LOCUS       NM_001395391            1932 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 2 (GTF2H2),
            transcript variant 11, mRNA.
ACCESSION   NM_001395391
VERSION     NM_001395391.1
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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 1932)
  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 :: SRR14038195.812661.1,
                                           SRR14038197.418225.1 [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
            382-470             AC044797.5         159694-159782       c
            471-548             AC044797.5         158674-158751       c
            549-585             AC044797.5         158258-158294       c
            586-672             AC044797.5         157830-157916       c
            673-723             AC044797.5         157106-157156       c
            724-778             AC044797.5         156676-156730       c
            779-884             AC044797.5         152338-152443       c
            885-975             AC044797.5         146054-146144       c
            976-1063            AC044797.5         145748-145835       c
            1064-1171           AC044797.5         144992-145099       c
            1172-1235           AC044797.5         142430-142493       c
            1236-1339           AC044797.5         139167-139270       c
            1340-1442           AC044797.5         138508-138610       c
            1443-1482           AC044797.5         134493-134532       c
            1483-1932           AC044797.5         132333-132782       c
FEATURES             Location/Qualifiers
     source          1..1932
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1932
                     /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..470
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             415..1602
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="isoform a is encoded by transcript variant 11;
                     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_001382320.1"
                     /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            471..548
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            549..585
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            586..672
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            673..723
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            724..778
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            779..884
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            885..975
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1063
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1171
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1235
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1339
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..1442
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1482
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1932
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1654..1659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1697
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="major polyA site"
     regulatory      1745..1750
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1784
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     regulatory      1878..1883
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1916
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     polyA_site      1932
                     /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 gattattgaa taataaaata cagttttgaa aaaaatggat
      421 gaagaacctg aaagaactaa gcgatgggaa ggaggctatg aaagaacatg ggagattctt
      481 aaagaagatg aatctggatc acttaaagct acaatagaag acattctatt caaggcaaag
      541 agaaaaagag tatttgagca ccatggacaa gttcgacttg gaatgatgcg ccacctttat
      601 gtggtagtag atggatcaag aacaatggaa gaccaagatt taaagcctaa tagactgacg
      661 tgtactttaa agttgttgga atactttgta gaggaatatt ttgatcaaaa tcctattagt
      721 cagattggaa taattgtaac taagagtaaa agagctgaaa aattgactga actttcagga
      781 aacccaagaa aacatataac gtctttgaag aaagctgtgg atatgacctg ccatggagag
      841 ccatctcttt ataattccct aagcatagct atgcagactc taaaacacat gcctggacat
      901 acaagtcgag aagtactaat catctttagc agccttacaa cttgcgatcc atctaatatt
      961 tatgatctaa tcaagaccct aaaggcagct aaaattagag tatctgttat tggattgtct
     1021 gcagaagttc gcgtttgcac tgtacttgct cgtgaaactg gtggcacgta ccatgttatt
     1081 ttagatgaaa gccattacaa agagttgctc acacatcatg ttagtcctcc tcctgctagc
     1141 tcaagttctg aatgctcact tattcgtatg ggatttcctc agcacaccat tgcttcttta
     1201 tctgaccagg atgcaaaacc ctctttcagc atggcgcatt tggatggcaa tactgagcca
     1261 gggcttacat taggaggcta tttctgccca cagtgtcggg caaagtactg tgagctacct
     1321 gttgagtgta aaatctgtgg tcttactttg gtgtctgctc cccacttggc acggtcttac
     1381 catcatttgt ttcctttgga tgcttttcaa gaaattcccc tagaagaata taatggagaa
     1441 agattttgtt atggatgtca gggggaattg aaagaccaac atgtttatgt ttgtgctgtg
     1501 tgccaaaatg ttttctgtgt ggactgtgat gtttttgttc atgattctct acactgttgc
     1561 cctggctgta ttcataagat tccagctcct tcaggtgttt gattccagca tgtagtatac
     1621 attgtatgtg ttaaaaagaa atttgcaact gtgaataaaa ggacttcttt agaagaagct
     1681 tcatttaaaa catgaaagga taatctgact taagaaactt tttgctaaga aaaggtaata
     1741 ttttattaaa ttttaaattt gtgttgtcac agaaatacct gaaattcagt agtacttcat
     1801 tcaattaatt ttgttttcta ttattttgag ttatactgtt ttcaaagtca ttatgcagta
     1861 tgtataaact tataagaatt aaattgatgt gataatttta tgtttttata attaaatata
     1921 gaatctttat ga
//
