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Protein

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

Gene

GTF2IRD2B

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

Functioni

GO - Molecular functioni

GO - Biological processi

  • transition between fast and slow fiber Source: GO_Central

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

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

Organism-specific databases

EuPathDBiHostDB:ENSG00000174428.16
HGNCiHGNC:33125 GTF2IRD2B
MIMi608900 gene
neXtProtiNX_Q6EKJ0

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

GTF2IRD2B 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

PharmGKBiPA162390444

Polymorphism and mutation databases

BioMutaiGTF2IRD2B
DMDMi74709247

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003201211 – 949General transcription factor II-I repeat domain-containing protein 2BAdd BLAST949

Proteomic databases

EPDiQ6EKJ0
MaxQBiQ6EKJ0
PaxDbiQ6EKJ0
PeptideAtlasiQ6EKJ0
PRIDEiQ6EKJ0
ProteomicsDBi66283
66284 [Q6EKJ0-2]

PTM databases

iPTMnetiQ6EKJ0
PhosphoSitePlusiQ6EKJ0

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000174428 Expressed in 90 organ(s), highest expression level in right ovary
ExpressionAtlasiQ6EKJ0 baseline and differential
GenevisibleiQ6EKJ0 HS

Organism-specific databases

HPAiHPA056679
HPA056680

Interactioni

Protein-protein interaction databases

BioGridi133172, 3 interactors
IntActiQ6EKJ0, 1 interactor
STRINGi9606.ENSP00000308080

Structurei

Secondary structure

1949
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6EKJ0
SMRiQ6EKJ0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6EKJ0

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
HOGENOMiHOG000112830
HOVERGENiHBG107971
InParanoidiQ6EKJ0
OMAiNSVNWIC
OrthoDBiEOG091G0EGH
PhylomeDBiQ6EKJ0
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
IPR026625 TFII-I-rel
PANTHERiPTHR11697 PTHR11697, 1 hit
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 (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6EKJ0-1) [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 SKHYDQYTER MRDEKLHELK KGLRKYLLGS
510 520 530 540 550
SDTECPEQKQ VFANPSPTQK SPVQPVEDLA GNLWEKLREK IRSFVAYSIA
560 570 580 590 600
IDEITDINNT TQLAIFIRGV DENFDVSEEL LDTVPMTGTK SGNEIFLRVE
610 620 630 640 650
KSLKKFCINW SRLVSVASTG 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 LVSRNESDGL 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):107,233
Last modified:August 16, 2004 - v1
Checksum:iB7151DAB00FB68DA
GO
Isoform 2 (identifier: Q6EKJ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-226: SCGPINVKTEPMEDSGIS → RHFTESRSCLSQERIRRS
     227-949: Missing.

Show »
Length:226
Mass (Da):24,920
Checksum:iEDF0B3C3F2A06046
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SF80A0A0D9SF80_HUMAN
General transcription factor II-I r...
GTF2IRD2B GTF2IRD2
497Annotation score:
A0A087WW90A0A087WW90_HUMAN
General transcription factor II-I r...
GTF2IRD2B
437Annotation score:

Sequence cautioni

The sequence BAB15060 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC04576 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti768I → V in BAC04576 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031605209 – 226SCGPI…DSGIS → RHFTESRSCLSQERIRRS in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_031606227 – 949Missing in isoform 2. 1 PublicationAdd BLAST723

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY312850 mRNA Translation: AAR36863.1
AY312851 mRNA Translation: AAR36864.1
AK025076 mRNA Translation: BAB15060.1 Different initiation.
BC136849 mRNA Translation: AAI36850.1
AK095572 mRNA Translation: BAC04576.1 Different initiation.
CCDSiCCDS34659.1 [Q6EKJ0-1]
RefSeqiNP_001003795.1, NM_001003795.2 [Q6EKJ0-1]
UniGeneiHs.647017
Hs.647039

Genome annotation databases

EnsembliENST00000418185; ENSP00000411454; ENSG00000174428 [Q6EKJ0-2]
ENST00000472837; ENSP00000480524; ENSG00000174428 [Q6EKJ0-1]
GeneIDi389524
KEGGihsa:389524
UCSCiuc003ubt.4 human [Q6EKJ0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY312850 mRNA Translation: AAR36863.1
AY312851 mRNA Translation: AAR36864.1
AK025076 mRNA Translation: BAB15060.1 Different initiation.
BC136849 mRNA Translation: AAI36850.1
AK095572 mRNA Translation: BAC04576.1 Different initiation.
CCDSiCCDS34659.1 [Q6EKJ0-1]
RefSeqiNP_001003795.1, NM_001003795.2 [Q6EKJ0-1]
UniGeneiHs.647017
Hs.647039

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E3LNMR-A107-192[»]
ProteinModelPortaliQ6EKJ0
SMRiQ6EKJ0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133172, 3 interactors
IntActiQ6EKJ0, 1 interactor
STRINGi9606.ENSP00000308080

PTM databases

iPTMnetiQ6EKJ0
PhosphoSitePlusiQ6EKJ0

Polymorphism and mutation databases

BioMutaiGTF2IRD2B
DMDMi74709247

Proteomic databases

EPDiQ6EKJ0
MaxQBiQ6EKJ0
PaxDbiQ6EKJ0
PeptideAtlasiQ6EKJ0
PRIDEiQ6EKJ0
ProteomicsDBi66283
66284 [Q6EKJ0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000418185; ENSP00000411454; ENSG00000174428 [Q6EKJ0-2]
ENST00000472837; ENSP00000480524; ENSG00000174428 [Q6EKJ0-1]
GeneIDi389524
KEGGihsa:389524
UCSCiuc003ubt.4 human [Q6EKJ0-1]

Organism-specific databases

CTDi389524
EuPathDBiHostDB:ENSG00000174428.16
GeneCardsiGTF2IRD2B
HGNCiHGNC:33125 GTF2IRD2B
HPAiHPA056679
HPA056680
MIMi608900 gene
neXtProtiNX_Q6EKJ0
PharmGKBiPA162390444
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFRD Eukaryota
ENOG410XPSC LUCA
GeneTreeiENSGT00860000133692
HOGENOMiHOG000112830
HOVERGENiHBG107971
InParanoidiQ6EKJ0
OMAiNSVNWIC
OrthoDBiEOG091G0EGH
PhylomeDBiQ6EKJ0
TreeFamiTF352524

Miscellaneous databases

EvolutionaryTraceiQ6EKJ0
GenomeRNAii389524
PROiPR:Q6EKJ0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174428 Expressed in 90 organ(s), highest expression level in right ovary
ExpressionAtlasiQ6EKJ0 baseline and differential
GenevisibleiQ6EKJ0 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
IPR026625 TFII-I-rel
PANTHERiPTHR11697 PTHR11697, 1 hit
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 nameiGTD2B_HUMAN
AccessioniPrimary (citable) accession number: Q6EKJ0
Secondary accession number(s): B2RNE9
, Q69GU6, Q8N979, Q9H739
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: August 16, 2004
Last modified: November 7, 2018
This is version 115 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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