Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GTF2H2C Gene

Aliases for GTF2H2C Gene

  • GTF2H2 Family Member C 2 3 5
  • General Transcription Factor IIH Polypeptide 2-Like Protein 3 4
  • General Transcription Factor IIH, Polypeptide 2C 2 3
  • General Transcription Factor IIH Subunit 2-Like Protein 3
  • GTF2H2C GTF2H2C_2 4
  • GTF2H2C_2 3
  • GTF2H2D 4

External Ids for GTF2H2C Gene

Previous GeneCards Identifiers for GTF2H2C Gene

  • GC05P068897
  • GC05P068762
  • GC05P068856

Summaries for GTF2H2C Gene

GeneCards Summary for GTF2H2C Gene

GTF2H2C (GTF2H2 Family Member C) is a Protein Coding gene. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is GTF2H2.

UniProtKB/Swiss-Prot for GTF2H2C Gene

  • Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2H2C Gene

Genomics for GTF2H2C Gene

Regulatory Elements for GTF2H2C Gene

Enhancers for GTF2H2C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GTF2H2C on UCSC Golden Path with GeneCards custom track

Promoters for GTF2H2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTF2H2C on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2H2C Gene

Chromosome:
5
Start:
69,560,143 bp from pter
End:
69,594,723 bp from pter
Size:
34,581 bases
Orientation:
Plus strand

Genomic View for GTF2H2C Gene

Genes around GTF2H2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2H2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2H2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2H2C Gene

Proteins for GTF2H2C Gene

  • Protein details for GTF2H2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1K8-T2H2L_HUMAN
    Recommended name:
    General transcription factor IIH subunit 2-like protein
    Protein Accession:
    Q6P1K8
    Secondary Accessions:
    • A6NED9
    • A8K8J6
    • B2RCU4
    • B7ZW39

    Protein attributes for GTF2H2C Gene

    Size:
    395 amino acids
    Molecular mass:
    44452 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GTF2H2C Gene

Post-translational modifications for GTF2H2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GTF2H2C Gene

Domains & Families for GTF2H2C Gene

Protein Domains for GTF2H2C Gene

Suggested Antigen Peptide Sequences for GTF2H2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P1K8

UniProtKB/Swiss-Prot:

T2H2L_HUMAN :
  • Contains 1 VWFA domain.
  • Belongs to the GTF2H2 family.
Domain:
  • Contains 1 VWFA domain.
Family:
  • Belongs to the GTF2H2 family.
genes like me logo Genes that share domains with GTF2H2C: view

No data available for Gene Families for GTF2H2C Gene

Function for GTF2H2C Gene

Molecular function for GTF2H2C Gene

GENATLAS Biochemistry:
general (basal) transcription factor IIH,p44 subunit in the SMN centromeric cluster
UniProtKB/Swiss-Prot Function:
Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.

Gene Ontology (GO) - Molecular Function for GTF2H2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with GTF2H2C: view
genes like me logo Genes that share phenotypes with GTF2H2C: view

Animal Model Products

CRISPR Products

miRNA for GTF2H2C Gene

miRTarBase miRNAs that target GTF2H2C

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2H2C Gene

Localization for GTF2H2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2H2C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTF2H2C Gene COMPARTMENTS Subcellular localization image for GTF2H2C gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for GTF2H2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
genes like me logo Genes that share ontologies with GTF2H2C: view

Pathways & Interactions for GTF2H2C Gene

SuperPathways for GTF2H2C Gene

Superpath Contained pathways
1 Formation of the HIV-1 Early Elongation Complex
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 Infectious disease
.48
genes like me logo Genes that share pathways with GTF2H2C: view

Pathways by source for GTF2H2C Gene

Gene Ontology (GO) - Biological Process for GTF2H2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006289 nucleotide-excision repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with GTF2H2C: view

No data available for SIGNOR curated interactions for GTF2H2C Gene

Drugs & Compounds for GTF2H2C Gene

No Compound Related Data Available

Transcripts for GTF2H2C Gene

mRNA/cDNA for GTF2H2C Gene

(7) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GTF2H2C Gene

General transcription factor IIH, polypeptide 2C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2H2C Gene

No ASD Table

Relevant External Links for GTF2H2C Gene

GeneLoc Exon Structure for
GTF2H2C
ECgene alternative splicing isoforms for
GTF2H2C

Expression for GTF2H2C Gene

mRNA expression in normal human tissues for GTF2H2C Gene

Protein differential expression in normal tissues from HIPED for GTF2H2C Gene

This gene is overexpressed in Lung (26.6), Breast (22.3), and Liver (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GTF2H2C Gene



Protein tissue co-expression partners for GTF2H2C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2H2C Gene:

GTF2H2C

SOURCE GeneReport for Unigene cluster for GTF2H2C Gene:

Hs.191356
genes like me logo Genes that share expression patterns with GTF2H2C: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GTF2H2C Gene

Orthologs for GTF2H2C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GTF2H2C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GTF2H2 35
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
ManyToMany
-- 35
  • 94 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gtf2h2 35
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia GTF2H2 35
  • 99 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 81 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gtf2h2 35
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ssl1 35
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T16H12.4 35
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for GTF2H2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GTF2H2C Gene

ENSEMBL:
Gene Tree for GTF2H2C (if available)
TreeFam:
Gene Tree for GTF2H2C (if available)

Paralogs for GTF2H2C Gene

Paralogs for GTF2H2C Gene

(2) SIMAP similar genes for GTF2H2C Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for GTF2H2C Gene

genes like me logo Genes that share paralogs with GTF2H2C: view

Variants for GTF2H2C Gene

Sequence variations from dbSNP and Humsavar for GTF2H2C Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs5012305 -- 69,584,902(+) agatt(C/G)tgcca intron-variant
rs473480 -- 69,584,939(-) gacgg(A/C)ttctc intron-variant
rs483294 -- 69,585,000(+) TAATT(G/T)AGTTA intron-variant
rs2561155 -- 69,573,382(-) acatg(A/G)tgaaa intron-variant
rs2568327 -- 69,561,701(-) GCACT(A/C)CAGAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GTF2H2C 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
dgv9833n54 CNV loss 21841781
dgv9834n54 CNV gain 21841781
dgv9837n54 CNV loss 21841781
dgv9838n54 CNV loss 21841781
dgv9839n54 CNV loss 21841781
dgv9840n54 CNV loss 21841781
dgv9845n54 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
esv1009388 CNV gain 20482838
esv1011240 CNV gain 20482838
esv22113 CNV gain+loss 19812545
esv2669461 CNV deletion 23128226
esv2673843 CNV deletion 23128226
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv32846 CNV loss 17666407
esv3570183 CNV loss 25503493
esv3584530 CNV gain 24956385
esv3605385 CNV loss 21293372
esv3890644 CNV gain+loss 25118596
esv3890648 CNV loss 25118596
esv3890652 CNV loss 25118596
esv3890654 CNV loss 25118596
esv3894207 CNV loss 25118596
nsv1023116 CNV gain 25217958
nsv1033366 CNV gain 25217958
nsv1034024 CNV gain 25217958
nsv10707 CNV gain+loss 18304495
nsv1074306 CNV deletion 25765185
nsv1074837 CNV deletion 25765185
nsv1122110 CNV deletion 24896259
nsv1133602 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv433373 CNV gain 18776910
nsv471498 CNV gain 19718026
nsv511107 OTHER complex 20534489
nsv511290 CNV gain 21212237
nsv515025 CNV gain 21397061
nsv598430 CNV gain 21841781
nsv598439 CNV gain+loss 21841781
nsv598447 CNV loss 21841781
nsv598448 CNV loss 21841781
nsv598454 CNV loss 21841781
nsv598456 CNV loss 21841781
nsv598457 CNV loss 21841781
nsv598458 CNV loss 21841781
nsv598459 CNV loss 21841781
nsv598460 CNV gain 21841781
nsv598462 CNV gain 21841781
nsv598533 CNV loss 21841781
nsv598536 CNV gain 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
nsv950086 CNV deletion 24416366
nsv968189 CNV duplication 23825009
nsv980677 CNV duplication 23825009

Variation tolerance for GTF2H2C Gene

Gene Damage Index Score: 0.95; 19.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2H2C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2H2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2H2C Gene

Disorders for GTF2H2C Gene

Relevant External Links for GTF2H2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTF2H2C

No disorders were found for GTF2H2C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GTF2H2C Gene

Publications for GTF2H2C Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 65
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 65
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 65
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 65
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 65

Products for GTF2H2C Gene

Sources for GTF2H2C Gene

Content