LOCUS       NM_001395397            1661 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 2 (GTF2H2),
            transcript variant 19, mRNA.
ACCESSION   NM_001395397
VERSION     NM_001395397.1
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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 1661)
  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 :: SRR18074968.1641924.1,
                                           SRR14038194.932024.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AC044797.5         164606-164662       c
            58-146              AC044797.5         159694-159782       c
            147-224             AC044797.5         158674-158751       c
            225-261             AC044797.5         158258-158294       c
            262-348             AC044797.5         157830-157916       c
            349-399             AC044797.5         157106-157156       c
            400-454             AC044797.5         156676-156730       c
            455-560             AC044797.5         152338-152443       c
            561-651             AC044797.5         146054-146144       c
            652-739             AC044797.5         145748-145835       c
            740-847             AC044797.5         144992-145099       c
            848-911             AC044797.5         142430-142493       c
            912-1015            AC044797.5         139167-139270       c
            1016-1118           AC044797.5         138508-138610       c
            1119-1171           AC044797.5         135415-135467       c
            1172-1211           AC044797.5         134493-134532       c
            1212-1661           AC044797.5         132333-132782       c
FEATURES             Location/Qualifiers
     source          1..1661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1661
                     /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..57
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            58..146
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..1170
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="isoform b is encoded by transcript variant 19;
                     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 b"
                     /protein_id="NP_001382326.1"
                     /db_xref="GeneID:2966"
                     /db_xref="HGNC:HGNC:4656"
                     /db_xref="MIM:601748"
                     /translation="MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRK
                     RVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPIS
                     QIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMP
                     GHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGT
                     YHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHL
                     DGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEI
                     PLEEYNGESWRFIAKNCEESQSSTY"
     exon            147..224
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            225..261
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            262..348
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            349..399
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            400..454
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            455..560
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            561..651
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            652..739
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            740..847
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            848..911
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1015
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1118
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1171
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1211
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1661
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1383..1388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1426
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="major polyA site"
     regulatory      1474..1479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1513
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     regulatory      1607..1612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     regulatory      1640..1645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1645
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     polyA_site      1661
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
ORIGIN      
        1 gagagtcctt ctagcggcgc cggtgagtcc gcgtgtggaa gtctgtgagg cgcagagatt
       61 attgaataat aaaatacagt tttgaaaaaa atggatgaag aacctgaaag aactaagcga
      121 tgggaaggag gctatgaaag aacatgggag attcttaaag aagatgaatc tggatcactt
      181 aaagctacaa tagaagacat tctattcaag gcaaagagaa aaagagtatt tgagcaccat
      241 ggacaagttc gacttggaat gatgcgccac ctttatgtgg tagtagatgg atcaagaaca
      301 atggaagacc aagatttaaa gcctaataga ctgacgtgta ctttaaagtt gttggaatac
      361 tttgtagagg aatattttga tcaaaatcct attagtcaga ttggaataat tgtaactaag
      421 agtaaaagag ctgaaaaatt gactgaactt tcaggaaacc caagaaaaca tataacgtct
      481 ttgaagaaag ctgtggatat gacctgccat ggagagccat ctctttataa ttccctaagc
      541 atagctatgc agactctaaa acacatgcct ggacatacaa gtcgagaagt actaatcatc
      601 tttagcagcc ttacaacttg cgatccatct aatatttatg atctaatcaa gaccctaaag
      661 gcagctaaaa ttagagtatc tgttattgga ttgtctgcag aagttcgcgt ttgcactgta
      721 cttgctcgtg aaactggtgg cacgtaccat gttattttag atgaaagcca ttacaaagag
      781 ttgctcacac atcatgttag tcctcctcct gctagctcaa gttctgaatg ctcacttatt
      841 cgtatgggat ttcctcagca caccattgct tctttatctg accaggatgc aaaaccctct
      901 ttcagcatgg cgcatttgga tggcaatact gagccagggc ttacattagg aggctatttc
      961 tgcccacagt gtcgggcaaa gtactgtgag ctacctgttg agtgtaaaat ctgtggtctt
     1021 actttggtgt ctgctcccca cttggcacgg tcttaccatc atttgtttcc tttggatgct
     1081 tttcaagaaa ttcccctaga agaatataat ggagaaagtt ggagattcat agccaaaaac
     1141 tgtgaagaat cacaaagtag cacttattag aattttgtta tggatgtcag ggggaattga
     1201 aagaccaaca tgtttatgtt tgtgctgtgt gccaaaatgt tttctgtgtg gactgtgatg
     1261 tttttgttca tgattctcta cactgttgcc ctggctgtat tcataagatt ccagctcctt
     1321 caggtgtttg attccagcat gtagtataca ttgtatgtgt taaaaagaaa tttgcaactg
     1381 tgaataaaag gacttcttta gaagaagctt catttaaaac atgaaaggat aatctgactt
     1441 aagaaacttt ttgctaagaa aaggtaatat tttattaaat tttaaatttg tgttgtcaca
     1501 gaaatacctg aaattcagta gtacttcatt caattaattt tgttttctat tattttgagt
     1561 tatactgttt tcaaagtcat tatgcagtat gtataaactt ataagaatta aattgatgtg
     1621 ataattttat gtttttataa ttaaatatag aatctttatg a
//
