Description: Homo sapiens general transcription factor IIH, polypeptide 2, 44kDa (GTF2H2), mRNA. RefSeq Summary (NM_001515): This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr5:70,330,951-70,363,497 Size: 32,547 Total Exon Count: 16 Strand: - Coding Region Position: hg19 chr5:70,331,504-70,358,590 Size: 27,087 Coding Exon Count: 15
ID:TF2H2_HUMAN DESCRIPTION: RecName: Full=General transcription factor IIH subunit 2; AltName: Full=Basic transcription factor 2 44 kDa subunit; Short=BTF2 p44; AltName: Full=General transcription factor IIH polypeptide 2; AltName: Full=TFIIH basal transcription factor complex p44 subunit; 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. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter. SUBUNIT: One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with XPB, XPD, GTF2H1 and GTF2H3. Interacts with varicella-zoster virus IE63 protein. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed, with higher expression in skeletal muscle. SIMILARITY: Belongs to the GTF2H2 family. SIMILARITY: Contains 1 VWFA domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00092 - von Willebrand factor type A domain PF04056 - Ssl1-like PF07975 - TFIIH C1-like domain PF13519 - von Willebrand factor type A domain PF13768 - von Willebrand factor type A domain
ModBase Predicted Comparative 3D Structure on Q13888
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC171919 - Homo sapiens general transcription factor IIH, polypeptide 2C, mRNA (cDNA clone MGC:198634 IMAGE:9054573), complete cds. BC171860 - Homo sapiens general transcription factor IIH, polypeptide 2D, mRNA (cDNA clone MGC:198575 IMAGE:9054514), complete cds. AF078847 - Homo sapiens basic transcription factor 2 mRNA, complete cds. JD340651 - Sequence 321675 from Patent EP1572962. JD425774 - Sequence 406798 from Patent EP1572962. JD315487 - Sequence 296511 from Patent EP1572962. AH003062 - Homo sapiens chromosome 5 BTF2p44 mRNAs, partial cds. DQ786295 - Homo sapiens clone HLS_IMAGE_712622 mRNA sequence. JD316552 - Sequence 297576 from Patent EP1572962. AF086359 - Homo sapiens full length insert cDNA clone ZD65D11. JD549336 - Sequence 530360 from Patent EP1572962. JD549164 - Sequence 530188 from Patent EP1572962. JD333629 - Sequence 314653 from Patent EP1572962. BC140303 - Synthetic construct Homo sapiens clone IMAGE:100014364, MGC:173223 general transcription factor IIH, polypeptide 2, 44kDa (GTF2H2) mRNA, encodes complete protein. BC141603 - Synthetic construct Homo sapiens clone IMAGE:100014640, MGC:175331 general transcription factor IIH, polypeptide 2, 44kDa (GTF2H2) mRNA, encodes complete protein. AB464436 - Synthetic construct DNA, clone: pF1KB9717, Homo sapiens GTF2H2 gene for General transcription factor IIH subunit 2, without stop codon, in Flexi system. Z30094 - H.sapiens BTF2p44 mRNA for basic transcription factor 44 kD subunit. AK296578 - Homo sapiens cDNA FLJ55412 complete cds, highly similar to TFIIH basal transcription factor complex p44 subunit. BC005345 - Homo sapiens general transcription factor IIH, polypeptide 2, 44kDa, mRNA (cDNA clone IMAGE:3932186), complete cds. BT006773 - Homo sapiens general transcription factor IIH, polypeptide 2, 44kDa mRNA, complete cds. KJ905768 - Synthetic construct Homo sapiens clone ccsbBroadEn_15438 GTF2H2 gene, encodes complete protein. BX537982 - Homo sapiens mRNA; cDNA DKFZp686P18101 (from clone DKFZp686P18101). JD548804 - Sequence 529828 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03022 - Basal transcription factors hsa03420 - Nucleotide excision repair
Reactome (by CSHL, EBI, and GO)
Protein Q13888 (Reactome details) participates in the following event(s):
R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-112379 Recruitment of elongation factors to form elongation complex R-HSA-112383 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167072 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-5691000 TFIIH binds GG-NER site to form a verification complex R-HSA-73946 Abortive initiation R-HSA-75856 Abortive Initiation Before Second Transition R-HSA-75891 Abortive Initiation After Second Transition R-HSA-77090 Methylation of GMP-cap by RNA Methyltransferase R-HSA-112385 Addition of nucleotides leads to transcript elongation R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation R-HSA-167468 Abortive HIV-1 Initiation After Second Transition R-HSA-167474 Abortive HIV-1 Initiation Before Second Transition R-HSA-167477 Abortive HIV-1 initiation after formation of the first phosphodiester bond R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-75873 Addition of Nucleotides 5 through 9 on the growing Transcript R-HSA-76576 Addition of nucleotides 10 and 11 on the growing transcript: Third Transition R-HSA-111264 Addition of nucleotides between position +11 and +30 R-HSA-77068 Activation of GT R-HSA-77069 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-77073 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-77077 Capping complex formation R-HSA-75864 Newly Formed Phosphodiester Bond Stabilized and PPi Released R-HSA-75866 Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP R-HSA-75949 RNA Polymerase II Promoter Opening: First Transition R-HSA-75862 Fall Back to Closed Pre-initiation Complex R-HSA-75861 NTP Binds Active Site of RNA Polymerase II R-HSA-113430 Extrusion of 5'-end of 30 nt long transcript through the pore in Pol II complex R-HSA-77071 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167117 Addition of nucleotides 10 and 11 on the growing HIV-1 transcript: Third Transition R-HSA-167136 Addition of nucleotides 5 through 9 on the growing HIV-1 transcript R-HSA-167134 Newly formed phosphodiester bond stabilized and PPi released R-HSA-167098 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167111 Extrusion of 5'-end of 30 nt long HIV-1 transcript through the pore in Pol II complex R-HSA-167130 Nucleophillic attack by 3'-hydroxyl oxygen of nascent HIV-1 transcript on the Alpha phosphate of NTP R-HSA-167133 Activation of GT R-HSA-167128 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-167115 Addition of nucleotides between position +11 and +30 on HIV-1 transcript R-HSA-167153 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-167097 HIV Promoter Opening: First Transition R-HSA-167484 Fall Back to Closed Pre-initiation Complex R-HSA-167118 NTP binds active site of RNA Polymerase II in HIV-1 open pre-initiation complex R-HSA-5689861 Recruitment of XPA and release of CAK R-HSA-6781840 ERCC6 binds stalled RNA Pol II R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes R-HSA-5696670 CHD1L is recruited to GG-NER site R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site R-HSA-6790454 SUMOylation of XPC R-HSA-5690996 ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA R-HSA-5690990 5'- incision of DNA by ERCC1:ERCC4 in GG-NER R-HSA-6790487 RNF111 ubiquitinates SUMOylated XPC R-HSA-5689317 Formation of the pre-incision complex in GG-NER R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-77078 Hydrolysis of the 5'-end of the nascent transcript by the capping enzyme R-HSA-77081 Formation of the CE:GMP intermediate complex R-HSA-77085 Dissociation of transcript with 5'-GMP from GT R-HSA-77083 Transfer of GMP from the capping enzyme GT site to 5'-end of mRNA R-HSA-6781833 ERCC8 (CSA) binds stalled RNA Pol II R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes R-HSA-5690991 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER R-HSA-6781867 ERCC8:DDB1:CUL4:RBX1 ubiquitinates ERCC6 and RNA Pol II R-HSA-6782004 Assembly of the pre-incision complex in TC-NER R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6 R-HSA-6782131 RNA Pol II backtracking in TC-NER R-HSA-6782138 ERCC5 and RPA bind TC-NER site R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-112382 Formation of RNA Pol II elongation complex R-HSA-113418 Formation of the Early Elongation Complex R-HSA-167158 Formation of the HIV-1 Early Elongation Complex R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-6781823 Formation of TC-NER Pre-Incision Complex R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-72086 mRNA Capping R-HSA-75955 RNA Polymerase II Transcription Elongation R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript R-HSA-167162 RNA Polymerase II HIV Promoter Escape R-HSA-167161 HIV Transcription Initiation R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-5696400 Dual Incision in GG-NER R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73776 RNA Polymerase II Promoter Escape R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE R-HSA-75953 RNA Polymerase II Transcription Initiation R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167172 Transcription of the HIV genome R-HSA-6782135 Dual incision in TC-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-73854 RNA Polymerase I Promoter Clearance R-HSA-73857 RNA Polymerase II Transcription R-HSA-167169 HIV Transcription Elongation R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-8953854 Metabolism of RNA R-HSA-5696398 Nucleotide Excision Repair R-HSA-73864 RNA Polymerase I Transcription R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-74160 Gene expression (Transcription) R-HSA-73894 DNA Repair R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-162587 HIV Life Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-212165 Epigenetic regulation of gene expression R-HSA-162906 HIV Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
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Common Gene Haplotype Alleles 
