LOCUS       NM_001395392            2030 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 2 (GTF2H2),
            transcript variant 12, mRNA.
ACCESSION   NM_001395392
VERSION     NM_001395392.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2030)
  AUTHORS   Li,Z., Li,Y., Ouyang,Q., Li,X. and Huang,J.
  TITLE     Exosome-derived GTF2H2 from Huh7 cells can inhibit endothelial cell
            viability, migration, tube formation, and permeability
  JOURNAL   Tissue Cell 79, 101922 (2022)
   PUBMED   36116407
  REMARK    GeneRIF: Exosome-derived GTF2H2 from Huh7 cells can inhibit
            endothelial cell viability, migration, tube formation, and
            permeability.
REFERENCE   2  (bases 1 to 2030)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2030)
  AUTHORS   Barnett,J.T., Kuper,J., Koelmel,W., Kisker,C. and Kad,N.M.
  TITLE     The TFIIH subunits p44/p62 act as a damage sensor during nucleotide
            excision repair
  JOURNAL   Nucleic Acids Res 48 (22), 12689-12696 (2020)
   PUBMED   33166411
  REMARK    GeneRIF: The TFIIH subunits p44/p62 act as a damage sensor during
            nucleotide excision repair.
REFERENCE   4  (bases 1 to 2030)
  AUTHORS   Radu,L., Schoenwetter,E., Braun,C., Marcoux,J., Koelmel,W.,
            Schmitt,D.R., Kuper,J., Cianferani,S., Egly,J.M., Poterszman,A. and
            Kisker,C.
  TITLE     The intricate network between the p34 and p44 subunits is central
            to the activity of the transcription/DNA repair factor TFIIH
  JOURNAL   Nucleic Acids Res 45 (18), 10872-10883 (2017)
   PUBMED   28977422
  REMARK    GeneRIF: 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.
REFERENCE   5  (bases 1 to 2030)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2030)
  AUTHORS   Henning,K.A., Li,L., Iyer,N., McDaniel,L.D., Reagan,M.S.,
            Legerski,R., Schultz,R.A., Stefanini,M., Lehmann,A.R., Mayne,L.V.
            and Friedberg,E.C.
  TITLE     The Cockayne syndrome group A gene encodes a WD repeat protein that
            interacts with CSB protein and a subunit of RNA polymerase II TFIIH
  JOURNAL   Cell 82 (4), 555-564 (1995)
   PUBMED   7664335
REFERENCE   7  (bases 1 to 2030)
  AUTHORS   van der Steege,G., Draaijers,T.G., Grootscholten,P.M., Osinga,J.,
            Anzevino,R., Velona,I., Den Dunnen,J.T., Scheffer,H., Brahe,C., van
            Ommen,G.J. et al.
  TITLE     A provisional transcript map of the spinal muscular atrophy (SMA)
            critical region
  JOURNAL   Eur J Hum Genet 3 (2), 87-95 (1995)
   PUBMED   7552146
REFERENCE   8  (bases 1 to 2030)
  AUTHORS   Humbert,S., van Vuuren,H., Lutz,Y., Hoeijmakers,J.H., Egly,J.M. and
            Moncollin,V.
  TITLE     p44 and p34 subunits of the BTF2/TFIIH transcription factor have
            homologies with SSL1, a yeast protein involved in DNA repair
  JOURNAL   EMBO J 13 (10), 2393-2398 (1994)
   PUBMED   8194529
REFERENCE   9  (bases 1 to 2030)
  AUTHORS   Jacob,G.A., Luse,S.W. and Luse,D.S.
  TITLE     Abortive initiation is increased only for the weakest members of a
            set of down mutants of the adenovirus 2 major late promoter
  JOURNAL   J Biol Chem 266 (33), 22537-22544 (1991)
   PUBMED   1939271
REFERENCE   10 (bases 1 to 2030)
  AUTHORS   Conaway,R.C. and Conaway,J.W.
  TITLE     ATP activates transcription initiation from promoters by RNA
            polymerase II in a reversible step prior to RNA synthesis
  JOURNAL   J Biol Chem 263 (6), 2962-2968 (1988)
   PUBMED   2449431
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC044797.5.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.206124.1,
                                           SRR18074967.2335423.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-381               AC044797.5         164282-164662       c
            382-479             AC044797.5         162111-162208       c
            480-568             AC044797.5         159694-159782       c
            569-646             AC044797.5         158674-158751       c
            647-683             AC044797.5         158258-158294       c
            684-770             AC044797.5         157830-157916       c
            771-821             AC044797.5         157106-157156       c
            822-876             AC044797.5         156676-156730       c
            877-982             AC044797.5         152338-152443       c
            983-1073            AC044797.5         146054-146144       c
            1074-1161           AC044797.5         145748-145835       c
            1162-1269           AC044797.5         144992-145099       c
            1270-1333           AC044797.5         142430-142493       c
            1334-1437           AC044797.5         139167-139270       c
            1438-1540           AC044797.5         138508-138610       c
            1541-1580           AC044797.5         134493-134532       c
            1581-2030           AC044797.5         132333-132782       c
FEATURES             Location/Qualifiers
     source          1..2030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..2030
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="general transcription factor IIH subunit 2"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
     exon            1..381
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            382..479
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            480..568
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             513..1700
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="isoform a is encoded by transcript variant 12;
                     general transcription factor IIH, polypeptide 2, 44kD
                     subunit; basic transcription factor 2 44 kDa subunit;
                     general transcription factor IIH polypeptide 2; TFIIH
                     basal transcription factor complex p44 subunit; general
                     transcription factor IIH, polypeptide 2, 44kDa"
                     /codon_start=1
                     /product="general transcription factor IIH subunit 2
                     isoform a"
                     /protein_id="NP_001382321.1"
                     /db_xref="CCDS:CCDS34183.1"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
                     /translation="MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRK
                     RVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPIS
                     QIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMP
                     GHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGT
                     YHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHL
                     DGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEI
                     PLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAP
                     SGV"
     exon            569..646
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            647..683
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            684..770
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            771..821
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            822..876
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            877..982
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1073
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1161
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1269
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1333
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1437
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1540
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1580
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..2030
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1752..1757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1795
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="major polyA site"
     regulatory      1843..1848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1882
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     regulatory      2009..2014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      2014
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     polyA_site      2030
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
ORIGIN      
        1 gagagtcctt ctagcggcgc cggtgagtcc gcgtgtggaa gtctgtgagg cgcagaggtg
       61 gggcaggccg tctggctagc taggcggctg ggagcgtttt cgtggcgggg aacggaggtt
      121 gaattgccct gcctgggctc atagggaagg aggatgtgaa ggagcttgtg aaggcagagg
      181 aaggtaactt tcgtctgggg agccgcagag tagggaggga agctgcaggc cgtctctccc
      241 taagtaaaag cgcgactttt agaaatgatg gttcagggtt cgagtttgtg acccgcttga
      301 gaaagtgacc aacctctgag cctgaatccc atacctgaaa aacaaggaca gtaatcaccc
      361 ttgccagttt cacatagctt ggctggagtg cagtggcaca accttggctc gctccagtgt
      421 ctacctgcca ggttcaagtg attctcctgc ctcagcctcc cgagtagctg ggattacaga
      481 ttattgaata ataaaataca gttttgaaaa aaatggatga agaacctgaa agaactaagc
      541 gatgggaagg aggctatgaa agaacatggg agattcttaa agaagatgaa tctggatcac
      601 ttaaagctac aatagaagac attctattca aggcaaagag aaaaagagta tttgagcacc
      661 atggacaagt tcgacttgga atgatgcgcc acctttatgt ggtagtagat ggatcaagaa
      721 caatggaaga ccaagattta aagcctaata gactgacgtg tactttaaag ttgttggaat
      781 actttgtaga ggaatatttt gatcaaaatc ctattagtca gattggaata attgtaacta
      841 agagtaaaag agctgaaaaa ttgactgaac tttcaggaaa cccaagaaaa catataacgt
      901 ctttgaagaa agctgtggat atgacctgcc atggagagcc atctctttat aattccctaa
      961 gcatagctat gcagactcta aaacacatgc ctggacatac aagtcgagaa gtactaatca
     1021 tctttagcag ccttacaact tgcgatccat ctaatattta tgatctaatc aagaccctaa
     1081 aggcagctaa aattagagta tctgttattg gattgtctgc agaagttcgc gtttgcactg
     1141 tacttgctcg tgaaactggt ggcacgtacc atgttatttt agatgaaagc cattacaaag
     1201 agttgctcac acatcatgtt agtcctcctc ctgctagctc aagttctgaa tgctcactta
     1261 ttcgtatggg atttcctcag cacaccattg cttctttatc tgaccaggat gcaaaaccct
     1321 ctttcagcat ggcgcatttg gatggcaata ctgagccagg gcttacatta ggaggctatt
     1381 tctgcccaca gtgtcgggca aagtactgtg agctacctgt tgagtgtaaa atctgtggtc
     1441 ttactttggt gtctgctccc cacttggcac ggtcttacca tcatttgttt cctttggatg
     1501 cttttcaaga aattccccta gaagaatata atggagaaag attttgttat ggatgtcagg
     1561 gggaattgaa agaccaacat gtttatgttt gtgctgtgtg ccaaaatgtt ttctgtgtgg
     1621 actgtgatgt ttttgttcat gattctctac actgttgccc tggctgtatt cataagattc
     1681 cagctccttc aggtgtttga ttccagcatg tagtatacat tgtatgtgtt aaaaagaaat
     1741 ttgcaactgt gaataaaagg acttctttag aagaagcttc atttaaaaca tgaaaggata
     1801 atctgactta agaaactttt tgctaagaaa aggtaatatt ttattaaatt ttaaatttgt
     1861 gttgtcacag aaatacctga aattcagtag tacttcattc aattaatttt gttttctatt
     1921 attttgagtt atactgtttt caaagtcatt atgcagtatg tataaactta taagaattaa
     1981 attgatgtga taattttatg tttttataat taaatataga atctttatga
//
