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Protein

General transcription factor II-I repeat domain-containing protein 2

Gene

Gtf2ird2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor II-I repeat domain-containing protein 2
Short name:
GTF2I repeat domain-containing protein 2
Alternative name(s):
Transcription factor GTF2IRD2
Gene namesi
Name:Gtf2ird2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:2149780. Gtf2ird2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: GO_Central
  • nucleoplasm Source: GO_Central
  • nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 936936General transcription factor II-I repeat domain-containing protein 2PRO_0000320122Add
BLAST

Proteomic databases

EPDiQ99NI3.
MaxQBiQ99NI3.
PaxDbiQ99NI3.
PeptideAtlasiQ99NI3.
PRIDEiQ99NI3.

PTM databases

iPTMnetiQ99NI3.
PhosphoSiteiQ99NI3.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Developmental stagei

No expression in embryo at E9.5 and 10.5 dpc. Expressed in tooth epithelium at E13.5. At the early bell stage, Expression in preameloblasts and preodontoblasts.2 Publications

Gene expression databases

BgeeiQ99NI3.
CleanExiMM_GTF2IRD2.
ExpressionAtlasiQ99NI3. baseline and differential.
GenevisibleiQ99NI3. MM.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000016086.

Structurei

3D structure databases

ProteinModelPortaliQ99NI3.
SMRiQ99NI3. Positions 104-191, 314-411.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati95 – 18995GTF2I-like 1Add
BLAST
Repeati319 – 41395GTF2I-like 2Add
BLAST

Sequence similaritiesi

Belongs to the TFII-I family.PROSITE-ProRule annotation
Contains 2 GTF2I-like repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IFRD. Eukaryota.
ENOG410XPSC. LUCA.
GeneTreeiENSGT00760000119070.
HOGENOMiHOG000112830.
HOVERGENiHBG107971.
InParanoidiQ99NI3.
OMAiNSVNWIC.
OrthoDBiEOG700892.
PhylomeDBiQ99NI3.
TreeFamiTF352524.

Family and domain databases

Gene3Di3.90.1460.10. 2 hits.
InterProiIPR004212. GTF2I.
[Graphical view]
PfamiPF02946. GTF2I. 2 hits.
[Graphical view]
SUPFAMiSSF117773. SSF117773. 2 hits.
PROSITEiPS51139. GTF2I. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q99NI3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQVAVTTQP TDEPSDGRMV VTFLMSALES MCKELAKSKA EVACIAVYET
60 70 80 90 100
DVYVVGTERG CAFVNARQDL QKDFAQHCQG EGLPEEKPLC LGNGEACPGE
110 120 130 140 150
AQLLRRAVQD HFCLCYRKAL GTTAMVPVPY EQMLQDEAAV VVRGLPEGLA
160 170 180 190 200
FQHPDNYSLA TLKWILENKA GISFAVKRPF LGAESQLGGL GMVTDAGRPT
210 220 230 240 250
VPPNDSYGPV SVKTEPMEDS GTSPRAAAML IKTESEDPNY NVCNVQGSQH
260 270 280 290 300
FSASSDVTGM ELPSEESTRM VALETNEDPE TEVKMEGNAS PSNLVNSAAG
310 320 330 340 350
VEDLRIIQVT VADNEKERLS GLEKIKQLRE QVNDLFSRKF GEAIGVDFPV
360 370 380 390 400
KVPYRKITFN PGCVVIDGMP PGVVFKAPGY LEISSMRRIL DAADFIKFTV
410 420 430 440 450
IRPLPGLELS NVGKRKIDQE GRVFQEKWER AYFFVEVQNI PTCLICKQSV
460 470 480 490 500
SVSKEYNLRR HYQTNHSRHY DQYSGQAREE KLRELKRGLR KYLLGASEIV
510 520 530 540 550
CPEQPFPNAS PPTNSAVQPA EEVAGSLWEK LRQKIRSFVA YSIAIDEITD
560 570 580 590 600
INDTTQLAIF IRGVDDNFDV SEELLDTVPM TGAKSGNEIF LRVEKSLKKF
610 620 630 640 650
SIDWSKLVSV ASTGTPAMMD ANSGLVTKLR ARAASCCKGA DLKSVRCIIH
660 670 680 690 700
PEWLCAQKLR MGHVMDVVVD SVNWICSRGL NHGDFTTLLY ELDSQYGSLL
710 720 730 740 750
YHTALKWLGR GLVLRRFFES LEEIDSFMSS RGKPVPQLSS RDWILDLAFL
760 770 780 790 800
VDMTTHLNTL DASLQGHSQI VTQMYDFIRA FLAKLCLWET HLARNNLAHF
810 820 830 840 850
PTLKSVSRSE SDGLNYIPKI VELKAEFQRR LSDFKSCESE LTLFSSPFST
860 870 880 890 900
TIDSVREELQ MEVIDLQCNT VLRTKYDKVG VPDFYKHLWS SYPKYRSHCA
910 920 930
RMLSMFSSTH ICEQLFSILK LSKKEAQWGA ALQVAT
Length:936
Mass (Da):104,578
Last modified:June 1, 2001 - v1
Checksum:i28CB2994C0ABB1A9
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY014963 mRNA. Translation: AAG41674.1.
AY116023 mRNA. Translation: AAM48282.1.
BC132157 mRNA. Translation: AAI32158.1.
BC132159 mRNA. Translation: AAI32160.1.
CCDSiCCDS19719.1.
RefSeqiNP_444496.1. NM_053266.1.
UniGeneiMm.218744.

Genome annotation databases

EnsembliENSMUST00000016086; ENSMUSP00000016086; ENSMUSG00000015942.
GeneIDi114674.
KEGGimmu:114674.
UCSCiuc008zve.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY014963 mRNA. Translation: AAG41674.1.
AY116023 mRNA. Translation: AAM48282.1.
BC132157 mRNA. Translation: AAI32158.1.
BC132159 mRNA. Translation: AAI32160.1.
CCDSiCCDS19719.1.
RefSeqiNP_444496.1. NM_053266.1.
UniGeneiMm.218744.

3D structure databases

ProteinModelPortaliQ99NI3.
SMRiQ99NI3. Positions 104-191, 314-411.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000016086.

PTM databases

iPTMnetiQ99NI3.
PhosphoSiteiQ99NI3.

Proteomic databases

EPDiQ99NI3.
MaxQBiQ99NI3.
PaxDbiQ99NI3.
PeptideAtlasiQ99NI3.
PRIDEiQ99NI3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000016086; ENSMUSP00000016086; ENSMUSG00000015942.
GeneIDi114674.
KEGGimmu:114674.
UCSCiuc008zve.1. mouse.

Organism-specific databases

CTDi84163.
MGIiMGI:2149780. Gtf2ird2.

Phylogenomic databases

eggNOGiENOG410IFRD. Eukaryota.
ENOG410XPSC. LUCA.
GeneTreeiENSGT00760000119070.
HOGENOMiHOG000112830.
HOVERGENiHBG107971.
InParanoidiQ99NI3.
OMAiNSVNWIC.
OrthoDBiEOG700892.
PhylomeDBiQ99NI3.
TreeFamiTF352524.

Miscellaneous databases

PROiQ99NI3.
SOURCEiSearch...

Gene expression databases

BgeeiQ99NI3.
CleanExiMM_GTF2IRD2.
ExpressionAtlasiQ99NI3. baseline and differential.
GenevisibleiQ99NI3. MM.

Family and domain databases

Gene3Di3.90.1460.10. 2 hits.
InterProiIPR004212. GTF2I.
[Graphical view]
PfamiPF02946. GTF2I. 2 hits.
[Graphical view]
SUPFAMiSSF117773. SSF117773. 2 hits.
PROSITEiPS51139. GTF2I. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome."
    Tipney H.J., Hinsley T.A., Brass A., Metcalfe K., Donnai D., Tassabehji M.
    Eur. J. Hum. Genet. 12:551-560(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Strain: C57BL/6J.
  2. "GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats."
    Makeyev A.V., Erdenechimeg L., Mungunsukh O., Roth J.J., Enkhmandakh B., Ruddle F.H., Bayarsaihan D.
    Proc. Natl. Acad. Sci. U.S.A. 101:11052-11057(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  4. "TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome."
    Ohazama A., Sharpe P.T.
    Dev. Dyn. 236:2884-2888(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiGT2D2_MOUSE
AccessioniPrimary (citable) accession number: Q99NI3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 1, 2001
Last modified: July 6, 2016
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.