Gene GTF2H2 - ENSG00000145736 | NCBI Gene ID: 2966

Details for: GTF2H2

Gene ID: 2966

Symbol: GTF2H2

Ensembl ID: ENSG00000145736

Description: general transcription factor IIH subunit 2

Associated with

Disease
(R-HSA-1643685)
Dna repair
(R-HSA-73894)
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)
Core tfiih complex portion of holo tfiih complex
(GO:0000438)
G protein-coupled receptor internalization
(GO:0002031)
Nuclear speck
(GO:0016607)
Nucleoplasm
(GO:0005654)
Nucleotide-excision repair
(GO:0006289)
Nucleus
(GO:0005634)
Positive regulation of dna helicase activity
(GO:1905776)
Protein binding
(GO:0005515)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Response to uv
(GO:0009411)
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)
Transcription initiation at rna polymerase ii promoter
(GO:0006367)
Zinc ion binding
(GO:0008270)

Cells (max top 100)

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

Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 1.88
Marker Score: 24966
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 1.64
Marker Score: 1311
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.17
Marker Score: 10013
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.13
Marker Score: 10709
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.12
Marker Score: 1735
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.1
Marker Score: 67372
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.02
Marker Score: 9583
Cell Name: enteric neuron (CL0007011)
Fold Change: 1.01
Marker Score: 540
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71734
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47958
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30398
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.96
Marker Score: 35441
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2402
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 0.94
Marker Score: 626
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.93
Marker Score: 478
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.93
Marker Score: 827
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.92
Marker Score: 3633
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.92
Marker Score: 434
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2711
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.9
Marker Score: 1897.5
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.89
Marker Score: 430
Cell Name: neural crest cell (CL0011012)
Fold Change: 0.88
Marker Score: 936
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.87
Marker Score: 2058
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5295
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.86
Marker Score: 4913.5
Cell Name: proerythroblast (CL0000547)
Fold Change: 0.86
Marker Score: 580
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.85
Marker Score: 306
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.85
Marker Score: 1772
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.84
Marker Score: 1365
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.84
Marker Score: 1201
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 0.82
Marker Score: 2003.5
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.78
Marker Score: 15605
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.78
Marker Score: 1329
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.78
Marker Score: 29690
Cell Name: endocardial cell (CL0002350)
Fold Change: 0.78
Marker Score: 440
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.78
Marker Score: 970
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.77
Marker Score: 2969
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.76
Marker Score: 1262
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.76
Marker Score: 1541
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.76
Marker Score: 16153
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.75
Marker Score: 436
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.74
Marker Score: 295
Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 0.73
Marker Score: 691
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.73
Marker Score: 560
Cell Name: male germ cell (CL0000015)
Fold Change: 0.73
Marker Score: 211
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.72
Marker Score: 751
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.72
Marker Score: 2992
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.72
Marker Score: 372
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.72
Marker Score: 8087
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.71
Marker Score: 2964.5
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.7
Marker Score: 9223
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.7
Marker Score: 24172
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.7
Marker Score: 5343
Cell Name: brush cell (CL0002204)
Fold Change: 0.69
Marker Score: 629
Cell Name: follicular B cell (CL0000843)
Fold Change: 0.69
Marker Score: 744
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 0.68
Marker Score: 989
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.68
Marker Score: 10142
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.67
Marker Score: 426
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.66
Marker Score: 169
Cell Name: mature microglial cell (CL0002629)
Fold Change: 0.66
Marker Score: 237
Cell Name: mature B cell (CL0000785)
Fold Change: 0.65
Marker Score: 474
Cell Name: osteoblast (CL0000062)
Fold Change: 0.64
Marker Score: 344
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.64
Marker Score: 6472
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.63
Marker Score: 897
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.63
Marker Score: 638
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.63
Marker Score: 973
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.63
Marker Score: 1692
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 0.63
Marker Score: 708
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.63
Marker Score: 663
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.62
Marker Score: 665
Cell Name: kidney cell (CL1000497)
Fold Change: 0.61
Marker Score: 410
Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.61
Marker Score: 220
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.61
Marker Score: 383
Cell Name: B-1 B cell (CL0000819)
Fold Change: 0.6
Marker Score: 1045
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 0.6
Marker Score: 333
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 0.59
Marker Score: 198
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.58
Marker Score: 384
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 0.58
Marker Score: 1033
Cell Name: large pre-B-II cell (CL0000957)
Fold Change: 0.58
Marker Score: 1578
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.58
Marker Score: 587
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.57
Marker Score: 316
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.57
Marker Score: 690
Cell Name: pro-T cell (CL0000827)
Fold Change: 0.57
Marker Score: 2333
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.57
Marker Score: 655
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 0.57
Marker Score: 534
Cell Name: preosteoblast (CL0007010)
Fold Change: 0.56
Marker Score: 160
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.56
Marker Score: 12615
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 0.56
Marker Score: 131
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.56
Marker Score: 1976
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 0.55
Marker Score: 950
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 0.55
Marker Score: 289
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.55
Marker Score: 533
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.55
Marker Score: 691
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.55
Marker Score: 2121
Cell Name: inhibitory motor neuron (CL0008015)
Fold Change: 0.55
Marker Score: 259
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.54
Marker Score: 358
Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
Fold Change: 0.54
Marker Score: 162
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.53
Marker Score: 424
Cell Name: cardiac neuron (CL0010022)
Fold Change: 0.53
Marker Score: 660
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.53
Marker Score: 351

Hover over a box to see details here...

**Key characteristics:** - GTF2H2 is a nuclear protein that is found in the nucleus of eukaryotic cells. - It is a key regulator of gene expression, and its expression is regulated by a variety of factors, including growth factors, cytokines, and other signaling molecules. - GTF2H2 is a key regulator of the development of the cardiovascular system, and its expression is upregulated in heart failure. **Pathways and functions:** - GTF2H2 is involved in a variety of cellular processes, including cell cycle regulation, differentiation, and apoptosis. - It is a key regulator of the development of the cardiovascular system, and its expression is upregulated in heart failure. - GTF2H2 is also involved in the regulation of inflammation, and its expression is upregulated in inflammatory diseases. **Clinical significance:** - Mutations in GTF2H2 have been linked to a number of human diseases, including heart failure, cancer, and neurodegenerative diseases. - GTF2H2 is a potential target for therapeutic intervention in these diseases, and its inhibition has been shown to be effective in slowing the progression of the disease. **Additional information:** - GTF2H2 is a highly conserved protein, and its sequence is similar to sequences in other members of the GTF2H family. - GTF2H2 is a relatively new protein, and its function is still being elucidated. - It is a promising target for the development of new therapies for a variety of diseases.

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 2

Genular Protein ID: 3409341237

Symbol: TF2H2_HUMAN

Name: General transcription factor IIH subunit 2

UniProtKB Accession Codes:

Q13888 Q15570 Q15571 Q9BS41

Database IDs:

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: 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: 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. For the full schema, download it here.

Details for: GTF2H2

Associated with

Cells (max top 100)

Other Information

p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. PubMed ID: 8194529

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

A provisional transcript map of the spinal muscular atrophy (SMA) critical region. PubMed ID: 7552146

Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. PubMed ID: 9503025

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

A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH. PubMed ID: 11319235

Varicella-zoster virus IE63 protein represses the basal transcription machinery by disorganizing the pre-initiation complex. PubMed ID: 15843171

Initial characterization of the human central proteome. PubMed ID: 21269460

Near-atomic resolution visualization of human transcription promoter opening. PubMed ID: 27193682

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. PubMed ID: 9063743