GT2D2_MOUSE
ID GT2D2_MOUSE Reviewed; 936 AA.
AC Q99NI3;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=General transcription factor II-I repeat domain-containing protein 2;
DE Short=GTF2I repeat domain-containing protein 2;
DE AltName: Full=Transcription factor GTF2IRD2;
GN Name=Gtf2ird2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC STRAIN=C57BL/6J;
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].
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 [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 DEVELOPMENTAL STAGE.
RX PubMed=17823943; DOI=10.1002/dvdy.21311;
RA Ohazama A., Sharpe P.T.;
RT "TFII-I gene family during tooth development: candidate genes for tooth
RT anomalies in Williams syndrome.";
RL Dev. Dyn. 236:2884-2888(2007).
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15100712}.
CC -!- DEVELOPMENTAL STAGE: No expression in embryo at 9.5 dpc and 10.5 dpc.
CC Expressed in tooth epithelium at 13.5 dpc. At the early bell stage,
CC Expression in preameloblasts and preodontoblasts.
CC {ECO:0000269|PubMed:15100712, ECO:0000269|PubMed:17823943}.
CC -!- SIMILARITY: Belongs to the TFII-I family. {ECO:0000255|PROSITE-
CC ProRule:PRU00484}.
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DR EMBL; AY014963; AAG41674.1; -; mRNA.
DR EMBL; AY116023; AAM48282.1; -; mRNA.
DR EMBL; BC132157; AAI32158.1; -; mRNA.
DR EMBL; BC132159; AAI32160.1; -; mRNA.
DR CCDS; CCDS19719.1; -.
DR RefSeq; NP_444496.1; NM_053266.1.
DR AlphaFoldDB; Q99NI3; -.
DR SMR; Q99NI3; -.
DR STRING; 10090.ENSMUSP00000016086; -.
DR iPTMnet; Q99NI3; -.
DR PhosphoSitePlus; Q99NI3; -.
DR EPD; Q99NI3; -.
DR MaxQB; Q99NI3; -.
DR PaxDb; Q99NI3; -.
DR PeptideAtlas; Q99NI3; -.
DR PRIDE; Q99NI3; -.
DR ProteomicsDB; 271058; -.
DR DNASU; 114674; -.
DR Ensembl; ENSMUST00000016086; ENSMUSP00000016086; ENSMUSG00000015942.
DR GeneID; 114674; -.
DR KEGG; mmu:114674; -.
DR UCSC; uc008zve.1; mouse.
DR CTD; 84163; -.
DR MGI; MGI:2149780; Gtf2ird2.
DR VEuPathDB; HostDB:ENSMUSG00000015942; -.
DR eggNOG; ENOG502QS6T; Eukaryota.
DR GeneTree; ENSGT00940000162266; -.
DR HOGENOM; CLU_310345_0_0_1; -.
DR InParanoid; Q99NI3; -.
DR OMA; HHCAKVL; -.
DR OrthoDB; 788135at2759; -.
DR PhylomeDB; Q99NI3; -.
DR TreeFam; TF352524; -.
DR BioGRID-ORCS; 114674; 4 hits in 71 CRISPR screens.
DR ChiTaRS; Gtf2ird2; mouse.
DR PRO; PR:Q99NI3; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q99NI3; protein.
DR Bgee; ENSMUSG00000015942; Expressed in saccule of membranous labyrinth and 239 other tissues.
DR ExpressionAtlas; Q99NI3; baseline and differential.
DR Genevisible; Q99NI3; MM.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0014883; P:transition between fast and slow fiber; IDA:MGI.
DR Gene3D; 3.90.1460.10; -; 2.
DR InterPro; IPR025398; DUF4371.
DR InterPro; IPR004212; GTF2I.
DR InterPro; IPR036647; GTF2I-like_rpt_sf.
DR InterPro; IPR042224; GTF2IRD2.
DR InterPro; IPR040647; SPIN-DOC_Znf-C2H2.
DR PANTHER; PTHR47831; PTHR47831; 1.
DR Pfam; PF14291; DUF4371; 1.
DR Pfam; PF02946; GTF2I; 2.
DR Pfam; PF18658; zf-C2H2_12; 1.
DR SUPFAM; SSF117773; SSF117773; 2.
DR PROSITE; PS51139; GTF2I; 2.
PE 2: Evidence at transcript level;
KW DNA-binding; Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation.
FT CHAIN 1..936
FT /note="General transcription factor II-I repeat domain-
FT containing protein 2"
FT /id="PRO_0000320122"
FT REPEAT 95..189
FT /note="GTF2I-like 1"
FT REPEAT 319..413
FT /note="GTF2I-like 2"
FT REGION 199..222
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 936 AA; 104578 MW; 28CB2994C0ABB1A9 CRC64;
MAQVAVTTQP TDEPSDGRMV VTFLMSALES MCKELAKSKA EVACIAVYET DVYVVGTERG
CAFVNARQDL QKDFAQHCQG EGLPEEKPLC LGNGEACPGE AQLLRRAVQD HFCLCYRKAL
GTTAMVPVPY EQMLQDEAAV VVRGLPEGLA FQHPDNYSLA TLKWILENKA GISFAVKRPF
LGAESQLGGL GMVTDAGRPT VPPNDSYGPV SVKTEPMEDS GTSPRAAAML IKTESEDPNY
NVCNVQGSQH FSASSDVTGM ELPSEESTRM VALETNEDPE TEVKMEGNAS PSNLVNSAAG
VEDLRIIQVT VADNEKERLS GLEKIKQLRE QVNDLFSRKF GEAIGVDFPV KVPYRKITFN
PGCVVIDGMP PGVVFKAPGY LEISSMRRIL DAADFIKFTV IRPLPGLELS NVGKRKIDQE
GRVFQEKWER AYFFVEVQNI PTCLICKQSV SVSKEYNLRR HYQTNHSRHY DQYSGQAREE
KLRELKRGLR KYLLGASEIV CPEQPFPNAS PPTNSAVQPA EEVAGSLWEK LRQKIRSFVA
YSIAIDEITD INDTTQLAIF IRGVDDNFDV SEELLDTVPM TGAKSGNEIF LRVEKSLKKF
SIDWSKLVSV ASTGTPAMMD ANSGLVTKLR ARAASCCKGA DLKSVRCIIH PEWLCAQKLR
MGHVMDVVVD SVNWICSRGL NHGDFTTLLY ELDSQYGSLL YHTALKWLGR GLVLRRFFES
LEEIDSFMSS RGKPVPQLSS RDWILDLAFL VDMTTHLNTL DASLQGHSQI VTQMYDFIRA
FLAKLCLWET HLARNNLAHF PTLKSVSRSE SDGLNYIPKI VELKAEFQRR LSDFKSCESE
LTLFSSPFST TIDSVREELQ MEVIDLQCNT VLRTKYDKVG VPDFYKHLWS SYPKYRSHCA
RMLSMFSSTH ICEQLFSILK LSKKEAQWGA ALQVAT
