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

    Gene ID: 2966, updated on 11-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GTF2H2 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71035347..71067676, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71492061..71524378, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001364567.2NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_001364568.3NP_001351497.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    3. NM_001364569.2NP_001351498.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    4. NM_001364570.2NP_001351499.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    5. NM_001364571.2NP_001351500.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    6. NM_001364572.3NP_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:7179
      Ssl1; Ssl1-like
      cl06838
      Location:231289
      C1_4; TFIIH C1-like domain
    7. NM_001364573.3NP_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:1180
      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:232290
      C1_4; TFIIH C1-like domain
    8. NM_001395387.1NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_001395388.1NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_001395389.1NP_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:11368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    11. NM_001395390.1NP_001382319.1  general transcription factor IIH subunit 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288345
      C1_4; TFIIH C1-like domain
    12. NM_001395391.1NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_001395392.1NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_001395393.1NP_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:11384
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56235
      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_001395394.1NP_001382323.1  general transcription factor IIH subunit 2 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    16. NM_001395395.1NP_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:11368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    17. NM_001395396.1NP_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:11368
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
    18. NM_001395397.1NP_001382326.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    19. NM_001395398.1NP_001382327.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    20. NM_001395399.1NP_001382328.1  general transcription factor IIH subunit 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Conserved Domains (2) summary
      cd01453
      Location:56236
      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:288346
      C1_4; TFIIH C1-like domain
    21. NM_001515.4NP_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:11385
      SSL1; RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair]
      cd01453
      Location:56236
      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_2023_10

    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_047417131.1XP_047273087.1  general transcription factor IIH subunit 2 isoform X2

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

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
    3. XM_047417132.1XP_047273088.1  general transcription factor IIH subunit 2 isoform X3

    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_054329950.1XP_054185925.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
    2. XM_054329949.1XP_054185924.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
    3. XM_054329951.1XP_054185926.1  general transcription factor IIH subunit 2 isoform X2

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

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
    5. XM_054329953.1XP_054185928.1  general transcription factor IIH subunit 2 isoform X3

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

    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_054352472.1XP_054208447.1  general transcription factor IIH subunit 2 isoform X1

      UniProtKB/Swiss-Prot
      Q13888, Q15570, Q15571, Q9BS41
    2. XM_054352473.1XP_054208448.1  general transcription factor IIH subunit 2 isoform X2

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