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UniProtKB - Q99967 (CITE2_HUMAN)

Entry version 186 (02 Dec 2020)
Sequence version 2 (20 Jun 2002)
Previous versions | rss
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Protein

Cbp/p300-interacting transactivator 2

Gene

CITED2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 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

Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region.3 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionActivator, Developmental protein, Repressor
Biological processDifferentiation, Stress response, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q99967

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1234158, Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-8866906, TFAP2 (AP-2) family regulates transcription of other transcription factors
R-HSA-8866907, Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-9614657, FOXO-mediated transcription of cell death genes

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99967

<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:
Cbp/p300-interacting transactivator 2
Alternative name(s):
MSG-related protein 1
Short name:
MRG-1
P35srj
<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:CITED2
Synonyms:MRG1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 6

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000164442.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:1987, CITED2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602937, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99967

<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

Ventricular septal defect 2 (VSD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Related information in OMIM
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_067583170 – 178Missing in VSD2; reduces coactivation of the TFAP2C gene to 50% of that obtained with wild-type and represses HIF1A with about 60% efficiency compared to wild-type. 1 Publication9
Atrial septal defect 8 (ASD8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067584179S → GGSSTPGGS in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1
Natural variantiVAR_067585198 – 199Missing in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1 Publication2

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi243 – 246Missing : Inhibits transactivation activity. 1 Publication4
Mutagenesisi243L → E: Inhibits transactivation activity; when associated with E-246. 1 Publication1
Mutagenesisi246L → E: Inhibits transactivation activity; when associated with E-243. 1 Publication1

Keywords - Diseasei

Atrial septal defect, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10370

MalaCards human disease database

More...MalaCardsi		CITED2
MIMi614431, phenotype
614433, phenotype

Open Targets

More...OpenTargetsi		ENSG00000164442

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99103, Atrial septal defect, ostium secundum type
99105, Atrial septal defect, sinus venosus type
1480, NON RARE IN EUROPE: Ventricular septal defect
101063, Situs inversus totalis
3303, Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26524

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q99967, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CITED2

Domain mapping of disease mutations (DMDM)

More...DMDMi		21542403

<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_00001447261 – 270Cbp/p300-interacting transactivator 2Add BLAST270

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q99967

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

More...PaxDbi		Q99967

PeptideAtlas

More...PeptideAtlasi		Q99967

PRoteomics IDEntifications database

More...PRIDEi		Q99967

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78555 [Q99967-1]
78556 [Q99967-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99967

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

More...PhosphoSitePlusi		Q99967

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By hypoxia and deferoxamine.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000164442, Expressed in female gonad and 240 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99967, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99967, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000164442, 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">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with SMAD2.

Interacts (via C-terminus) with SMAD3 (via MH2 domain).

Interacts with LHX2 (via LIM domains).

Interacts with WT1 (By similarity).

Interacts (via C-terminus) with EP300 (via CH1 domain); the interaction is stimulated in response to hypoxia.

Interacts with PPARA.

Interacts (via C-terminus) with TFAP2A, TFAP2B and TFAP2C.

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115649, 15 interactors

Protein interaction database and analysis system

More...IntActi		Q99967, 7 interactors

Molecular INTeraction database

More...MINTi		Q99967

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000444198

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q99967, 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

Secondary structure

1270
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q99967

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q99967

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi21 – 57His-richAdd BLAST37
Compositional biasi162 – 199Gly-richAdd BLAST38
Compositional biasi219 – 258Asp/Glu-rich (acidic)Add BLAST40

<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 CITED family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSRC, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_090678_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99967

Database of Orthologous Groups

More...OrthoDBi		1378769at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99967

TreeFam database of animal gene trees

More...TreeFami		TF331915

Family and domain databases

Database of protein disorder

More...DisProti		DP00356

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00179

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007576, CITED

The PANTHER Classification System

More...PANTHERi		PTHR17045, PTHR17045, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04487, CITED, 1 hit

<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 (2+)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 2 <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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99967-1) [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
MADHMMAMNH GRFPDGTNGL HHHPAHRMGM GQFPSPHHHQ QQQPQHAFNA 
        60         70         80         90        100
LMGEHIHYGA GNMNATSGIR HAMGPGTVNG GHPPSALAPA ARFNNSQFMG 
       110        120        130        140        150
PPVASQGGSL PASMQLQKLN NQYFNHHPYP HNHYMPDLHP AAGHQMNGTN 
       160        170        180        190        200
QHFRDCNPKH SGGSSTPGGS GGSSTPGGSG SSSGGGAGSS NSGGGSGSGN 
       210        220        230        240        250
MPASVAHVPA AMLPPNVIDT DFIDEEVLMS LVIEMGLDRI KELPELWLGQ 
       260        270
NEFDFMTDFV CKQQPSRVSC
Length:270
Mass (Da):28,497
Last modified:June 20, 2002 - v2
<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:i45DDE3A9E2B4C472
GO
Isoform 2 (identifier: Q99967-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-215: Missing.

Show »
Length:213
Mass (Da):23,732
Checksum:iC91FAABA3D2A9AD1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTM3A0A0A0MTM3_HUMAN
Cbp/p300-interacting transactivator...
CITED2
275Annotation score:

Annotation score:5 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067583170 – 178Missing in VSD2; reduces coactivation of the TFAP2C gene to 50% of that obtained with wild-type and represses HIF1A with about 60% efficiency compared to wild-type. 1 Publication9
Natural variantiVAR_067584179S → GGSSTPGGS in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1
Natural variantiVAR_067585198 – 199Missing in ASD8; demonstrates only about 75% of the repressive activity of wild-type. 1 Publication2

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_001089159 – 215Missing in isoform 2. 1 PublicationAdd BLAST57

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
U65093 mRNA Translation: AAC51114.1
AF129290 Genomic DNA Translation: AAF01263.1
AF129290 Genomic DNA Translation: AAF01264.1
AF109161 mRNA Translation: AAD10055.1
AL592429 Genomic DNA No translation available.
BC004377 mRNA Translation: AAH04377.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5195.1 [Q99967-1]

NCBI Reference Sequences

More...RefSeqi		NP_001161860.1, NM_001168388.2 [Q99967-1]
NP_001161861.2, NM_001168389.2
NP_006070.2, NM_006079.4 [Q99967-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000367651; ENSP00000356623; ENSG00000164442 [Q99967-1]
ENST00000536159; ENSP00000442831; ENSG00000164442 [Q99967-1]
ENST00000618718; ENSP00000479918; ENSG00000164442 [Q99967-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10370

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10370

UCSC genome browser

More...UCSCi		uc003qip.3, human [Q99967-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U65093 mRNA Translation: AAC51114.1
AF129290 Genomic DNA Translation: AAF01263.1
AF129290 Genomic DNA Translation: AAF01264.1
AF109161 mRNA Translation: AAD10055.1
AL592429 Genomic DNA No translation available.
BC004377 mRNA Translation: AAH04377.1
CCDSiCCDS5195.1 [Q99967-1]
RefSeqiNP_001161860.1, NM_001168388.2 [Q99967-1]
NP_001161861.2, NM_001168389.2
NP_006070.2, NM_006079.4 [Q99967-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1P4QNMR-A216-259[»]
1R8UNMR-A220-269[»]
SMRiQ99967
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115649, 15 interactors
IntActiQ99967, 7 interactors
MINTiQ99967
STRINGi9606.ENSP00000444198

PTM databases

iPTMnetiQ99967
PhosphoSitePlusiQ99967

Polymorphism and mutation databases

BioMutaiCITED2
DMDMi21542403

Proteomic databases

MassIVEiQ99967
PaxDbiQ99967
PeptideAtlasiQ99967
PRIDEiQ99967
ProteomicsDBi78555 [Q99967-1]
78556 [Q99967-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4252, 262 antibodies

The DNASU plasmid repository

More...DNASUi		10370

Genome annotation databases

EnsembliENST00000367651; ENSP00000356623; ENSG00000164442 [Q99967-1]
ENST00000536159; ENSP00000442831; ENSG00000164442 [Q99967-1]
ENST00000618718; ENSP00000479918; ENSG00000164442 [Q99967-2]
GeneIDi10370
KEGGihsa:10370
UCSCiuc003qip.3, human [Q99967-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10370
DisGeNETi10370
EuPathDBiHostDB:ENSG00000164442.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		CITED2
HGNCiHGNC:1987, CITED2
HPAiENSG00000164442, Low tissue specificity
MalaCardsiCITED2
MIMi602937, gene
614431, phenotype
614433, phenotype
neXtProtiNX_Q99967
OpenTargetsiENSG00000164442
Orphaneti99103, Atrial septal defect, ostium secundum type
99105, Atrial septal defect, sinus venosus type
1480, NON RARE IN EUROPE: Ventricular septal defect
101063, Situs inversus totalis
3303, Tetralogy of Fallot
PharmGKBiPA26524

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSRC, Eukaryota
GeneTreeiENSGT00530000063624
HOGENOMiCLU_090678_0_0_1
InParanoidiQ99967
OrthoDBi1378769at2759
PhylomeDBiQ99967
TreeFamiTF331915

Enzyme and pathway databases

PathwayCommonsiQ99967
ReactomeiR-HSA-1234158, Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-8866906, TFAP2 (AP-2) family regulates transcription of other transcription factors
R-HSA-8866907, Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-9614657, FOXO-mediated transcription of cell death genes
SIGNORiQ99967

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10370, 52 hits in 849 CRISPR screens

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

More...ChiTaRSi		CITED2, human
EvolutionaryTraceiQ99967

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CITED2

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

More...GenomeRNAii		10370
PharosiQ99967, Tbio

Protein Ontology

More...PROi		PR:Q99967
RNActiQ99967, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164442, Expressed in female gonad and 240 other tissues
ExpressionAtlasiQ99967, baseline and differential
GenevisibleiQ99967, HS

Family and domain databases

DisProtiDP00356
IDEALiIID00179
InterProiView protein in InterPro
IPR007576, CITED
PANTHERiPTHR17045, PTHR17045, 1 hit
PfamiView protein in Pfam
PF04487, CITED, 1 hit

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 nameiCITE2_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: Q99967
Secondary accession number(s): O95426, Q5VTF4
<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: December 15, 1998
Last sequence update: June 20, 2002
Last modified: December 2, 2020
This is version 186 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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