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Protein

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

Gene

GTF2IRD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33110-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor II-I repeat domain-containing protein 2A
Short name:
GTF2I repeat domain-containing protein 2A
Alternative name(s):
Transcription factor GTF2IRD2-alpha
Gene namesi
Name:GTF2IRD2
Synonyms:GTF2IRD2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:30775. GTF2IRD2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

GTF2IRD2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:16532385).

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi84163.
OpenTargetsiENSG00000174428.
ENSG00000196275.
PharmGKBiPA162390407.

Polymorphism and mutation databases

DMDMi187607027.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003201201 – 949General transcription factor II-I repeat domain-containing protein 2AAdd BLAST949

Proteomic databases

MaxQBiQ86UP8.
PaxDbiQ86UP8.
PeptideAtlasiQ86UP8.
PRIDEiQ86UP8.

PTM databases

iPTMnetiQ86UP8.
PhosphoSitePlusiQ86UP8.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000196275.
ExpressionAtlasiQ86UP8. baseline and differential.
GenevisibleiQ86UP8. HS.

Organism-specific databases

HPAiCAB004254.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TRIM54Q9BYV23EBI-6425928,EBI-2130429

Protein-protein interaction databases

BioGridi123920. 5 interactors.
IntActiQ86UP8. 9 interactors.
STRINGi9606.ENSP00000385491.

Structurei

3D structure databases

ProteinModelPortaliQ86UP8.
SMRiQ86UP8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati98 – 192GTF2I-like 1Add BLAST95
Repeati323 – 417GTF2I-like 2Add BLAST95

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.
GeneTreeiENSGT00860000133692.
HOVERGENiHBG107971.
InParanoidiQ86UP8.
PhylomeDBiQ86UP8.
TreeFamiTF352524.

Family and domain databases

Gene3Di3.90.1460.10. 2 hits.
InterProiIPR004212. GTF2I.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamiPF02946. GTF2I. 2 hits.
[Graphical view]
SUPFAMiSSF117773. SSF117773. 2 hits.
SSF53098. SSF53098. 1 hit.
PROSITEiPS51139. GTF2I. 2 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86UP8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQVAVSTLP VEEESSSETR MVVTFLVSAL ESMCKELAKS KAEVACIAVY
60 70 80 90 100
ETDVFVVGTE RGCAFVNART DFQKDFAKYC VAEGLCEVKP PCPVNGMQVH
110 120 130 140 150
SGETEILRKA VEDYFCFCYG KALGTTVMVP VPYEKMLRDQ SAVVVQGLPE
160 170 180 190 200
GVAFQHPENY DLATLKWILE NKAGISFIIN RPFLGPESQL GGPGMVTDAE
210 220 230 240 250
RSIVSPSESC GPINVKTEPM EDSGISLKAE AVSVKKESED PNYYQYNMQG
260 270 280 290 300
SHPSSTSNEV IEMELPMEDS TPLVPSEEPN EDPEAEVKIE GNTNSSSVTN
310 320 330 340 350
SAAGVEDLNI VQVTVPDNEK ERLSSIEKIK QLREQVNDLF SRKFGEAIGV
360 370 380 390 400
DFPVKVPYRK ITFNPGCVVI DGMPPGVVFK APGYLEISSM RRILEAAEFI
410 420 430 440 450
KFTVIRPLPG LELSNVGKRK IDQEGRVFQE KWERAYFFVE VQNIPTCLIC
460 470 480 490 500
KQSMSVSKEY NLRRHYQTNH SKHYDQYMER MRDEKLHELK KGLRKYLLGL
510 520 530 540 550
SDTECPEQKQ VFAHPSPTQK SPVQPVEDLA GNLWEKLREK IRSFVAYSIA
560 570 580 590 600
IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFSRVE
610 620 630 640 650
KSLKKFCIDW SKLVSVASTG TPAMVDANNG LVTKLKSRVA TFCKGAELKS
660 670 680 690 700
ICCIIHPESL CAQKLKMDHV MDVVVKSVNW ICSRGLNHSE FTTLLYELDS
710 720 730 740 750
QYGSLLYYTE IKWLSRGLVL KRFFESLEEI DSFMSSRGKP LPQLSSIDWI
760 770 780 790 800
RDLAFLVDMT MHLNALNISL QGHSQIVTQM YDLIRAFLAK LCLWETHLTR
810 820 830 840 850
NNLAHFPTLK LASRNESDGL NYIPKIAELK TEFQKRLSDF KLYESELTLF
860 870 880 890 900
SSPFSTKIDS VHEELQMEVI DLQCNTVLKT KYDKVGIPEF YKYLWGSYPK
910 920 930 940
YKHHCAKILS MFGSTYICEQ LFSIMKLSKT KYCSQLKDSQ WDSVLHIAT
Length:949
Mass (Da):107,231
Last modified:February 26, 2008 - v2
Checksum:i4C74AFB800E8A26A
GO
Isoform 2 (identifier: Q86UP8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-949: Missing.

Show »
Length:181
Mass (Da):19,949
Checksum:i80ACE9CC0FC39526
GO
Isoform 3 (identifier: Q86UP8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     416-498: VGKRKIDQEG...LKKGLRKYLL → GLLEAGAGGL...SLGDRTRPCL
     499-949: Missing.

Note: No experimental confirmation available.
Show »
Length:498
Mass (Da):54,447
Checksum:i6D90893BBAB149DF
GO
Isoform 4 (identifier: Q86UP8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-108: VAEGLCEVKPPCPVNGMQVHSGETEILR → RCFNFILCIPNLKRIAGKTSTVFSSKLS
     109-949: Missing.

Show »
Length:108
Mass (Da):11,894
Checksum:i748FB7A6A31BC1F8
GO
Isoform 5 (identifier: Q86UP8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-256: ISLKAEAVSVKKESEDPNYYQYNMQGSHPSST → GYQDAFRIKYRPSVVAHACNPSNLGGRGRRIT
     257-949: Missing.

Show »
Length:256
Mass (Da):27,878
Checksum:i161DCC3B76D08C35
GO
Isoform 6 (identifier: Q86UP8-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-453: Missing.

Note: No experimental confirmation available.
Show »
Length:496
Mass (Da):57,245
Checksum:i286B940CABA2D410
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39K → E in AAP14955 (PubMed:15243160).Curated1
Sequence conflicti39K → E in AAR36866 (PubMed:15388857).Curated1
Sequence conflicti39K → E in AAH47706 (PubMed:15489334).Curated1
Sequence conflicti500L → S in BAF84120 (PubMed:14702039).Curated1
Sequence conflicti716R → C in CAD38861 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039127514H → N.3 PublicationsCorresponds to variant rs2529318dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0315971 – 453Missing in isoform 6. 1 PublicationAdd BLAST453
Alternative sequenceiVSP_03159881 – 108VAEGL…TEILR → RCFNFILCIPNLKRIAGKTS TVFSSKLS in isoform 4. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_031599109 – 949Missing in isoform 4. 2 PublicationsAdd BLAST841
Alternative sequenceiVSP_031600182 – 949Missing in isoform 2. 2 PublicationsAdd BLAST768
Alternative sequenceiVSP_031601225 – 256ISLKA…HPSST → GYQDAFRIKYRPSVVAHACN PSNLGGRGRRIT in isoform 5. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_031602257 – 949Missing in isoform 5. 2 PublicationsAdd BLAST693
Alternative sequenceiVSP_031603416 – 498VGKRK…RKYLL → GLLEAGAGGLLEAGSLRPAW ATWQDPISTKNLKISWKQWL TPVAPATWQAEAGGSLELRS LRQQRTIIAILHSSLGDRTR PCL in isoform 3. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_031604499 – 949Missing in isoform 3. 1 PublicationAdd BLAST451

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY312853 mRNA. Translation: AAQ19673.1.
AY312854 mRNA. Translation: AAQ19674.1.
AY260739 mRNA. Translation: AAP14955.1.
AY336979 mRNA. Translation: AAR36865.1.
AY336980 mRNA. Translation: AAR36866.1.
AY336981 mRNA. Translation: AAR36867.1.
AK098269 mRNA. Translation: BAG53604.1.
AK291431 mRNA. Translation: BAF84120.1.
AL833932 mRNA. Translation: CAD38788.2.
AL834153 mRNA. Translation: CAD38861.1.
BC047706 mRNA. Translation: AAH47706.1.
BC061590 mRNA. Translation: AAH61590.1.
BC067859 mRNA. Translation: AAH67859.1.
CCDSiCCDS5576.1. [Q86UP8-1]
CCDS64682.1. [Q86UP8-4]
RefSeqiNP_001268376.1. NM_001281447.1. [Q86UP8-4]
NP_775808.3. NM_173537.3.
UniGeneiHs.647017.
Hs.647039.

Genome annotation databases

EnsembliENST00000614386; ENSP00000481017; ENSG00000196275. [Q86UP8-4]
GeneIDi84163.
KEGGihsa:84163.
UCSCiuc003ubh.5. human. [Q86UP8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY312853 mRNA. Translation: AAQ19673.1.
AY312854 mRNA. Translation: AAQ19674.1.
AY260739 mRNA. Translation: AAP14955.1.
AY336979 mRNA. Translation: AAR36865.1.
AY336980 mRNA. Translation: AAR36866.1.
AY336981 mRNA. Translation: AAR36867.1.
AK098269 mRNA. Translation: BAG53604.1.
AK291431 mRNA. Translation: BAF84120.1.
AL833932 mRNA. Translation: CAD38788.2.
AL834153 mRNA. Translation: CAD38861.1.
BC047706 mRNA. Translation: AAH47706.1.
BC061590 mRNA. Translation: AAH61590.1.
BC067859 mRNA. Translation: AAH67859.1.
CCDSiCCDS5576.1. [Q86UP8-1]
CCDS64682.1. [Q86UP8-4]
RefSeqiNP_001268376.1. NM_001281447.1. [Q86UP8-4]
NP_775808.3. NM_173537.3.
UniGeneiHs.647017.
Hs.647039.

3D structure databases

ProteinModelPortaliQ86UP8.
SMRiQ86UP8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123920. 5 interactors.
IntActiQ86UP8. 9 interactors.
STRINGi9606.ENSP00000385491.

PTM databases

iPTMnetiQ86UP8.
PhosphoSitePlusiQ86UP8.

Polymorphism and mutation databases

DMDMi187607027.

Proteomic databases

MaxQBiQ86UP8.
PaxDbiQ86UP8.
PeptideAtlasiQ86UP8.
PRIDEiQ86UP8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614386; ENSP00000481017; ENSG00000196275. [Q86UP8-4]
GeneIDi84163.
KEGGihsa:84163.
UCSCiuc003ubh.5. human. [Q86UP8-1]

Organism-specific databases

CTDi84163.
DisGeNETi84163.
GeneCardsiGTF2IRD2.
H-InvDBHIX0022225.
HGNCiHGNC:30775. GTF2IRD2.
HPAiCAB004254.
MIMi608899. gene.
neXtProtiNX_Q86UP8.
OpenTargetsiENSG00000174428.
ENSG00000196275.
PharmGKBiPA162390407.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFRD. Eukaryota.
ENOG410XPSC. LUCA.
GeneTreeiENSGT00860000133692.
HOVERGENiHBG107971.
InParanoidiQ86UP8.
PhylomeDBiQ86UP8.
TreeFamiTF352524.

Enzyme and pathway databases

BioCyciZFISH:G66-33110-MONOMER.

Miscellaneous databases

GenomeRNAii84163.
PROiQ86UP8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196275.
ExpressionAtlasiQ86UP8. baseline and differential.
GenevisibleiQ86UP8. HS.

Family and domain databases

Gene3Di3.90.1460.10. 2 hits.
InterProiIPR004212. GTF2I.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamiPF02946. GTF2I. 2 hits.
[Graphical view]
SUPFAMiSSF117773. SSF117773. 2 hits.
SSF53098. SSF53098. 1 hit.
PROSITEiPS51139. GTF2I. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGTD2A_HUMAN
AccessioniPrimary (citable) accession number: Q86UP8
Secondary accession number(s): A8K5W6
, B3KUZ2, Q69G40, Q6EKI8, Q6EKI9, Q6NVW2, Q6P7N8, Q86WX4, Q8ND85, Q8NDE5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: November 30, 2016
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.