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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 Nucleotide excision repair and RNA Polymerase II Transcription Initiation And Promoter Clearance. 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.

Additional gene information for GTF2H2C Gene

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

Genomics for GTF2H2C Gene

GeneHancer (GH) Regulatory Elements for GTF2H2C Gene

Promoters and enhancers for GTF2H2C 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
GH05I069559 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 170 1.6 ATF1 SIN3A ZNF2 POLR2B E2F8 ELK1 ZNF207 ZNF143 ATF7 SP3 GTF2H2C GUSBP3 ENSG00000248477
GH05I069516 Enhancer 1.4 Ensembl ENCODE dbSUPER 35.5 -40.8 -40848 5.9 PKNOX1 FOXA2 ARNT NEUROD1 FEZF1 ZNF2 ZNF213 ZNF302 FOS KLF13 GTF2H2C ENSG00000198237 ENSG00000254701 GUSBP3 ENSG00000253333 CDH12P2 SLC30A5 RAD17 SMA4 OCLN
GH05I069166 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.1 -392.7 -392730 2.7 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CCNB1 CCDC125 GTF2H2C RAD17 PIR41528
GH05I069233 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.3 -325.2 -325227 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B CDK7 CCDC125 SLC30A5 GTF2H2C ENSG00000198237 ENSG00000254701 CENPH CCNB1 SNORA50D SMN2
GH05I069330 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 -227.6 -227629 3.4 HDGF SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 CCDC125 CHCHD2P2 GC05P069334 ENSG00000198237 ENSG00000254701 GTF2H2C SLC30A5 SMA4 AK6 CDK7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GTF2H2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2H2C gene promoter:

Genomic Locations for GTF2H2C Gene

Genomic Locations for GTF2H2C Gene
chr5:69,560,143-69,594,723
(GRCh38/hg38)
Size:
34,581 bases
Orientation:
Plus strand
chr5:68,856,035-68,890,550
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for GTF2H2C Gene

Domains & Families for GTF2H2C Gene

Gene Families for GTF2H2C Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the GTF2H2 family.
Family:
  • Belongs to the GTF2H2 family.
genes like me logo Genes that share domains with GTF2H2C: view

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:0003676 nucleic acid binding IBA --
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0046872 metal 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 GTF2H2C gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTF2H2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005634 nucleus IEA --
GO:0005675 holo TFIIH complex IBA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with GTF2H2C: view

Pathways & Interactions for GTF2H2C Gene

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

Pathways by source for GTF2H2C Gene

1 BioSystems pathway for GTF2H2C Gene

Gene Ontology (GO) - Biological Process for GTF2H2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006289 nucleotide-excision repair IBA,IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for GTF2H2C Gene

  • Liver(4.2)
  • Skin(4.2)
  • Stomach(4.2)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GTF2H2 34
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GTF2H2 34
  • 97 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gtf2h2 34
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 94 (a)
ManyToMany
-- 34
  • 88 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 87 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gtf2h2 34
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ssl1 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T16H12.4 34
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000064786 -- 69,568,163(+) T/C coding_sequence_variant, missense_variant
rs1001071174 -- 69,564,610(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001081306 -- 69,564,108(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001372131 -- 69,559,032(+) C/G upstream_transcript_variant
rs1002312144 -- 69,565,234(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  2. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  3. Identification of Novel Nuclear Factor of Activated T Cell (NFAT)-associated Proteins in T Cells. (PMID: 27637333) Gabriel CH … Baumgrass R (The Journal of biological chemistry 2016) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for GTF2H2C Gene

Sources for GTF2H2C Gene

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