GTD2A_HUMAN
ID GTD2A_HUMAN Reviewed; 949 AA.
AC Q86UP8; A0A0A0MSY2; A8K5W6; B3KUZ2; Q69G40; Q6EKI8; Q6EKI9; Q6NVW2; Q6P7N8;
AC Q86WX4; Q8ND85; Q8NDE5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 12-SEP-2018, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=General transcription factor II-I repeat domain-containing protein 2A;
DE Short=GTF2I repeat domain-containing protein 2A;
DE AltName: Full=Transcription factor GTF2IRD2-alpha;
GN Name=GTF2IRD2; Synonyms=GTF2IRD2A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP HIS-514.
RX PubMed=15100712; DOI=10.1038/sj.ejhg.5201174;
RA Tipney H.J., Hinsley T.A., Brass A., Metcalfe K., Donnai D., Tassabehji M.;
RT "Isolation and characterisation of GTF2IRD2, a novel fusion gene and member
RT of the TFII-I family of transcription factors, deleted in Williams-Beuren
RT syndrome.";
RL Eur. J. Hum. Genet. 12:551-560(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT HIS-514.
RX PubMed=15243160; DOI=10.1073/pnas.0404150101;
RA Makeyev A.V., Erdenechimeg L., Mungunsukh O., Roth J.J., Enkhmandakh B.,
RA Ruddle F.H., Bayarsaihan D.;
RT "GTF2IRD2 is located in the Williams-Beuren syndrome critical region
RT 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix
RT repeats.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:11052-11057(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
RX PubMed=15388857; DOI=10.1110/ps.04747604;
RA Hinsley T.A., Cunliffe P., Tipney H.J., Brass A., Tassabehji M.;
RT "Comparison of TFII-I gene family members deleted in Williams-Beuren
RT syndrome.";
RL Protein Sci. 13:2588-2599(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
RC TISSUE=Testis, and Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5).
RC TISSUE=Ovary, Placenta, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP POTENTIAL INVOLVEMENT IN WILLIAMS-BEUREN SYNDROME.
RX PubMed=16532385; DOI=10.1086/501073;
RA Del Campo M., Antonell A., Magano L.F., Munoz F.J., Flores R., Bayes M.,
RA Perez Jurado L.A.;
RT "Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome
RT decreases their risk of hypertension.";
RL Am. J. Hum. Genet. 78:533-542(2006).
CC -!- INTERACTION:
CC Q86UP8; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-6425928, EBI-2130429;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q86UP8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86UP8-2; Sequence=VSP_031600;
CC Name=3;
CC IsoId=Q86UP8-3; Sequence=VSP_031603, VSP_031604;
CC Name=4;
CC IsoId=Q86UP8-4; Sequence=VSP_031598, VSP_031599;
CC Name=5;
CC IsoId=Q86UP8-5; Sequence=VSP_031601, VSP_031602;
CC Name=6;
CC IsoId=Q86UP8-6; Sequence=VSP_031597;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15100712}.
CC -!- DISEASE: Note=GTF2IRD2 is located in the Williams-Beuren syndrome (WBS)
CC critical region. WBS results from a hemizygous deletion of several
CC genes on chromosome 7q11.23, thought to arise as a consequence of
CC unequal crossing over between highly homologous low-copy repeat
CC sequences flanking the deleted region (PubMed:16532385).
CC {ECO:0000269|PubMed:16532385}.
CC -!- SIMILARITY: Belongs to the TFII-I family. {ECO:0000255|PROSITE-
CC ProRule:PRU00484}.
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DR EMBL; AY312853; AAQ19673.1; -; mRNA.
DR EMBL; AY312854; AAQ19674.1; -; mRNA.
DR EMBL; AY260739; AAP14955.1; -; mRNA.
DR EMBL; AY336979; AAR36865.1; -; mRNA.
DR EMBL; AY336980; AAR36866.1; -; mRNA.
DR EMBL; AY336981; AAR36867.1; -; mRNA.
DR EMBL; AC211424; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC211433; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK098269; BAG53604.1; -; mRNA.
DR EMBL; AK291431; BAF84120.1; -; mRNA.
DR EMBL; AL833932; CAD38788.2; -; mRNA.
DR EMBL; AL834153; CAD38861.1; -; mRNA.
DR EMBL; BC047706; AAH47706.1; -; mRNA.
DR EMBL; BC061590; AAH61590.1; -; mRNA.
DR EMBL; BC067859; AAH67859.1; -; mRNA.
DR CCDS; CCDS5576.1; -. [Q86UP8-1]
DR CCDS; CCDS64682.1; -. [Q86UP8-4]
DR RefSeq; NP_001268376.1; NM_001281447.1. [Q86UP8-4]
DR RefSeq; NP_775808.3; NM_173537.3. [Q86UP8-1]
DR AlphaFoldDB; Q86UP8; -.
DR SMR; Q86UP8; -.
DR BioGRID; 123920; 13.
DR IntAct; Q86UP8; 11.
DR STRING; 9606.ENSP00000406723; -.
DR iPTMnet; Q86UP8; -.
DR PhosphoSitePlus; Q86UP8; -.
DR BioMuta; GTF2IRD2; -.
DR DMDM; 187607027; -.
DR EPD; Q86UP8; -.
DR jPOST; Q86UP8; -.
DR MassIVE; Q86UP8; -.
DR MaxQB; Q86UP8; -.
DR PaxDb; Q86UP8; -.
DR PeptideAtlas; Q86UP8; -.
DR PRIDE; Q86UP8; -.
DR Antibodypedia; 28921; 74 antibodies from 14 providers.
DR DNASU; 84163; -.
DR Ensembl; ENST00000451013.7; ENSP00000406723.3; ENSG00000196275.16. [Q86UP8-1]
DR Ensembl; ENST00000614386.1; ENSP00000481017.1; ENSG00000196275.16. [Q86UP8-4]
DR GeneID; 84163; -.
DR KEGG; hsa:84163; -.
DR MANE-Select; ENST00000451013.7; ENSP00000406723.3; NM_173537.5; NP_775808.4.
DR UCSC; uc003ubh.5; human. [Q86UP8-1]
DR CTD; 84163; -.
DR DisGeNET; 84163; -.
DR GeneCards; GTF2IRD2; -.
DR HGNC; HGNC:30775; GTF2IRD2.
DR HPA; ENSG00000196275; Low tissue specificity.
DR MIM; 608899; gene.
DR neXtProt; NX_Q86UP8; -.
DR OpenTargets; ENSG00000196275; -.
DR Orphanet; 904; Williams syndrome.
DR PharmGKB; PA162390407; -.
DR VEuPathDB; HostDB:ENSG00000196275; -.
DR eggNOG; ENOG502QS6T; Eukaryota.
DR GeneTree; ENSGT00940000162266; -.
DR HOGENOM; CLU_176658_0_0_1; -.
DR InParanoid; Q86UP8; -.
DR OrthoDB; 788135at2759; -.
DR PhylomeDB; Q86UP8; -.
DR TreeFam; TF352524; -.
DR PathwayCommons; Q86UP8; -.
DR SignaLink; Q86UP8; -.
DR BioGRID-ORCS; 84163; 62 hits in 957 CRISPR screens.
DR ChiTaRS; GTF2IRD2; human.
DR GenomeRNAi; 84163; -.
DR Pharos; Q86UP8; Tbio.
DR PRO; PR:Q86UP8; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q86UP8; protein.
DR Bgee; ENSG00000196275; Expressed in right uterine tube and 94 other tissues.
DR ExpressionAtlas; Q86UP8; baseline and differential.
DR Genevisible; Q86UP8; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; NAS:ARUK-UCL.
DR Gene3D; 3.90.1460.10; -; 2.
DR InterPro; IPR004212; GTF2I.
DR InterPro; IPR036647; GTF2I-like_rpt_sf.
DR InterPro; IPR042224; GTF2IRD2.
DR InterPro; IPR012337; RNaseH-like_sf.
DR PANTHER; PTHR47831; PTHR47831; 1.
DR Pfam; PF02946; GTF2I; 2.
DR SUPFAM; SSF117773; SSF117773; 2.
DR SUPFAM; SSF53098; SSF53098; 1.
DR PROSITE; PS51139; GTF2I; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Williams-Beuren syndrome.
FT CHAIN 1..949
FT /note="General transcription factor II-I repeat domain-
FT containing protein 2A"
FT /id="PRO_0000320120"
FT REPEAT 98..192
FT /note="GTF2I-like 1"
FT REPEAT 323..417
FT /note="GTF2I-like 2"
FT VAR_SEQ 1..453
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031597"
FT VAR_SEQ 81..108
FT /note="VAEGLCEVKPPCPVNGMQVHSGETEILR -> RCFNFILCIPNLKRIAGKTS
FT TVFSSKLS (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15388857,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031598"
FT VAR_SEQ 109..949
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15388857,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031599"
FT VAR_SEQ 182..949
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15388857"
FT /id="VSP_031600"
FT VAR_SEQ 225..256
FT /note="ISLKAEAVSVKKESEDPNYYQYNMQGSHPSST -> GYQDAFRIKYRPSVVA
FT HACNPSNLGGRGRRIT (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15388857,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031601"
FT VAR_SEQ 257..949
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15388857,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031602"
FT VAR_SEQ 416..498
FT /note="VGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLRRHYQ
FT TNHSKHYDQYMERMRDEKLHELKKGLRKYLL -> GLLEAGAGGLLEAGSLRPAWATWQ
FT DPISTKNLKISWKQWLTPVAPATWQAEAGGSLELRSLRQQRTIIAILHSSLGDRTRPCL
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031603"
FT VAR_SEQ 499..949
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031604"
FT VARIANT 514
FT /note="N -> H (in dbSNP:rs2529318)"
FT /evidence="ECO:0000269|PubMed:15100712,
FT ECO:0000269|PubMed:15243160"
FT /id="VAR_039127"
FT CONFLICT 39
FT /note="K -> E (in Ref. 2; AAP14955, 3; AAR36866 and 7;
FT AAH47706)"
FT /evidence="ECO:0000305"
FT CONFLICT 500
FT /note="S -> L (in Ref. 1; AAQ19673/AAQ19674 and 2;
FT AAP14955)"
FT /evidence="ECO:0000305"
FT CONFLICT 605
FT /note="N -> K (in Ref. 1; AAQ19673/AAQ19674, 2; AAP14955,
FT 4; BAF84120 and 5; CAD38788/CAD38861)"
FT /evidence="ECO:0000305"
FT CONFLICT 716
FT /note="R -> C (in Ref. 5; CAD38861)"
FT /evidence="ECO:0000305"
FT CONFLICT 830
FT /note="Q -> K (in Ref. 1; AAQ19673/AAQ19674, 2; AAP14955,
FT 4; BAF84120 and 5; CAD38788/CAD38861)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 949 AA; 107168 MW; A622448D90983593 CRC64;
MAQVAVSTLP VEEESSSETR MVVTFLVSAL ESMCKELAKS KAEVACIAVY ETDVFVVGTE
RGCAFVNART DFQKDFAKYC VAEGLCEVKP PCPVNGMQVH SGETEILRKA VEDYFCFCYG
KALGTTVMVP VPYEKMLRDQ SAVVVQGLPE GVAFQHPENY DLATLKWILE NKAGISFIIN
RPFLGPESQL GGPGMVTDAE RSIVSPSESC GPINVKTEPM EDSGISLKAE AVSVKKESED
PNYYQYNMQG SHPSSTSNEV IEMELPMEDS TPLVPSEEPN EDPEAEVKIE GNTNSSSVTN
SAAGVEDLNI VQVTVPDNEK ERLSSIEKIK QLREQVNDLF SRKFGEAIGV DFPVKVPYRK
ITFNPGCVVI DGMPPGVVFK APGYLEISSM RRILEAAEFI KFTVIRPLPG LELSNVGKRK
IDQEGRVFQE KWERAYFFVE VQNIPTCLIC KQSMSVSKEY NLRRHYQTNH SKHYDQYMER
MRDEKLHELK KGLRKYLLGS SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK
IRSFVAYSIA IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFSRVE
KSLKNFCIDW SKLVSVASTG TPAMVDANNG LVTKLKSRVA TFCKGAELKS ICCIIHPESL
CAQKLKMDHV MDVVVKSVNW ICSRGLNHSE FTTLLYELDS QYGSLLYYTE IKWLSRGLVL
KRFFESLEEI DSFMSSRGKP LPQLSSIDWI RDLAFLVDMT MHLNALNISL QGHSQIVTQM
YDLIRAFLAK LCLWETHLTR NNLAHFPTLK LASRNESDGL NYIPKIAELQ TEFQKRLSDF
KLYESELTLF SSPFSTKIDS VHEELQMEVI DLQCNTVLKT KYDKVGIPEF YKYLWGSYPK
YKHHCAKILS MFGSTYICEQ LFSIMKLSKT KYCSQLKDSQ WDSVLHIAT
