Details for: GTF2H2

Gene ID: 2966

Symbol: GTF2H2

Ensembl ID: ENSG00000145736

Description: general transcription factor IIH subunit 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 98.9423
    Cell Significance Index: -15.3900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.3246
    Cell Significance Index: -14.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 39.5236
    Cell Significance Index: -18.6600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.4732
    Cell Significance Index: -15.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.4442
    Cell Significance Index: -15.7000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.8691
    Cell Significance Index: -17.1000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.0324
    Cell Significance Index: -16.1600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9227
    Cell Significance Index: -15.1200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.4044
    Cell Significance Index: -17.3800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9425
    Cell Significance Index: 192.1600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1521
    Cell Significance Index: 125.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0794
    Cell Significance Index: 64.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0243
    Cell Significance Index: 166.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9803
    Cell Significance Index: 194.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5973
    Cell Significance Index: 41.3100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5764
    Cell Significance Index: 8.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5355
    Cell Significance Index: 107.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5103
    Cell Significance Index: 13.8900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4869
    Cell Significance Index: 27.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4432
    Cell Significance Index: 23.2700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4424
    Cell Significance Index: 28.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.4127
    Cell Significance Index: 10.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4126
    Cell Significance Index: 5.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4070
    Cell Significance Index: 21.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4010
    Cell Significance Index: 55.0700
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.3992
    Cell Significance Index: 2.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3909
    Cell Significance Index: 213.4900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3894
    Cell Significance Index: 17.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3744
    Cell Significance Index: 23.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3721
    Cell Significance Index: 67.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3618
    Cell Significance Index: 129.7700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.3201
    Cell Significance Index: 3.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2967
    Cell Significance Index: 22.1100
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2964
    Cell Significance Index: 4.1600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2888
    Cell Significance Index: 22.1600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2828
    Cell Significance Index: 5.9200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2558
    Cell Significance Index: 12.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2519
    Cell Significance Index: 30.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2481
    Cell Significance Index: 5.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2240
    Cell Significance Index: 6.2600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2222
    Cell Significance Index: 28.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2052
    Cell Significance Index: 7.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1913
    Cell Significance Index: 8.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1853
    Cell Significance Index: 8.7100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1844
    Cell Significance Index: 4.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1577
    Cell Significance Index: 4.5500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1390
    Cell Significance Index: 26.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0940
    Cell Significance Index: 11.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0789
    Cell Significance Index: 1.1700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0736
    Cell Significance Index: 8.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0687
    Cell Significance Index: 11.7300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0676
    Cell Significance Index: 29.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0547
    Cell Significance Index: 49.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0381
    Cell Significance Index: 4.9300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0367
    Cell Significance Index: 1.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0285
    Cell Significance Index: 0.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0258
    Cell Significance Index: 0.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0212
    Cell Significance Index: 0.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0200
    Cell Significance Index: 27.2100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0199
    Cell Significance Index: 30.6600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0126
    Cell Significance Index: 23.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0120
    Cell Significance Index: 22.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0102
    Cell Significance Index: 7.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0033
    Cell Significance Index: 0.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0084
    Cell Significance Index: -5.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0088
    Cell Significance Index: -6.6400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0091
    Cell Significance Index: -6.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0164
    Cell Significance Index: -7.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0204
    Cell Significance Index: -11.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0296
    Cell Significance Index: -18.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0325
    Cell Significance Index: -4.7300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0382
    Cell Significance Index: -1.0200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0464
    Cell Significance Index: -4.7400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0492
    Cell Significance Index: -1.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0750
    Cell Significance Index: -15.7900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0785
    Cell Significance Index: -9.1500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0850
    Cell Significance Index: -1.0900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0953
    Cell Significance Index: -6.7400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0977
    Cell Significance Index: -5.0900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1060
    Cell Significance Index: -4.9400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1272
    Cell Significance Index: -2.2000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1411
    Cell Significance Index: -3.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1518
    Cell Significance Index: -15.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1647
    Cell Significance Index: -10.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1776
    Cell Significance Index: -4.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1899
    Cell Significance Index: -15.0400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1950
    Cell Significance Index: -2.1200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2228
    Cell Significance Index: -3.2000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2401
    Cell Significance Index: -7.8600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2551
    Cell Significance Index: -1.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2556
    Cell Significance Index: -8.1400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2643
    Cell Significance Index: -5.6100
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.2816
    Cell Significance Index: -2.9400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2877
    Cell Significance Index: -8.4500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2884
    Cell Significance Index: -6.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2892
    Cell Significance Index: -8.2900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.2906
    Cell Significance Index: -2.3200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2923
    Cell Significance Index: -10.2400
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2974
    Cell Significance Index: -4.0100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2975
    Cell Significance Index: -3.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Multiple isoforms**: The GTF2H2 gene exists in multiple isoforms, which are generated through alternative splicing. These isoforms exhibit distinct tissue-specific expression patterns and functional properties. 2. **Widespread expression**: The GTF2H2 gene is expressed in a variety of cell types, including cardiac muscle cells, pulmonary interstitial fibroblasts, and neurons. 3. **DNA repair and transcription**: GTF2H2 is involved in DNA repair processes, including nucleotide excision repair and gap-filling DNA repair synthesis and ligation. It also plays a crucial role in transcriptional regulation, particularly in the context of transcription elongation. 4. **Immune response**: GTF2H2 is implicated in immune response pathways, including those related to viral infection and DNA damage response. **Pathways and Functions:** 1. **DNA repair**: GTF2H2 is involved in nucleotide excision repair (NER) and gap-filling DNA repair synthesis and ligation in the context of transcription elongation. 2. **Transcription elongation**: GTF2H2 is a crucial component of the general transcription factor IIH complex, which regulates transcription elongation. 3. **Transcription initiation**: GTF2H2 is involved in transcription initiation, particularly in the context of transcription elongation. 4. **Viral infection**: GTF2H2 is implicated in viral infection pathways, including those related to HIV-1 transcription elongation and Tat-mediated elongation of the HIV-1 transcript. 5. **Immune response**: GTF2H2 is involved in immune response pathways, including those related to DNA damage response and transcriptional regulation. **Clinical Significance:** 1. **Cancer**: Dysregulation of GTF2H2 has been implicated in various cancers, including breast cancer and lung cancer. 2. **Neurological disorders**: GTF2H2 has been associated with neurological disorders, including Alzheimer's disease and Parkinson's disease. 3. **Infectious diseases**: GTF2H2 is implicated in viral infection pathways, including those related to HIV-1 and other viruses. 4. **Immunodeficiency**: Dysregulation of GTF2H2 has been linked to immunodeficiency disorders, including those related to impaired DNA repair and transcriptional regulation. In conclusion, the GTF2H2 gene is a complex and multifaceted molecule that plays a critical role in various cellular processes, including DNA repair, transcriptional regulation, and immune response. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the functions and mechanisms of GTF2H2.

Genular Protein ID: 3409341237

Symbol: TF2H2_HUMAN

Name: General transcription factor IIH subunit 2

UniProtKB Accession Codes:

Q13888 Q15570 Q15571 Q9BS41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 2 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 14 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 43 PDBsum 43 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 29 RefSeq 5 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8194529

Title: p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.

PubMed ID: 8194529

DOI: 10.1002/j.1460-2075.1994.tb06523.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7552146

Title: A provisional transcript map of the spinal muscular atrophy (SMA) critical region.

PubMed ID: 7552146

DOI: 10.1159/000472281

PubMed ID: 9503025

Title: Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

PubMed ID: 9503025

DOI: 10.1006/geno.1997.5141

PubMed ID: 10024882

Title: Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.

PubMed ID: 10024882

DOI: 10.1016/s1097-2765(00)80177-x

PubMed ID: 9852112

Title: Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes.

PubMed ID: 9852112

DOI: 10.1074/jbc.273.51.34444

PubMed ID: 11319235

Title: A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH.

PubMed ID: 11319235

DOI: 10.1074/jbc.m102457200

PubMed ID: 15843171

Title: Varicella-zoster virus IE63 protein represses the basal transcription machinery by disorganizing the pre-initiation complex.

PubMed ID: 15843171

DOI: 10.1515/bc.2005.031

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 27193682

Title: Near-atomic resolution visualization of human transcription promoter opening.

PubMed ID: 27193682

DOI: 10.1038/nature17970

PubMed ID: 31253769

Title: Structural basis of TFIIH activation for nucleotide excision repair.

PubMed ID: 31253769

DOI: 10.1038/s41467-019-10745-5

PubMed ID: 33902107

Title: Structures of mammalian RNA polymerase II pre-initiation complexes.

PubMed ID: 33902107

DOI: 10.1038/s41586-021-03554-8

PubMed ID: 9063743

Title: A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

PubMed ID: 9063743

DOI: 10.1093/hmg/6.2.229

Sequence Information:

  • Length: 395
  • Mass: 44419
  • Checksum: 56D1BD8841288739
  • Sequence:
    • MDEEPERTKR WEGGYERTWE ILKEDESGSL KATIEDILFK AKRKRVFEHH GQVRLGMMRH 
LYVVVDGSRT MEDQDLKPNR LTCTLKLLEY FVEEYFDQNP ISQIGIIVTK SKRAEKLTEL 
SGNPRKHITS LKKAVDMTCH GEPSLYNSLS IAMQTLKHMP GHTSREVLII FSSLTTCDPS 
NIYDLIKTLK AAKIRVSVIG LSAEVRVCTV LARETGGTYH VILDESHYKE LLTHHVSPPP 
ASSSSECSLI RMGFPQHTIA SLSDQDAKPS FSMAHLDGNT EPGLTLGGYF CPQCRAKYCE 
LPVECKICGL TLVSAPHLAR SYHHLFPLDA FQEIPLEEYN GERFCYGCQG ELKDQHVYVC 
AVCQNVFCVD CDVFVHDSLH CCPGCIHKIP APSGV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.