This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the ... See more...

Aliases for GTF2H2 Gene

Aliases for GTF2H2 Gene

  • General Transcription Factor IIH Subunit 2 2 3 4 5
  • BTF2P44 2 3 4
  • General Transcription Factor IIH, Polypeptide 2, 44kDa 2 3
  • TFIIH Basal Transcription Factor Complex P44 Subunit 3 4
  • General Transcription Factor IIH Polypeptide 2 3 4
  • Basic Transcription Factor 2 44 KDa Subunit 3 4
  • T-BTF2P44 2 3
  • BTF2 P44 3 4
  • TFIIH 2 3
  • BTF2 2 3
  • P44 2 3
  • General Transcription Factor IIH, Polypeptide 2 (44kD Subunit) 2
  • General Transcription Factor IIH, Polypeptide 2, 44kD Subunit 3
  • GTF2H2 5

External Ids for GTF2H2 Gene

Previous GeneCards Identifiers for GTF2H2 Gene

  • GC05P069008
  • GC05P070422
  • GC05P068962
  • GC05M070366
  • GC05P065807
  • GC05M070330
  • GC05M071034

Summaries for GTF2H2 Gene

Entrez Gene Summary for GTF2H2 Gene

  • This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GTF2H2 Gene

GTF2H2 (General Transcription Factor IIH Subunit 2) is a Protein Coding gene. Diseases associated with GTF2H2 include Spinal Muscular Atrophy and Cockayne Syndrome. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein kinase activity. An important paralog of this gene is GTF2H2C.

UniProtKB/Swiss-Prot Summary for GTF2H2 Gene

  • Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter.

Gene Wiki entry for GTF2H2 Gene

Additional gene information for GTF2H2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2H2 Gene

Genomics for GTF2H2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GTF2H2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J071066 Promoter 0.7 EPDnew Ensembl 600.3 +41.9 41912 2.4 lnc-NAIP-6 GTF2H2 U21915-002 NAIP RF00017-4698 RF00017-4697 RF00017-4695
GH05J071287 Promoter 0.3 EPDnew 600.1 -180.6 -180637 0.1 LOC107986421 LOC105379016 lnc-GTF2H2-7 GTF2H2 BDP1
GH05J070960 Enhancer 0.2 Ensembl 7.4 +148.6 148613 0.6 GTF2H2 MN309174-539 LOC112267942 SMN1 RF00017-4693 NAIP RF00017-4695
GH05J070952 Enhancer 0.2 Ensembl 5.9 +157.0 157012 3.8 5N5C_A-002 piR-41405-027 GTF2H2 NAIPP2 MN309174-539 SMN1 RF00017-4693 NAIP RF00017-4695
GH05J071097 Enhancer 0.3 Ensembl ENCODE 0.4 +11.8 11812 1.8 LINC02197 OCLNP1 RF00017-4700 GTF2H2 NAIP RF00017-4697 RF00017-4695
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2H2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTF2H2

Top Transcription factor binding sites by QIAGEN in the GTF2H2 gene promoter:
  • Cart-1
  • Cdc5
  • HNF-4alpha1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • Sox5

Genomic Locations for GTF2H2 Gene

Genomic Locations for GTF2H2 Gene
chr5:71,032,670-71,109,113
(GRCh38/hg38)
Size:
76,444 bases
Orientation:
Minus strand
chr5:70,330,784-70,363,516
(GRCh37/hg19)
Size:
32,733 bases
Orientation:
Minus strand

Genomic View for GTF2H2 Gene

Genes around GTF2H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H2 Gene

Proteins for GTF2H2 Gene

  • Protein details for GTF2H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13888-TF2H2_HUMAN
    Recommended name:
    General transcription factor IIH subunit 2
    Protein Accession:
    Q13888
    Secondary Accessions:
    • Q15570
    • Q15571
    • Q9BS41

    Protein attributes for GTF2H2 Gene

    Size:
    395 amino acids
    Molecular mass:
    44419 Da
    Quaternary structure:
    • Component of the TFIID-containing RNA polymerase II pre-initiation complex that is composed of TBP and at least GTF2A1, GTF2A2, GTF2E1, GTF2E2, GTF2F1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2B, TCEA1, ERCC2 and ERCC3 (PubMed:27193682). Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription (PubMed:9852112, PubMed:11319235). Interacts with XPB, XPD, GTF2H1 and GTF2H3 (PubMed:11319235).
    • (Microbial infection) Interacts with varicella-zoster virus IE63 protein.

    Three dimensional structures from OCA and Proteopedia for GTF2H2 Gene

    Alternative splice isoforms for GTF2H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2H2 Gene

Post-translational modifications for GTF2H2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GTF2H2 Gene

Domains & Families for GTF2H2 Gene

Gene Families for GTF2H2 Gene

Protein Domains for GTF2H2 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Ssl1-like
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2H2 Gene

GenScript: Design optimal peptide antigens:
  • TFIIH basal transcription factor complex p44 subunit (TF2H2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13888

UniProtKB/Swiss-Prot:

TF2H2_HUMAN :
  • Belongs to the GTF2H2 family.
Family:
  • Belongs to the GTF2H2 family.
genes like me logo Genes that share domains with GTF2H2: view

Function for GTF2H2 Gene

Molecular function for GTF2H2 Gene

UniProtKB/Swiss-Prot Function:
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. The N-terminus of GTF2H2 interacts with and regulates XPD whereas an intact C-terminus is required for a successful escape of RNAP II form the promoter.

Gene Ontology (GO) - Molecular Function for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004672 protein kinase activity IDA --
GO:0005515 protein binding IPI 7664335
GO:0008094 DNA-dependent ATPase activity IDA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with GTF2H2: view
genes like me logo Genes that share phenotypes with GTF2H2: view

Animal Models for GTF2H2 Gene

MGI Knock Outs for GTF2H2:
  • Gtf2h2 Gtf2h2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GTF2H2 Gene

Localization for GTF2H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTF2H2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000438 core TFIIH complex portion of holo TFIIH complex IDA 27193682
GO:0000439 transcription factor TFIIH core complex IDA 11445587
GO:0005634 nucleus IEA,IDA 27193682
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex IDA 27193682
genes like me logo Genes that share ontologies with GTF2H2: view

Pathways & Interactions for GTF2H2 Gene

PathCards logo

SuperPathways for GTF2H2 Gene

SuperPathway Contained pathways
1 HIV Transcription Elongation
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
.91
.91
.51
.39
.33
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with GTF2H2: view

Pathways by source for GTF2H2 Gene

2 GeneGo (Thomson Reuters) pathways for GTF2H2 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
  • Transcription_P53 signaling pathway
11 Qiagen pathways for GTF2H2 Gene
  • Androgen Signaling
  • Assembly of RNA Polymerase-II Initiation Complex
  • Crosstalk Between CARM1 and ESRs
  • DNA Repair Mechanisms
  • Estrogen Pathway

SIGNOR curated interactions for GTF2H2 Gene

Activates:

Gene Ontology (GO) - Biological Process for GTF2H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0002031 G protein-coupled receptor internalization IMP 15775968
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IBA 21873635
genes like me logo Genes that share ontologies with GTF2H2: view

Drugs & Compounds for GTF2H2 Gene

(3) Drugs for GTF2H2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GTF2H2: view

Transcripts for GTF2H2 Gene

mRNA/cDNA for GTF2H2 Gene

8 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2H2

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
SP1: - -
SP2: -
SP3: -
SP4:
SP5: - -
SP6:
SP7:
SP8: -

Relevant External Links for GTF2H2 Gene

GeneLoc Exon Structure for
GTF2H2

Expression for GTF2H2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTF2H2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2H2 Gene



Protein tissue co-expression partners for GTF2H2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTF2H2

SOURCE GeneReport for Unigene cluster for GTF2H2 Gene:

Hs.607501

mRNA Expression by UniProt/SwissProt for GTF2H2 Gene:

Q13888-TF2H2_HUMAN
Tissue specificity: Widely expressed, with higher expression in skeletal muscle.

Evidence on tissue expression from TISSUES for GTF2H2 Gene

  • Nervous system(4.4)
  • Skin(4.4)
  • Blood(4.3)
genes like me logo Genes that share expression patterns with GTF2H2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2H2 Gene

Orthologs for GTF2H2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GTF2H2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GTF2H2 30 31
  • 99.24 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 97 (a)
OneToMany
GTF2H2 30
  • 91.98 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 94 (a)
ManyToMany
-- 31
  • 88 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia GTF2H2 30 31
  • 93 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Gtf2h2 30 17 31
  • 90.72 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Gtf2h2 30
  • 88.1 (n)
Chicken
(Gallus gallus)
Aves -- 31
  • 88 (a)
OneToMany
GTF2H2 30
  • 79.07 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gtf2h2 30
  • 76.02 (n)
Str.6606 30
Zebrafish
(Danio rerio)
Actinopterygii gtf2h2 30 31
  • 72.18 (n)
OneToMany
Dr.1630 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4755 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010559 30
  • 53.49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ssl1 30 31 32
  • 53.06 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_T16H12.4 30
  • 52.47 (n)
T16H12.4 31 32
  • 43 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E09615g 30
  • 51.51 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL1 30 31 33
  • 49.18 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR338C 30
  • 46.36 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GTF2H2 30
  • 49.29 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0508900 30
  • 50.99 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ssl1 30
  • 49.58 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01831 30
  • 46.09 (n)
Species where no ortholog for GTF2H2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GTF2H2 Gene

ENSEMBL:
Gene Tree for GTF2H2 (if available)
TreeFam:
Gene Tree for GTF2H2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTF2H2: view image

Paralogs for GTF2H2 Gene

Paralogs for GTF2H2 Gene

(2) SIMAP similar genes for GTF2H2 Gene using alignment to 4 proteins:

  • TF2H2_HUMAN
  • J3KQC7_HUMAN
  • R4GMS9_HUMAN
  • R4GMV2_HUMAN
genes like me logo Genes that share paralogs with GTF2H2: view

Variants for GTF2H2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTF2H2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
776590 Likely Benign: not provided 71,048,109(-) C/T SYNONYMOUS_VARIANT
rs201102513 - p.Val236Leu
rs2576895 - p.Ile151Met

Additional dbSNP identifiers (rs#s) for GTF2H2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GTF2H2 Gene

Variant ID Type Subtype PubMed ID
dgv134e203 CNV gain+loss 21179565
dgv27n14 CNV loss 18776910
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv7e224 CNV loss 25118596
dgv9838n54 CNV loss 21841781
dgv9844n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9854n54 CNV loss 21841781
dgv9857n54 CNV loss 21841781
dgv9859n54 CNV gain 21841781
dgv9860n54 CNV gain 21841781
dgv9861n54 CNV gain 21841781
dgv9862n54 CNV loss 21841781
dgv9863n54 CNV gain 21841781
dgv9864n54 CNV loss 21841781
dgv9866n54 CNV gain 21841781
dgv9867n54 CNV gain 21841781
dgv9868n54 CNV gain 21841781
dgv9870n54 CNV loss 21841781
dgv9872n54 CNV loss 21841781
esv1011240 CNV gain 20482838
esv22113 CNV gain+loss 19812545
esv2673843 CNV deletion 23128226
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv3570183 CNV loss 25503493
esv3605385 CNV loss 21293372
esv3890643 CNV loss 25118596
esv3890644 CNV gain+loss 25118596
esv3890648 CNV loss 25118596
esv3890652 CNV loss 25118596
esv3890654 CNV loss 25118596
esv3894210 CNV loss 25118596
esv999813 CNV gain 20482838
nsv1033366 CNV gain 25217958
nsv10707 CNV gain+loss 18304495
nsv1073891 CNV deletion 25765185
nsv1074306 CNV deletion 25765185
nsv1074840 CNV deletion 25765185
nsv1122110 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv433373 CNV gain 18776910
nsv471489 CNV gain 19718026
nsv508367 CNV deletion 20534489
nsv511106 OTHER inversion 20534489
nsv511107 OTHER complex 20534489
nsv511290 CNV gain 21212237
nsv515025 CNV gain 21397061
nsv598462 CNV gain 21841781
nsv598523 CNV loss 21841781
nsv598533 CNV loss 21841781
nsv598534 CNV gain 21841781
nsv598535 CNV loss 21841781
nsv598536 CNV gain 21841781
nsv598537 CNV loss 21841781
nsv598538 CNV loss 21841781
nsv598539 CNV loss 21841781
nsv598561 CNV loss 21841781
nsv598587 CNV gain+loss 21841781
nsv598620 CNV loss 21841781
nsv7371 OTHER inversion 18451855
nsv821643 CNV loss 15273396
nsv830339 CNV gain 17160897
nsv950083 CNV deletion 24416366
nsv950086 CNV deletion 24416366
nsv980670 CNV duplication 23825009
nsv980677 CNV duplication 23825009

Variation tolerance for GTF2H2 Gene

Gene Damage Index Score: 0.69; 14.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTF2H2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2H2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H2 Gene

Disorders for GTF2H2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GTF2H2 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTF2H2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GTF2H2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTF2H2 Gene

Publications for GTF2H2 Gene

  1. p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. (PMID: 8194529) Humbert S … Moncollin V (The EMBO journal 1994) 2 3 4 23
  2. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. (PMID: 19154529) Arkblad E … Darin N (Acta paediatrica (Oslo, Norway : 1992) 2009) 3 23 41
  3. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. (PMID: 9063743) Carter TA … Gilliam TC (Human molecular genetics 1997) 3 4 23
  4. Near-atomic resolution visualization of human transcription promoter opening. (PMID: 27193682) He Y … Nogales E (Nature 2016) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for GTF2H2 Gene

Sources for GTF2H2 Gene