Gene GTF2H4 - ENSG00000213780 | NCBI Gene ID: 2968

Details for: GTF2H4

Gene ID: 2968

Symbol: GTF2H4

Ensembl ID: ENSG00000213780

Description: general transcription factor IIH subunit 4

Associated with

Disease
(R-HSA-1643685)
Dual incision in gg-ner
(R-HSA-5696400)
Dual incision in tc-ner
(R-HSA-6782135)
Epigenetic regulation of gene expression
(R-HSA-212165)
Formation of hiv-1 elongation complex containing hiv-1 tat
(R-HSA-167200)
Formation of hiv elongation complex in the absence of hiv tat
(R-HSA-167152)
Formation of incision complex in gg-ner
(R-HSA-5696395)
Formation of rna pol ii elongation complex
(R-HSA-112382)
Formation of tc-ner pre-incision complex
(R-HSA-6781823)
Formation of the early elongation complex
(R-HSA-113418)
Formation of the hiv-1 early elongation complex
(R-HSA-167158)
Gap-filling dna repair synthesis and ligation in tc-ner
(R-HSA-6782210)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Global genome nucleotide excision repair (gg-ner)
(R-HSA-5696399)
Hiv infection
(R-HSA-162906)
Hiv life cycle
(R-HSA-162587)
Hiv transcription elongation
(R-HSA-167169)
Hiv transcription initiation
(R-HSA-167161)
Infectious disease
(R-HSA-5663205)
Late phase of hiv life cycle
(R-HSA-162599)
Metabolism of rna
(R-HSA-8953854)
Mrna capping
(R-HSA-72086)
Negative epigenetic regulation of rrna expression
(R-HSA-5250941)
Norc negatively regulates rrna expression
(R-HSA-427413)
Nucleotide excision repair
(R-HSA-5696398)
Rna pol ii ctd phosphorylation and interaction with ce
(R-HSA-77075)
Rna pol ii ctd phosphorylation and interaction with ce during hiv infection
(R-HSA-167160)
Rna polymerase ii hiv promoter escape
(R-HSA-167162)
Rna polymerase ii pre-transcription events
(R-HSA-674695)
Rna polymerase ii promoter escape
(R-HSA-73776)
Rna polymerase ii transcription
(R-HSA-73857)
Rna polymerase ii transcription elongation
(R-HSA-75955)
Rna polymerase ii transcription initiation
(R-HSA-75953)
Rna polymerase ii transcription initiation and promoter clearance
(R-HSA-76042)
Rna polymerase ii transcription pre-initiation and promoter opening
(R-HSA-73779)
Rna polymerase i promoter clearance
(R-HSA-73854)
Rna polymerase i promoter escape
(R-HSA-73772)
Rna polymerase i transcription
(R-HSA-73864)
Rna polymerase i transcription initiation
(R-HSA-73762)
Rna polymerase i transcription termination
(R-HSA-73863)
Tat-mediated elongation of the hiv-1 transcript
(R-HSA-167246)
Tp53 regulates transcription of dna repair genes
(R-HSA-6796648)
Transcription-coupled nucleotide excision repair (tc-ner)
(R-HSA-6781827)
Transcriptional regulation by tp53
(R-HSA-3700989)
Transcription of the hiv genome
(R-HSA-167172)
Viral infection pathways
(R-HSA-9824446)
Atpase activator activity
(GO:0001671)
Core tfiih complex portion of holo tfiih complex
(GO:0000438)
Dna repair
(GO:0006281)
Double-stranded dna binding
(GO:0003690)
Nuclear speck
(GO:0016607)
Nucleoplasm
(GO:0005654)
Nucleotide-excision repair
(GO:0006289)
Nucleus
(GO:0005634)
Protein binding
(GO:0005515)
Rna polymerase ii general transcription initiation factor activity
(GO:0016251)
Transcription by rna polymerase ii
(GO:0006366)
Transcription factor tfiid complex
(GO:0005669)
Transcription factor tfiih core complex
(GO:0000439)
Transcription factor tfiih holo complex
(GO:0005675)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 2.3
Marker Score: 4757
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.6
Marker Score: 1161
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 1.16
Marker Score: 1205
Cell Name: goblet cell (CL0000160)
Fold Change: 1.15
Marker Score: 7672
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 1.07
Marker Score: 415
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30408
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 501
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 454
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5314
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2737
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.91
Marker Score: 366
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 318
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.87
Marker Score: 362.5
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5283
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.86
Marker Score: 579
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1265
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 704
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.74
Marker Score: 1742
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.71
Marker Score: 2962
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.71
Marker Score: 542
Cell Name: proerythroblast (CL0000547)
Fold Change: 0.7
Marker Score: 472
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 174
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.65
Marker Score: 2736
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 0.62
Marker Score: 3024
Cell Name: IgG plasma cell (CL0000985)
Fold Change: 0.61
Marker Score: 266
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.58
Marker Score: 263
Cell Name: Unknown (CL0000548)
Fold Change: 0.56
Marker Score: 406
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.53
Marker Score: 339.5
Cell Name: erythroid progenitor cell, mammalian (CL0001066)
Fold Change: 0.52
Marker Score: 167
Cell Name: myeloid dendritic cell (CL0000782)
Fold Change: 0.49
Marker Score: 296
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 0.47
Marker Score: 168
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.46
Marker Score: 147
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 0.44
Marker Score: 129
Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
Fold Change: 0.43
Marker Score: 313
Cell Name: hematopoietic precursor cell (CL0008001)
Fold Change: 0.4
Marker Score: 141
Cell Name: tracheal goblet cell (CL1000329)
Fold Change: 0.4
Marker Score: 1137
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.39
Marker Score: 294
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 0.39
Marker Score: 391
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.35
Marker Score: 109
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.33
Marker Score: 512
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.33
Marker Score: 86
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.33
Marker Score: 511
Cell Name: endocardial cell (CL0002350)
Fold Change: 0.32
Marker Score: 179
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.31
Marker Score: 97
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.29
Marker Score: 208
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 0.29
Marker Score: 254.5
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.29
Marker Score: 231
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.28
Marker Score: 2667
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.28
Marker Score: 1786
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.28
Marker Score: 128
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.27
Marker Score: 2341
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.27
Marker Score: 16663
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.26
Marker Score: 8953
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 0.26
Marker Score: 83
Cell Name: plasmablast (CL0000980)
Fold Change: 0.25
Marker Score: 338
Cell Name: T follicular helper cell (CL0002038)
Fold Change: 0.25
Marker Score: 206
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.25
Marker Score: 227
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.24
Marker Score: 2147
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.24
Marker Score: 102
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.24
Marker Score: 131
Cell Name: erythroid lineage cell (CL0000764)
Fold Change: 0.23
Marker Score: 117
Cell Name: dendritic cell, human (CL0001056)
Fold Change: 0.23
Marker Score: 235
Cell Name: type I NK T cell (CL0000921)
Fold Change: 0.23
Marker Score: 178
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.22
Marker Score: 126
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.22
Marker Score: 147
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.22
Marker Score: 63
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.22
Marker Score: 2071
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 0.22
Marker Score: 265
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.22
Marker Score: 2888
Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.22
Marker Score: 78
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 0.22
Marker Score: 168
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.22
Marker Score: 1281
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 73
Cell Name: thymocyte (CL0000893)
Fold Change: 0.21
Marker Score: 224
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.21
Marker Score: 89
Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.21
Marker Score: 73
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 0.21
Marker Score: 69
Cell Name: mucus secreting cell (CL0000319)
Fold Change: 0.2
Marker Score: 52
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.2
Marker Score: 774
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.2
Marker Score: 250
Cell Name: IgM plasma cell (CL0000986)
Fold Change: 0.2
Marker Score: 68
Cell Name: germ cell (CL0000586)
Fold Change: 0.19
Marker Score: 334
Cell Name: regulatory T cell (CL0000815)
Fold Change: 0.19
Marker Score: 211
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 0.19
Marker Score: 533
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 0.19
Marker Score: 463
Cell Name: class switched memory B cell (CL0000972)
Fold Change: 0.19
Marker Score: 177
Cell Name: bronchial smooth muscle cell (CL0002598)
Fold Change: 0.19
Marker Score: 53
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 0.19
Marker Score: 321
Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
Fold Change: 0.19
Marker Score: 164
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.19
Marker Score: 7070
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.18
Marker Score: 49
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.18
Marker Score: 75
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.18
Marker Score: 453
Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.18
Marker Score: 104
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 0.18
Marker Score: 105
Cell Name: B-2 B cell (CL0000822)
Fold Change: 0.18
Marker Score: 216
Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
Fold Change: 0.17
Marker Score: 143
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.17
Marker Score: 1334

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**Key characteristics:** - GTF2H4 is a member of the general transcription factor IIH family of proteins. - It is a key regulator of gene expression, particularly in epithelial cells and stem cells. - It is involved in DNA repair, epigenetic regulation, and the regulation of rna expression. **Pathways and functions:** - GTF2H4 is involved in various cellular processes, including: - Disease - Dna repair - Epigenetic regulation of gene expression - Gene expression (transcription) - Transcription-coupled nucleotide excision repair - Negative epigenetic regulation of rna expression **Clinical significance:** - Mutations in GTF2H4 have been linked to several human diseases, including colorectal cancer, breast cancer, and kidney cancer. - Targeting GTF2H4 has emerged as a potential therapeutic strategy for these diseases. **Other important points:** - GTF2H4 is a highly conserved protein, with a similar gene found in mammals. - It is a multi-domain protein that interacts with various transcription factors and epigenetic modifications. - It is a key regulator of cell proliferation, differentiation, and survival.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

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:

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

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. For the full schema, download it here.

Details for: GTF2H4

Associated with

Cells (max top 100)

Other Information

Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH. PubMed ID: 9118947

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. PubMed ID: 16702430

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334