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    Gtf2h2 general transcription factor II H, polypeptide 2 [ Mus musculus (house mouse) ]

    Gene ID: 23894, updated on 4-May-2024

    Summary

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    Official Symbol
    Gtf2h2provided by MGI
    Official Full Name
    general transcription factor II H, polypeptide 2provided by MGI
    Primary source
    MGI:MGI:1345669
    See related
    Ensembl:ENSMUSG00000021639 AllianceGenome:MGI:1345669
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p44; 44kDa; Btf2p44; BTF2 p44; BTF2-p44
    Summary
    Predicted to enable RNA polymerase II general transcription initiation factor activity and protein N-terminus binding activity. Predicted to be involved in nucleotide-excision repair and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within DNA repair. Predicted to be located in nuclear speck. Predicted to be part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; integumental system; and nervous system. Orthologous to several human genes including GTF2H2C (GTF2H2 family member C). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 10.7), limb E14.5 (RPKM 9.8) and 28 other tissues See more
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    Genomic context

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    See Gtf2h2 in Genome Data Viewer
    Location:
    13 D1; 13 53.21 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (100596726..100629123, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (100460218..100492609, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 38 pseudogene Neighboring gene ribosomal protein L31, pseudogene 13 Neighboring gene NLR family, apoptosis inhibitory protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E1467 Neighboring gene occludin Neighboring gene predicted gene, 57598 Neighboring gene eukaryotic translation initiation factor 4, gamma 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Structural characterization of the cysteine-rich domain of TFIIH p44 subunit. Fribourg S, et al. J Biol Chem, 2000 Oct 13. PMID 10882739
    2. TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus. Le May N, et al. Cell, 2004 Feb 20. PMID 14980221
    3. Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. von Deimling F, et al. Hum Genet, 1999 Jul-Aug. PMID 10480350
    4. Genomic sequence analysis of the mouse Naip gene array. Endrizzi MG, et al. Genome Res, 2000 Aug. PMID 10958627, Free PMC Article
    5. Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. Growney JD, et al. Genomics, 2000 Feb 15. PMID 10708519

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II general transcription initiation factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    part_of core TFIIH complex portion of holo TFIIH complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription factor TFIID complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription factor TFIIH core complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFIIH holo complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    general transcription factor IIH subunit 2
    Names
    TFIIH basal transcription factor complex p44 subunit
    basal transcription factor 2, p44 subunit
    basic transcription factor 2 44 kDa subunit
    general transcription factor II H, polypeptide 2 (44 kDa subunit)
    general transcription factor IIH, polypeptide 2 (44 kDa subunit)

    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_001360706.1 → NP_001347635.1  general transcription factor IIH subunit 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC158536
      UniProtKB/TrEMBL
      Q7TPV0
      Conserved Domains (2) summary
      cl06838
      Location:289 → 389
      C1_4; TFIIH C1-like domain
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like

    2. NM_022011.4 → NP_071294.3  general transcription factor IIH subunit 2 isoform 1

      See identical proteins and their annotated locations for NP_071294.3

      Status: VALIDATED

      Source sequence(s)
      BC053382, BY277671, BY480509, DV662169
      Consensus CDS
      CCDS26730.1
      UniProtKB/Swiss-Prot
      Q9JIB4
      UniProtKB/TrEMBL
      Q7TPV0
      Related
      ENSMUSP00000065228.8, ENSMUST00000066984.14
      Conserved Domains (2) summary
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like
      cl06838
      Location:289 → 389
      C1_4; TFIIH C1-like domain

    RNA

    1. NR_153794.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC158536
      Related
      ENSMUST00000145266.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      100596726..100629123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517662.3 → XP_006517725.1  general transcription factor IIH subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_006517725.1

      UniProtKB/TrEMBL
      Q7TPV0
      Conserved Domains (2) summary
      cl06838
      Location:289 → 389
      C1_4; TFIIH C1-like domain
      pfam04056
      Location:64 → 255
      Ssl1; Ssl1-like

    RNA

    1. XR_873756.4 RNA Sequence

    2. XR_873759.4 RNA Sequence

    3. XR_004938028.1 RNA Sequence

    4. XR_004938029.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JIB4.1 GenPept UniProtKB/Swiss-Prot:Q9JIB4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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