma
Carcinoma Of The Rectosigmoid Junction	Malignant Tumor Of Rectosigmoid Junction
Rectosigmoid Junction Cancer	Primary Malignant Neoplasm Of Rectosigmoid Junction
Rectosigmoid Colon Cancer	Carcinoma Of Rectum With Sigmoid
Colorectal Cancer Nos	Colorectal Carcinoma Nos
Rectosigmoid Cancer

Sigmoid Neoplasm

Sigmoid Neoplasms	Neoplasm Of Sigmoid Colon
Tumor Of Sigmoid Colon

Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B	Xeroderma Pigmentosum, Group B
XPB	Xpbc
Xp Group B	Xp, Group B
Xeroderma Pigmentosum Complementation Group B	XP-B
Xeroderma Pigmentosum Group B With Cockayne Syndrome	Xeroderma Pigmentosum Ii
Xp2	Xp-B/Cs

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome	Cofs Syndrome
Pena-Shokeir Syndrome Type 2	Pena Shokeir Syndrome Type 2

Uv-Sensitive Syndrome

Uvss	Uv Sensitive Syndrome
Ultraviolet Sensitive Syndrome

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D	Xpdc
Xeroderma Pigmentosum Iv	XPD
Xeroderma Pigmentosum Group D	Xeroderma Pigmentosum Viii
Xp Group D	Xp Group H
Xp4	Xp8
Xph	Xp, Group D
Xp4 Xeroderma Pigmentosum Viii, Formerly	Xp8, Formerly
Xp, Group H, Formerly	Xph, Formerly
Xeroderma Pigmentosum Complementation Group D	XP-D
Xp-D/Cs

Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome	6q25 Microdeletion Syndrome
Monosomy 6q25	Del(6)(Q25)

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G	Xeroderma Pigmentosum Vii
Xp7	XPG
Xeroderma Pigmentosum Group G	Xp Group G
Xp, Group G	Xpgc
Xeroderma Pigmentosum, Group G/Cockayne Syndrome	Xeroderma Pigmentosum, Type 7
Xeroderma Pigmentosum Complementation Group G	XP-G
Xp-G/Cs	Xeroderma Pigmentosum Group G/Cockayne Syndrome

Xeroderma Pigmentosum Group E

Xeroderma Pigmentosum, Group E	Xeroderma Pigmentosum V
Xp Group E	Xp5
Xpe	Xeroderma Pigmentosum, Complementation Group E

De Sanctis-Cacchione Syndrome

Xerodermic Idiocy	Xeroderma Pigmentosum With Neurologic Manifestation
DSC	Xerodermic Idiocy Of De Sanctis And Cacchione

Cockayne Syndrome A

Cockayne Syndrome Type 1	Cockayne Syndrome, Type A
Cockayne Syndrome Type I	CSA
Cockayne Syndrome Classic Form	Cockayne Syndrome Classical
Cockayne Syndrome Type A	Ckn1

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05902	GTF2H5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GTF2H5	RGD	RGD:1560991
Canis familiaris	GTF2H5	VGNC	VGNC:41549
Mus musculus	GTF2H5	MGD	MGI:107227
Bos taurus	GTF2H5	VGNC	VGNC:29698
Felis catus	GTF2H5	VGNC	VGNC:102435
Macaca mulatta	GTF2H5	VGNC	VGNC:73211

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