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    GTF2H2 general transcription factor IIH subunit 2 [ Homo sapiens (human) ]

    Gene ID: 2966, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GTF2H2provided by HGNC
    Official Full Name
    general transcription factor IIH subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:4656
    See related
    Ensembl:ENSG00000145736 MIM:601748; AllianceGenome:HGNC:4656
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p44; BTF2; TFIIH; BTF2P44; BTF2 p44; T-BTF2P44
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 16.9), testis (RPKM 15.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GTF2H2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71035347..71067676, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71492061..71524378, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70331174..70363503, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70227603-70228594 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70228664-70229392 Neighboring gene survival motor neuron- antisense 1 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70260097-70260788 Neighboring gene uncharacterized LOC112267942 Neighboring gene NLR family apoptosis inhibitory protein Neighboring gene NAIP promoter region Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70362331-70362930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:70380837-70381338 Neighboring gene OCLN pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 13B-2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70393075-70393946 Neighboring gene NAIP pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The multiple roles of transcription/repair factor TFIIH. Svejstrup JQ, et al. Trends Biochem Sci, 1996 Sep. PMID 8870499
    2. A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH. Tremeau-Bravard A, et al. J Biol Chem, 2001 Jul 20. PMID 11319235
    3. A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Carter TA, et al. Hum Mol Genet, 1997 Feb. PMID 9063743
    4. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Bürglen L, et al. Am J Hum Genet, 1997 Jan. PMID 8981949, Free PMC Article
    5. Impairment of alveolar macrophage transcription in idiopathic pulmonary fibrosis. Ren P, et al. Am J Respir Crit Care Med, 2007 Jun 1. PMID 17332483, Free PMC Article

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosome-derived GTF2H2 from Huh7 cells can inhibit endothelial cell viability, migration, tube formation, and permeability.
      Title: Exosome-derived GTF2H2 from Huh7 cells can inhibit endothelial cell viability, migration, tube formation, and permeability.
    2. The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.
      Title: The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.
    3. interface variants between the p34 and p44 subunits only mildly affected the association between the full length proteins and did not impinge on TFIIH activities due to the presence of an additional interface involving the C4 domain of p34.
      Title: The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.
    4. Advanced oxidation protein products down-regulate the expression of calcium transport channels through p44/42 MAPK signaling mechanisms in the small intestinal epithelium.
      Title: Advanced oxidation protein products decrease the expression of calcium transport channels in small intestinal epithelium via the p44/42 MAPK signaling pathway.
    5. Together, these results suggest that p44/WDR77 expression causes the non-sensitivity of proliferating cells to TGFbeta signaling, thereby contributing to cellular proliferation during lung tumorigenesis.
      Title: P44/WDR77 restricts the sensitivity of proliferating cells to TGFβ signaling.
    6. No correlation was found for p44 and occludin gene copy number and spinal muscular atrophy
      Title: Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
    7. miR-27a was identified as a key regulator of p44 mRNA. Moreover, miR-27a was shown to destabilize the p44 subunit of the TFIIH complex during the G2-M phase, thereby modulating the transcriptional shutdown observed during this transition.
      Title: MicroRNA-27a regulates basal transcription by targeting the p44 subunit of general transcription factor IIH.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
    9. p52 Mediates XPB function within the transcription/repair factor
      Title: p52 Mediates XPB function within the transcription/repair factor TFIIH.
    10. p44 of TFIIH has a role in binding to the nonstructural protein of Rift Valley fever virus to form nuclear filamentous structures
      Title: TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of general transcription factor IIH, polypeptide 2 (GTF2H2, 44kDa) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
    tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
    tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
    tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
    tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102806

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II general transcription initiation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to UV TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation at RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of core TFIIH complex portion of holo TFIIH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIIH core complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFIIH holo complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    general transcription factor IIH subunit 2
    Names
    TFIIH basal transcription factor complex p44 subunit
    basic transcription factor 2 44 kDa subunit
    general transcription factor IIH polypeptide 2
    general transcription factor IIH, polypeptide 2, 44kD subunit
    general transcription factor IIH, polypeptide 2, 44kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001364567.2 → NP_001351496.1  general transcription factor IIH subunit 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    2. NM_001364568.3 → NP_001351497.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    3. NM_001364569.2 → NP_001351498.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    4. NM_001364570.2 → NP_001351499.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    5. NM_001364571.2 → NP_001351500.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    6. NM_001364572.3 → NP_001351501.1  general transcription factor IIH subunit 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      pfam04056
      Location:7 → 179
      Ssl1; Ssl1-like
      cl06838
      Location:231 → 289
      C1_4; TFIIH C1-like domain

    7. NM_001364573.3 → NP_001351502.1  general transcription factor IIH subunit 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      cd01453
      Location:1 → 180
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:232 → 290
      C1_4; TFIIH C1-like domain

    8. NM_001395387.1 → NP_001382316.1  general transcription factor IIH subunit 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    9. NM_001395388.1 → NP_001382317.1  general transcription factor IIH subunit 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Related
      ENSP00000328901.6, ENST00000330280.11
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    10. NM_001395389.1 → NP_001382318.1  general transcription factor IIH subunit 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (1) summary
      COG5151
      Location:11 → 368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]

    11. NM_001395390.1 → NP_001382319.1  general transcription factor IIH subunit 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 345
      C1_4; TFIIH C1-like domain

    12. NM_001395391.1 → NP_001382320.1  general transcription factor IIH subunit 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    13. NM_001395392.1 → NP_001382321.1  general transcription factor IIH subunit 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    14. NM_001395393.1 → NP_001382322.1  general transcription factor IIH subunit 2 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (2) summary
      COG5151
      Location:11 → 384
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 235
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    15. NM_001395394.1 → NP_001382323.1  general transcription factor IIH subunit 2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    16. NM_001395395.1 → NP_001382324.1  general transcription factor IIH subunit 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (1) summary
      COG5151
      Location:11 → 368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]

    17. NM_001395396.1 → NP_001382325.1  general transcription factor IIH subunit 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC044797
      UniProtKB/TrEMBL
      B7ZW82
      Conserved Domains (1) summary
      COG5151
      Location:11 → 368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]

    18. NM_001395397.1 → NP_001382326.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    19. NM_001395398.1 → NP_001382327.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    20. NM_001395399.1 → NP_001382328.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...
      cl06838
      Location:288 → 346
      C1_4; TFIIH C1-like domain

    21. NM_001515.4 → NP_001506.1  general transcription factor IIH subunit 2 isoform a

      See identical proteins and their annotated locations for NP_001506.1

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS34183.1
      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82
      Related
      ENSP00000274400.5, ENST00000274400.10
      Conserved Domains (2) summary
      COG5151
      Location:11 → 385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56 → 236
      vWA_transcription_factor_IIH_type; Transcription factors IIH type: TFIIH is a multiprotein complex that is one of the five general transcription factors that binds RNA polymerase II holoenzyme. Orthologues of these genes are found in all completed eukaryotic genomes and all these proteins ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      71035347..71067676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417131.1 → XP_047273087.1  general transcription factor IIH subunit 2 isoform X2

    2. XM_047417130.1 → XP_047273086.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82

    3. XM_047417132.1 → XP_047273088.1  general transcription factor IIH subunit 2 isoform X3

      UniProtKB/TrEMBL
      B7ZW82

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      583733..634364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329950.1 → XP_054185925.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82

    2. XM_054329949.1 → XP_054185924.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82

    3. XM_054329951.1 → XP_054185926.1  general transcription factor IIH subunit 2 isoform X2

    4. XM_054329948.1 → XP_054185923.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82

    5. XM_054329953.1 → XP_054185928.1  general transcription factor IIH subunit 2 isoform X3

      UniProtKB/TrEMBL
      B7ZW82

    6. XM_054329952.1 → XP_054185927.1  general transcription factor IIH subunit 2 isoform X4

      UniProtKB/TrEMBL
      B7ZW82

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      71492061..71524378 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352472.1 → XP_054208447.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
      UniProtKB/TrEMBL
      B7ZW82

    2. XM_054352473.1 → XP_054208448.1  general transcription factor IIH subunit 2 isoform X2

    3. XM_054352474.1 → XP_054208449.1  general transcription factor IIH subunit 2 isoform X3

      UniProtKB/TrEMBL
      B7ZW82
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13888.1 GenPept UniProtKB/Swiss-Prot:Q13888

    Gene LinkOut

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