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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: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000196275.13
HGNCiHGNC:30775 GTF2IRD2
MIMi608899 gene
neXtProtiNX_Q86UP8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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).1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi84163
OpenTargetsiENSG00000196275
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

EPDiQ86UP8
MaxQBiQ86UP8
PaxDbiQ86UP8
PeptideAtlasiQ86UP8
PRIDEiQ86UP8
ProteomicsDBi69851
69852 [Q86UP8-2]
69853 [Q86UP8-3]
69854 [Q86UP8-4]
69855 [Q86UP8-5]
69856 [Q86UP8-6]

PTM databases

iPTMnetiQ86UP8
PhosphoSitePlusiQ86UP8

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000196275 Expressed in 93 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ86UP8 baseline and differential
GenevisibleiQ86UP8 HS

Organism-specific databases

HPAiHPA056679
HPA056680

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IFRD Eukaryota
ENOG410XPSC LUCA
GeneTreeiENSGT00860000133692
HOVERGENiHBG107971
InParanoidiQ86UP8
OrthoDBiEOG091G0EGH
PhylomeDBiQ86UP8
TreeFamiTF352524

Family and domain databases

Gene3Di3.90.1460.10, 2 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR012337 RNaseH-like_sf
PfamiView protein in Pfam
PF02946 GTF2I, 2 hits
SUPFAMiSSF117773 SSF117773, 2 hits
SSF53098 SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS51139 GTF2I, 2 hits

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 KGLRKYLLGS
510 520 530 540 550
SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK IRSFVAYSIA
560 570 580 590 600
IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFSRVE
610 620 630 640 650
KSLKNFCIDW 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 NYIPKIAELQ 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):107,168
Last modified:September 12, 2018 - v3
Checksum:iA622448D90983593
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.Curated
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.Curated
Show »
Length:496
Mass (Da):57,182
Checksum:iC23D7F393BD243E9
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 conflicti500S → L in AAQ19673 (PubMed:15100712).Curated1
Sequence conflicti500S → L in AAQ19674 (PubMed:15100712).Curated1
Sequence conflicti500S → L in AAP14955 (PubMed:15243160).Curated1
Sequence conflicti605N → K in AAQ19673 (PubMed:15100712).Curated1
Sequence conflicti605N → K in AAQ19674 (PubMed:15100712).Curated1
Sequence conflicti605N → K in AAP14955 (PubMed:15243160).Curated1
Sequence conflicti605N → K in BAF84120 (PubMed:12853948).Curated1
Sequence conflicti605N → K in CAD38788 (PubMed:14702039).Curated1
Sequence conflicti605N → K in CAD38861 (PubMed:14702039).Curated1
Sequence conflicti716R → C in CAD38861 (PubMed:14702039).Curated1
Sequence conflicti830Q → K in AAQ19673 (PubMed:15100712).Curated1
Sequence conflicti830Q → K in AAQ19674 (PubMed:15100712).Curated1
Sequence conflicti830Q → K in AAP14955 (PubMed:15243160).Curated1
Sequence conflicti830Q → K in BAF84120 (PubMed:12853948).Curated1
Sequence conflicti830Q → K in CAD38788 (PubMed:14702039).Curated1
Sequence conflicti830Q → K in CAD38861 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039127514N → H2 PublicationsCorresponds to variant dbSNP:rs2529318Ensembl.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
AC211424 Genomic DNA No translation available.
AC211433 Genomic DNA No translation available.
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

EnsembliENST00000451013; ENSP00000406723; ENSG00000196275 [Q86UP8-1]
ENST00000614386; ENSP00000481017; ENSG00000196275 [Q86UP8-4]
GeneIDi84163
KEGGihsa:84163
UCSCiuc003ubh.5 human [Q86UP8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
AC211424 Genomic DNA No translation available.
AC211433 Genomic DNA No translation available.
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

EPDiQ86UP8
MaxQBiQ86UP8
PaxDbiQ86UP8
PeptideAtlasiQ86UP8
PRIDEiQ86UP8
ProteomicsDBi69851
69852 [Q86UP8-2]
69853 [Q86UP8-3]
69854 [Q86UP8-4]
69855 [Q86UP8-5]
69856 [Q86UP8-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000451013; ENSP00000406723; ENSG00000196275 [Q86UP8-1]
ENST00000614386; ENSP00000481017; ENSG00000196275 [Q86UP8-4]
GeneIDi84163
KEGGihsa:84163
UCSCiuc003ubh.5 human [Q86UP8-1]

Organism-specific databases

CTDi84163
DisGeNETi84163
EuPathDBiHostDB:ENSG00000196275.13
GeneCardsiGTF2IRD2
H-InvDBiHIX0022225
HGNCiHGNC:30775 GTF2IRD2
HPAiHPA056679
HPA056680
MIMi608899 gene
neXtProtiNX_Q86UP8
OpenTargetsiENSG00000196275
PharmGKBiPA162390407
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFRD Eukaryota
ENOG410XPSC LUCA
GeneTreeiENSGT00860000133692
HOVERGENiHBG107971
InParanoidiQ86UP8
OrthoDBiEOG091G0EGH
PhylomeDBiQ86UP8
TreeFamiTF352524

Miscellaneous databases

GenomeRNAii84163
PROiPR:Q86UP8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196275 Expressed in 93 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiQ86UP8 baseline and differential
GenevisibleiQ86UP8 HS

Family and domain databases

Gene3Di3.90.1460.10, 2 hits
InterProiView protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR012337 RNaseH-like_sf
PfamiView protein in Pfam
PF02946 GTF2I, 2 hits
SUPFAMiSSF117773 SSF117773, 2 hits
SSF53098 SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS51139 GTF2I, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGTD2A_HUMAN
AccessioniPrimary (citable) accession number: Q86UP8
Secondary accession number(s): A0A0A0MSY2
, A8K5W6, B3KUZ2, Q69G40, Q6EKI8, Q6EKI9, Q6NVW2, Q6P7N8, Q86WX4, Q8ND85, Q8NDE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 12, 2018
Last modified: October 10, 2018
This is version 119 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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