Details for: GTF2H4

Gene ID: 2968

Symbol: GTF2H4

Ensembl ID: ENSG00000213780

Description: general transcription factor IIH subunit 4

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: mucosal type mast cell (CL0000485)
    Fold Change: 14.2644
    Cell Significance Index: -5.8000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.2478
    Cell Significance Index: -5.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6435
    Cell Significance Index: 122.4700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6335
    Cell Significance Index: 38.0300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3097
    Cell Significance Index: 33.6900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2122
    Cell Significance Index: 26.1000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2107
    Cell Significance Index: 1.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1995
    Cell Significance Index: 10.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1697
    Cell Significance Index: 7.6900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1601
    Cell Significance Index: 11.0700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1565
    Cell Significance Index: 4.5100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1450
    Cell Significance Index: 29.0800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1329
    Cell Significance Index: 1.5100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1316
    Cell Significance Index: 13.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1279
    Cell Significance Index: 115.5000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1130
    Cell Significance Index: 20.3700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1089
    Cell Significance Index: 2.3600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1034
    Cell Significance Index: 2.3900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1030
    Cell Significance Index: 16.7600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0942
    Cell Significance Index: 12.0700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0804
    Cell Significance Index: 55.5900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0776
    Cell Significance Index: 1.9400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0736
    Cell Significance Index: 26.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0681
    Cell Significance Index: 2.0000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0596
    Cell Significance Index: 2.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0502
    Cell Significance Index: 1.9000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0442
    Cell Significance Index: 0.6200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0429
    Cell Significance Index: 1.2300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0228
    Cell Significance Index: 1.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0168
    Cell Significance Index: 0.5900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0156
    Cell Significance Index: 1.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0139
    Cell Significance Index: 0.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0098
    Cell Significance Index: 0.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0024
    Cell Significance Index: -1.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0028
    Cell Significance Index: -5.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0042
    Cell Significance Index: -7.6700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0049
    Cell Significance Index: -2.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0058
    Cell Significance Index: -7.8600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0060
    Cell Significance Index: -0.2600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0066
    Cell Significance Index: -0.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0081
    Cell Significance Index: -0.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0096
    Cell Significance Index: -7.0300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0096
    Cell Significance Index: -7.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0098
    Cell Significance Index: -7.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0108
    Cell Significance Index: -6.8900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0126
    Cell Significance Index: -7.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0145
    Cell Significance Index: -2.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0154
    Cell Significance Index: -6.9800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0169
    Cell Significance Index: -0.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0216
    Cell Significance Index: -0.4600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0261
    Cell Significance Index: -7.5200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0283
    Cell Significance Index: -4.8300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0344
    Cell Significance Index: -0.7200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0346
    Cell Significance Index: -2.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0354
    Cell Significance Index: -7.4600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0392
    Cell Significance Index: -2.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0395
    Cell Significance Index: -4.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0460
    Cell Significance Index: -6.6900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0487
    Cell Significance Index: -1.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0556
    Cell Significance Index: -7.1800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0571
    Cell Significance Index: -5.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0572
    Cell Significance Index: -2.9700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0611
    Cell Significance Index: -6.2500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0647
    Cell Significance Index: -3.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0659
    Cell Significance Index: -4.6600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0787
    Cell Significance Index: -2.5200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0839
    Cell Significance Index: -2.2400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0912
    Cell Significance Index: -7.2200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0917
    Cell Significance Index: -4.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0933
    Cell Significance Index: -6.9500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0933
    Cell Significance Index: -4.3500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1038
    Cell Significance Index: -2.7300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1046
    Cell Significance Index: -3.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1086
    Cell Significance Index: -5.7000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1102
    Cell Significance Index: -2.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1116
    Cell Significance Index: -3.9100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1121
    Cell Significance Index: -7.2300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1127
    Cell Significance Index: -3.6900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1157
    Cell Significance Index: -2.5000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1275
    Cell Significance Index: -3.4700
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1345
    Cell Significance Index: -1.2800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1348
    Cell Significance Index: -2.3300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1376
    Cell Significance Index: -1.9700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1399
    Cell Significance Index: -2.2200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1484
    Cell Significance Index: -3.1500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1549
    Cell Significance Index: -3.1100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1575
    Cell Significance Index: -3.9300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1621
    Cell Significance Index: -6.6400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1623
    Cell Significance Index: -3.2100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1739
    Cell Significance Index: -3.6300
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1828
    Cell Significance Index: -2.3900
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1885
    Cell Significance Index: -3.1700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1891
    Cell Significance Index: -4.8600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1979
    Cell Significance Index: -2.7000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2030
    Cell Significance Index: -4.1300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2049
    Cell Significance Index: -7.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2051
    Cell Significance Index: -3.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2062
    Cell Significance Index: -7.1700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2153
    Cell Significance Index: -5.5000

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:** GTF2H4 is a subunit of the TFIIH complex, a heterotrimeric complex composed of TFIIH, TFIIA, and TFIIB subunits. The TFIIH complex is responsible for the initiation and elongation of transcription, a process that involves the recruitment of RNA polymerase II and the unwinding of DNA. GTF2H4 is a general transcription factor that recognizes specific DNA sequences and recruits the TFIIH complex to the promoter region of target genes. **Pathways and Functions:** GTF2H4 is involved in various transcriptional pathways, including: 1. **General transcription pathway**: GTF2H4 plays a crucial role in the initiation of transcription by recognizing specific DNA sequences and recruiting the TFIIH complex to the promoter region of target genes. 2. **RNA polymerase II elongation**: GTF2H4 is involved in the elongation of transcription by RNA polymerase II, a process that involves the unwinding of DNA and the synthesis of RNA. 3. **DNA repair**: GTF2H4 is also involved in DNA repair pathways, including nucleotide excision repair (NER) and global genome nucleotide excision repair (GG-NER). 4. **Viral infection**: GTF2H4 plays a role in the regulation of viral transcription, including the elongation of HIV-1 transcripts. 5. **Epigenetic regulation**: GTF2H4 is involved in the regulation of epigenetic marks, including DNA methylation and histone modification. **Clinical Significance:** GTF2H4 has been implicated in various diseases, including: 1. **Immunodeficiency disorders**: Mutations in GTF2H4 have been linked to immunodeficiency disorders, including X-linked immunodeficiency. 2. **Cancer**: GTF2H4 has been implicated in the regulation of cancer-related genes, including those involved in DNA repair and epigenetic regulation. 3. **Neurological disorders**: GTF2H4 has been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Viral infections**: GTF2H4 plays a role in the regulation of viral transcription, including HIV-1 and other retroviruses. In conclusion, GTF2H4 is a critical component of the TFIIH complex, playing a pivotal role in the regulation of gene expression. Its involvement in various transcriptional pathways and its significance in various diseases make it an important target for research and therapeutic intervention. **Significantly expressed cells:** The significantly expressed cells for GTF2H4 include: 1. Kidney proximal convoluted tubule epithelial cell 2. Colon goblet cell 3. Erythroid progenitor cell 4. Goblet cell 5. Prostate gland microvascular endothelial cell 6. Absorptive cell 7. Tuft cell of colon 8. BEST4+ intestinal epithelial cell 9. Human 10. Intestinal crypt stem cell of colon 11. Transit amplifying cell **Proteins:** The protein associated with GTF2H4 is TF2H4_HUMAN (General transcription factor IIH subunit 4).

Genular Protein ID: 3708179640

Symbol: TF2H4_HUMAN

Name: General transcription factor IIH subunit 4

UniProtKB Accession Codes:

Q92759 B4DTJ5 Q76KU4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 17 EMDB 24 Ensembl 12 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 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 42 PDBsum 42 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 29 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9118947

Title: Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH.

PubMed ID: 9118947

DOI: 10.1093/emboj/16.5.1093

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16702430

Title: Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.

PubMed ID: 16702430

DOI: 10.1534/genetics.106.057034

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 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: 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: 17466626

Title: Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.

PubMed ID: 17466626

DOI: 10.1016/j.molcel.2007.03.009

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

Sequence Information:

  • Length: 462
  • Mass: 52186
  • Checksum: 5532DAD617CA743C
  • Sequence:
    • MESTPSRGLN RVHLQCRNLQ EFLGGLSPGV LDRLYGHPAT CLAVFRELPS LAKNWVMRML 
FLEQPLPQAA VALWVKKEFS KAQEESTGLL SGLRIWHTQL LPGGLQGLIL NPIFRQNLRI 
ALLGGGKAWS DDTSQLGPDK HARDVPSLDK YAEERWEVVL HFMVGSPSAA VSQDLAQLLS 
QAGLMKSTEP GEPPCITSAG FQFLLLDTPA QLWYFMLQYL QTAQSRGMDL VEILSFLFQL 
SFSTLGKDYS VEGMSDSLLN FLQHLREFGL VFQRKRKSRR YYPTRLAINL SSGVSGAGGT 
VHQPGFIVVE TNYRLYAYTE SELQIALIAL FSEMLYRFPN MVVAQVTRES VQQAIASGIT 
AQQIIHFLRT RAHPVMLKQT PVLPPTITDQ IRLWELERDR LRFTEGVLYN QFLSQVDFEL 
LLAHARELGV LVFENSAKRL MVVTPAGHSD VKRFWKRQKH SS

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.