LOCUS       NM_001364567            1671 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens general transcription factor IIH subunit 2 (GTF2H2),
            transcript variant 2, mRNA.
ACCESSION   NM_001364567
VERSION     NM_001364567.2
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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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 1671)
  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.
            
            On Jun 26, 2021 this sequence version replaced NM_001364567.1.
            
            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 :: SRR14038192.120210.1,
                                           SRR18074969.804633.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC044797.5         164641-164662       c
            23-120              AC044797.5         162111-162208       c
            121-209             AC044797.5         159694-159782       c
            210-287             AC044797.5         158674-158751       c
            288-324             AC044797.5         158258-158294       c
            325-411             AC044797.5         157830-157916       c
            412-462             AC044797.5         157106-157156       c
            463-517             AC044797.5         156676-156730       c
            518-623             AC044797.5         152338-152443       c
            624-714             AC044797.5         146054-146144       c
            715-802             AC044797.5         145748-145835       c
            803-910             AC044797.5         144992-145099       c
            911-974             AC044797.5         142430-142493       c
            975-1078            AC044797.5         139167-139270       c
            1079-1181           AC044797.5         138508-138610       c
            1182-1221           AC044797.5         134493-134532       c
            1222-1671           AC044797.5         132333-132782       c
FEATURES             Location/Qualifiers
     source          1..1671
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1671
                     /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..22
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            23..120
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            121..209
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..1341
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="isoform a is encoded by transcript variant 2;
                     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_001351496.1"
                     /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            210..287
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            288..324
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            325..411
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            412..462
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            463..517
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            518..623
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            624..714
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            715..802
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            803..910
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            911..974
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1078
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1181
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1221
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1671
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1393..1398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: AATAAA"
     polyA_site      1436
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="major polyA site"
     regulatory      1484..1489
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1523
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     regulatory      1617..1622
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     regulatory      1650..1655
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
                     /note="hexamer: ATTAAA"
     polyA_site      1655
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
     polyA_site      1671
                     /gene="GTF2H2"
                     /gene_synonym="BTF2; BTF2 p44; BTF2P44; p44; T-BTF2P44;
                     TFIIH"
ORIGIN      
        1 gagagtcctt ctagcggcgc cggctggagt gcagtggcac aaccttggct cgctccagtg
       61 tctacctgcc aggttcaagt gattctcctg cctcagcctc ccgagtagct gggattacag
      121 attattgaat aataaaatac agttttgaaa aaaatggatg aagaacctga aagaactaag
      181 cgatgggaag gaggctatga aagaacatgg gagattctta aagaagatga atctggatca
      241 cttaaagcta caatagaaga cattctattc aaggcaaaga gaaaaagagt atttgagcac
      301 catggacaag ttcgacttgg aatgatgcgc cacctttatg tggtagtaga tggatcaaga
      361 acaatggaag accaagattt aaagcctaat agactgacgt gtactttaaa gttgttggaa
      421 tactttgtag aggaatattt tgatcaaaat cctattagtc agattggaat aattgtaact
      481 aagagtaaaa gagctgaaaa attgactgaa ctttcaggaa acccaagaaa acatataacg
      541 tctttgaaga aagctgtgga tatgacctgc catggagagc catctcttta taattcccta
      601 agcatagcta tgcagactct aaaacacatg cctggacata caagtcgaga agtactaatc
      661 atctttagca gccttacaac ttgcgatcca tctaatattt atgatctaat caagacccta
      721 aaggcagcta aaattagagt atctgttatt ggattgtctg cagaagttcg cgtttgcact
      781 gtacttgctc gtgaaactgg tggcacgtac catgttattt tagatgaaag ccattacaaa
      841 gagttgctca cacatcatgt tagtcctcct cctgctagct caagttctga atgctcactt
      901 attcgtatgg gatttcctca gcacaccatt gcttctttat ctgaccagga tgcaaaaccc
      961 tctttcagca tggcgcattt ggatggcaat actgagccag ggcttacatt aggaggctat
     1021 ttctgcccac agtgtcgggc aaagtactgt gagctacctg ttgagtgtaa aatctgtggt
     1081 cttactttgg tgtctgctcc ccacttggca cggtcttacc atcatttgtt tcctttggat
     1141 gcttttcaag aaattcccct agaagaatat aatggagaaa gattttgtta tggatgtcag
     1201 ggggaattga aagaccaaca tgtttatgtt tgtgctgtgt gccaaaatgt tttctgtgtg
     1261 gactgtgatg tttttgttca tgattctcta cactgttgcc ctggctgtat tcataagatt
     1321 ccagctcctt caggtgtttg attccagcat gtagtataca ttgtatgtgt taaaaagaaa
     1381 tttgcaactg tgaataaaag gacttcttta gaagaagctt catttaaaac atgaaaggat
     1441 aatctgactt aagaaacttt ttgctaagaa aaggtaatat tttattaaat tttaaatttg
     1501 tgttgtcaca gaaatacctg aaattcagta gtacttcatt caattaattt tgttttctat
     1561 tattttgagt tatactgttt tcaaagtcat tatgcagtat gtataaactt ataagaatta
     1621 aattgatgtg ataattttat gtttttataa ttaaatatag aatctttatg a
//
