GTD2B_HUMAN
ID GTD2B_HUMAN Reviewed; 949 AA.
AC Q6EKJ0; B2RNE9; Q69GU6; Q8N979; Q9H739;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=General transcription factor II-I repeat domain-containing protein 2B;
DE Short=GTF2I repeat domain-containing protein 2B;
DE AltName: Full=Transcription factor GTF2IRD2-beta;
GN Name=GTF2IRD2B;
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).
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 2).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 246-949 (ISOFORM 1).
RC TISSUE=Brain, and Colon;
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 [5]
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).
RN [6]
RP STRUCTURE BY NMR OF 107-192.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of RSGI RUH-068, a GTF2I domain in human cDNA.";
RL Submitted (MAY-2007) to the PDB data bank.
CC -!- INTERACTION:
CC Q6EKJ0; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-12338155, EBI-2130429;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6EKJ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6EKJ0-2; Sequence=VSP_031605, VSP_031606;
CC -!- TISSUE SPECIFICITY: Ubiquitous.
CC -!- DISEASE: Note=GTF2IRD2B is located in the Williams-Beuren syndrome
CC (WBS) critical region. WBS results from a hemizygous deletion of
CC several genes on chromosome 7q11.23, thought to arise as a consequence
CC of 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}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15060.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC04576.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY312850; AAR36863.1; -; mRNA.
DR EMBL; AY312851; AAR36864.1; -; mRNA.
DR EMBL; AK025076; BAB15060.1; ALT_INIT; mRNA.
DR EMBL; BC136849; AAI36850.1; -; mRNA.
DR EMBL; AK095572; BAC04576.1; ALT_INIT; mRNA.
DR CCDS; CCDS34659.1; -. [Q6EKJ0-1]
DR RefSeq; NP_001003795.1; NM_001003795.2. [Q6EKJ0-1]
DR PDB; 2E3L; NMR; -; A=107-192.
DR PDBsum; 2E3L; -.
DR AlphaFoldDB; Q6EKJ0; -.
DR SMR; Q6EKJ0; -.
DR BioGRID; 133172; 13.
DR IntAct; Q6EKJ0; 5.
DR STRING; 9606.ENSP00000480524; -.
DR iPTMnet; Q6EKJ0; -.
DR PhosphoSitePlus; Q6EKJ0; -.
DR BioMuta; GTF2IRD2B; -.
DR DMDM; 74709247; -.
DR EPD; Q6EKJ0; -.
DR jPOST; Q6EKJ0; -.
DR MassIVE; Q6EKJ0; -.
DR MaxQB; Q6EKJ0; -.
DR PaxDb; Q6EKJ0; -.
DR PeptideAtlas; Q6EKJ0; -.
DR PRIDE; Q6EKJ0; -.
DR ProteomicsDB; 66283; -. [Q6EKJ0-1]
DR ProteomicsDB; 66284; -. [Q6EKJ0-2]
DR Antibodypedia; 67942; 65 antibodies from 14 providers.
DR DNASU; 389524; -.
DR Ensembl; ENST00000418185.6; ENSP00000411454.3; ENSG00000174428.19. [Q6EKJ0-2]
DR Ensembl; ENST00000472837.7; ENSP00000480524.1; ENSG00000174428.19. [Q6EKJ0-1]
DR GeneID; 389524; -.
DR KEGG; hsa:389524; -.
DR MANE-Select; ENST00000472837.7; ENSP00000480524.1; NM_001003795.3; NP_001003795.1.
DR UCSC; uc003ubt.4; human. [Q6EKJ0-1]
DR CTD; 389524; -.
DR GeneCards; GTF2IRD2B; -.
DR HGNC; HGNC:33125; GTF2IRD2B.
DR HPA; ENSG00000174428; Low tissue specificity.
DR MIM; 608900; gene.
DR neXtProt; NX_Q6EKJ0; -.
DR PharmGKB; PA162390444; -.
DR VEuPathDB; HostDB:ENSG00000174428; -.
DR eggNOG; ENOG502QS6T; Eukaryota.
DR GeneTree; ENSGT00940000162266; -.
DR HOGENOM; CLU_310345_0_0_1; -.
DR InParanoid; Q6EKJ0; -.
DR OMA; HHCAKVL; -.
DR OrthoDB; 788135at2759; -.
DR PhylomeDB; Q6EKJ0; -.
DR TreeFam; TF352524; -.
DR PathwayCommons; Q6EKJ0; -.
DR SignaLink; Q6EKJ0; -.
DR BioGRID-ORCS; 389524; 137 hits in 626 CRISPR screens.
DR ChiTaRS; GTF2IRD2B; human.
DR EvolutionaryTrace; Q6EKJ0; -.
DR GenomeRNAi; 389524; -.
DR Pharos; Q6EKJ0; Tbio.
DR PRO; PR:Q6EKJ0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q6EKJ0; protein.
DR Bgee; ENSG00000174428; Expressed in hindlimb stylopod muscle and 95 other tissues.
DR ExpressionAtlas; Q6EKJ0; baseline and differential.
DR Genevisible; Q6EKJ0; 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 InterPro; IPR040647; SPIN-DOC_Znf-C2H2.
DR PANTHER; PTHR47831; PTHR47831; 1.
DR Pfam; PF02946; GTF2I; 2.
DR Pfam; PF18658; zf-C2H2_12; 1.
DR SUPFAM; SSF117773; SSF117773; 2.
DR SUPFAM; SSF53098; SSF53098; 1.
DR PROSITE; PS51139; GTF2I; 2.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; DNA-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Williams-Beuren syndrome.
FT CHAIN 1..949
FT /note="General transcription factor II-I repeat domain-
FT containing protein 2B"
FT /id="PRO_0000320121"
FT REPEAT 98..192
FT /note="GTF2I-like 1"
FT REPEAT 323..417
FT /note="GTF2I-like 2"
FT VAR_SEQ 209..226
FT /note="SCGPINVKTEPMEDSGIS -> RHFTESRSCLSQERIRRS (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15388857"
FT /id="VSP_031605"
FT VAR_SEQ 227..949
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15388857"
FT /id="VSP_031606"
FT CONFLICT 768
FT /note="I -> V (in Ref. 4; BAC04576)"
FT /evidence="ECO:0000305"
FT HELIX 108..123
FT /evidence="ECO:0007829|PDB:2E3L"
FT HELIX 133..138
FT /evidence="ECO:0007829|PDB:2E3L"
FT STRAND 140..147
FT /evidence="ECO:0007829|PDB:2E3L"
FT TURN 157..159
FT /evidence="ECO:0007829|PDB:2E3L"
FT HELIX 162..170
FT /evidence="ECO:0007829|PDB:2E3L"
FT STRAND 176..179
FT /evidence="ECO:0007829|PDB:2E3L"
SQ SEQUENCE 949 AA; 107233 MW; B7151DAB00FB68DA 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 SKHYDQYTER
MRDEKLHELK KGLRKYLLGS SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK
IRSFVAYSIA IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFLRVE
KSLKKFCINW SRLVSVASTG TPAMVDANNG LVTKLKSRVA TFCKGAELKS ICCIIHPESL
CAQKLKMDHV MDVVVKSVNW ICSRGLNHSE FTTLLYELDS QYGSLLYYTE IKWLSRGLVL
KRFFESLEEI DSFMSSRGKP LPQLSSIDWI RDLAFLVDMT MHLNALNISL QGHSQIVTQM
YDLIRAFLAK LCLWETHLTR NNLAHFPTLK LVSRNESDGL NYIPKIAELK TEFQKRLSDF
KLYESELTLF SSPFSTKIDS VHEELQMEVI DLQCNTVLKT KYDKVGIPEF YKYLWGSYPK
YKHHCAKILS MFGSTYICEQ LFSIMKLSKT KYCSQLKDSQ WDSVLHIAT
