Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 133 (17 Jun 2020)
Sequence version 3 (12 Sep 2018)
Previous versions | rss
Help videoAdd a publicationFeedback
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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GTF2IRD2
Synonyms:GTF2IRD2A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000196275.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30775 GTF2IRD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608899 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86UP8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
84163

Open Targets

More...
OpenTargetsi
ENSG00000196275

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162390407

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86UP8 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GTF2IRD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
187607027

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003201201 – 949General transcription factor II-I repeat domain-containing protein 2AAdd BLAST949

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86UP8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q86UP8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86UP8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86UP8

PeptideAtlas

More...
PeptideAtlasi
Q86UP8

PRoteomics IDEntifications database

More...
PRIDEi
Q86UP8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69851 [Q86UP8-1]
69852 [Q86UP8-2]
69853 [Q86UP8-3]
69854 [Q86UP8-4]
69855 [Q86UP8-5]
69856 [Q86UP8-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86UP8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86UP8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000196275 Expressed in left lobe of thyroid gland and 92 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86UP8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86UP8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000196275 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
123920, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q86UP8, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000406723

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q86UP8 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q86UP8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati98 – 192GTF2I-like 1Add BLAST95
Repeati323 – 417GTF2I-like 2Add BLAST95

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TFII-I family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFRD Eukaryota
ENOG410XPSC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_176658_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86UP8

Database of Orthologous Groups

More...
OrthoDBi
788135at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86UP8

TreeFam database of animal gene trees

More...
TreeFami
TF352524

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.90.1460.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004212 GTF2I
IPR036647 GTF2I-like_rpt_sf
IPR042224 GTF2IRD2
IPR012337 RNaseH-like_sf

The PANTHER Classification System

More...
PANTHERi
PTHR47831 PTHR47831, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02946 GTF2I, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117773 SSF117773, 2 hits
SSF53098 SSF53098, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51139 GTF2I, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q86UP8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

Show »
Length:496
Mass (Da):57,182
Checksum:iC23D7F393BD243E9
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039127514N → H2 PublicationsCorresponds to variant dbSNP:rs2529318Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5576.1 [Q86UP8-1]
CCDS64682.1 [Q86UP8-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001268376.1, NM_001281447.1 [Q86UP8-4]
NP_775808.3, NM_173537.3 [Q86UP8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000451013; ENSP00000406723; ENSG00000196275 [Q86UP8-1]
ENST00000614386; ENSP00000481017; ENSG00000196275 [Q86UP8-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84163

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84163

UCSC genome browser

More...
UCSCi
uc003ubh.5 human [Q86UP8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 [Q86UP8-1]

3D structure databases

SMRiQ86UP8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123920, 7 interactors
IntActiQ86UP8, 10 interactors
STRINGi9606.ENSP00000406723

PTM databases

iPTMnetiQ86UP8
PhosphoSitePlusiQ86UP8

Polymorphism and mutation databases

BioMutaiGTF2IRD2
DMDMi187607027

Proteomic databases

EPDiQ86UP8
jPOSTiQ86UP8
MassIVEiQ86UP8
PaxDbiQ86UP8
PeptideAtlasiQ86UP8
PRIDEiQ86UP8
ProteomicsDBi69851 [Q86UP8-1]
69852 [Q86UP8-2]
69853 [Q86UP8-3]
69854 [Q86UP8-4]
69855 [Q86UP8-5]
69856 [Q86UP8-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
28921 67 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84163
DisGeNETi84163
EuPathDBiHostDB:ENSG00000196275.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GTF2IRD2
HGNCiHGNC:30775 GTF2IRD2
HPAiENSG00000196275 Low tissue specificity
MIMi608899 gene
neXtProtiNX_Q86UP8
OpenTargetsiENSG00000196275
PharmGKBiPA162390407

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFRD Eukaryota
ENOG410XPSC LUCA
GeneTreeiENSGT00940000162266
HOGENOMiCLU_176658_0_0_1
InParanoidiQ86UP8
OrthoDBi788135at2759
PhylomeDBiQ86UP8
TreeFamiTF352524

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
84163 54 hits in 739 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GTF2IRD2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
84163
PharosiQ86UP8 Tbio

Protein Ontology

More...
PROi
PR:Q86UP8
RNActiQ86UP8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196275 Expressed in left lobe of thyroid gland and 92 other tissues
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
IPR042224 GTF2IRD2
IPR012337 RNaseH-like_sf
PANTHERiPTHR47831 PTHR47831, 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGTD2A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86UP8
Secondary accession number(s): A0A0A0MSY2
, A8K5W6, B3KUZ2, Q69G40, Q6EKI8, Q6EKI9, Q6NVW2, Q6P7N8, Q86WX4, Q8ND85, Q8NDE5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 12, 2018
Last modified: June 17, 2020
This is version 133 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again