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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: Annotation score: 3 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

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

HGNCiHGNC:33125. GTF2IRD2B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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).

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

PharmGKBiPA162390444.

Polymorphism and mutation databases

BioMutaiGTF2IRD2B.
DMDMi74709247.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 949949General transcription factor II-I repeat domain-containing protein 2BPRO_0000320121Add
BLAST

Proteomic databases

EPDiQ6EKJ0.
MaxQBiQ6EKJ0.
PaxDbiQ6EKJ0.
PeptideAtlasiQ6EKJ0.
PRIDEiQ6EKJ0.

PTM databases

iPTMnetiQ6EKJ0.
PhosphoSiteiQ6EKJ0.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ6EKJ0.
ExpressionAtlasiQ6EKJ0. baseline and differential.
GenevisibleiQ6EKJ0. HS.

Interactioni

Protein-protein interaction databases

BioGridi133172. 3 interactions.
STRINGi9606.ENSP00000308080.

Structurei

Secondary structure

1
949
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi108 – 12316Combined sources
Helixi133 – 1386Combined sources
Beta strandi140 – 1478Combined sources
Turni157 – 1593Combined sources
Helixi162 – 1709Combined sources
Beta strandi176 – 1794Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E3LNMR-A107-192[»]
ProteinModelPortaliQ6EKJ0.
SMRiQ6EKJ0. Positions 107-194, 318-415.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6EKJ0.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati98 – 19295GTF2I-like 1Add
BLAST
Repeati323 – 41795GTF2I-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.
InParanoidiQ6EKJ0.
OMAiNSVNWIC.
OrthoDBiEOG700892.
PhylomeDBiQ6EKJ0.
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 (2)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence BAB15060.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAC04576.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti768 – 7681I → V in BAC04576 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei209 – 22618SCGPI…DSGIS → RHFTESRSCLSQERIRRS in isoform 2. 1 PublicationVSP_031605Add
BLAST
Alternative sequencei227 – 949723Missing in isoform 2. 1 PublicationVSP_031606Add
BLAST

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

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
EntryMethodResolution (Å)ChainPositionsPDBsum
2E3LNMR-A107-192[»]
ProteinModelPortaliQ6EKJ0.
SMRiQ6EKJ0. Positions 107-194, 318-415.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133172. 3 interactions.
STRINGi9606.ENSP00000308080.

PTM databases

iPTMnetiQ6EKJ0.
PhosphoSiteiQ6EKJ0.

Polymorphism and mutation databases

BioMutaiGTF2IRD2B.
DMDMi74709247.

Proteomic databases

EPDiQ6EKJ0.
MaxQBiQ6EKJ0.
PaxDbiQ6EKJ0.
PeptideAtlasiQ6EKJ0.
PRIDEiQ6EKJ0.

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.
GeneCardsiGTF2IRD2B.
HGNCiHGNC:33125. GTF2IRD2B.
MIMi608900. gene.
neXtProtiNX_Q6EKJ0.
PharmGKBiPA162390444.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFRD. Eukaryota.
ENOG410XPSC. LUCA.
GeneTreeiENSGT00760000119070.
HOGENOMiHOG000112830.
HOVERGENiHBG107971.
InParanoidiQ6EKJ0.
OMAiNSVNWIC.
OrthoDBiEOG700892.
PhylomeDBiQ6EKJ0.
TreeFamiTF352524.

Miscellaneous databases

EvolutionaryTraceiQ6EKJ0.
GenomeRNAii389524.
PROiQ6EKJ0.
SOURCEiSearch...

Gene expression databases

BgeeiQ6EKJ0.
ExpressionAtlasiQ6EKJ0. baseline and differential.
GenevisibleiQ6EKJ0. 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...

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] (ISOFORM 1).
  2. "Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome."
    Hinsley T.A., Cunliffe P., Tipney H.J., Brass A., Tassabehji M.
    Protein Sci. 13:2588-2599(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  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] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 246-949 (ISOFORM 1).
    Tissue: Brain and Colon.
  5. "Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension."
    Del Campo M., Antonell A., Magano L.F., Munoz F.J., Flores R., Bayes M., Perez Jurado L.A.
    Am. J. Hum. Genet. 78:533-542(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: POTENTIAL INVOLVEMENT IN WILLIAMS-BEUREN SYNDROME.
  6. "Solution structure of RSGI RUH-068, a GTF2I domain in human cDNA."
    RIKEN structural genomics initiative (RSGI)
    Submitted (MAY-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 107-192.

Entry informationi

Entry nameiGTD2B_HUMAN
AccessioniPrimary (citable) accession number: Q6EKJ0
Secondary accession number(s): B2RNE9
, Q69GU6, Q8N979, Q9H739
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: August 16, 2004
Last modified: July 6, 2016
This is version 104 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. 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.