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UniProtKB - P24468 (COT2_HUMAN)

Entry version 205 (07 Apr 2021)
Sequence version 1 (01 Mar 1992)
Previous versions | rss
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Protein

COUP transcription factor 2

Gene

NR2F2

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

Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779).4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi76 – 151Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri79 – 99NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri115 – 139NR C4-typePROSITE-ProRule annotationAdd BLAST25

<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, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P24468

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-381340, Transcriptional regulation of white adipocyte differentiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P24468

SIGNOR Signaling Network Open Resource

More...SIGNORi		P24468

<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:
COUP transcription factor 2
Short name:
COUP-TF2
Alternative name(s):
Apolipoprotein A-I regulatory protein 1
Short name:
ARP-1
COUP transcription factor II
Short name:
COUP-TF II
Nuclear receptor subfamily 2 group F member 2
<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:NR2F2
Synonyms:ARP1, TFCOUP2
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7976, NR2F2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		107773, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P24468

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000185551.12

<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

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

Congenital heart defects, multiple types, 4 (CHTD4)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.
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_07176675Q → QQ in CHTD4; the mutation results in reduced transcription activation of the EGR1 promoter; does not affect transcription activation of the APOB FT promoter. 1 Publication1
Natural variantiVAR_071767170D → V in CHTD4. 1 Publication1
Natural variantiVAR_071768205N → I in CHTD4; the mutation results in increased transcription activation of the EGR1 promoter; transcription activation of the APOB promoter is decreased. 1 PublicationCorresponds to variant dbSNP:rs587777372EnsemblClinVar.1
Natural variantiVAR_071769251E → D in CHTD4. 1 Publication1
Natural variantiVAR_071770341S → Y in CHTD4; the mutation results in reduced transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777371EnsemblClinVar.1
Natural variantiVAR_071771412A → S in CHTD4. 1 PublicationCorresponds to variant dbSNP:rs201527820Ensembl.1
46,XX sex reversal 5 (SRXX5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant.
Related information in OMIM

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>Mutagenesisi228R → E: Reduces transcription activation by 40%; when associated with R-398. 1 Publication1
Mutagenesisi249W → A: Reduces transcription activation by 50%; when associated with A-250. 1 Publication1
Mutagenesisi250S → A: Reduces transcription activation by 50%; when associated with A-249. 1 Publication1
Mutagenesisi250S → W: Reduces transcription activation by 50%. 1 Publication1
Mutagenesisi253 – 254FV → AA: Reduces transcription activation by 50%. 1 Publication2
Mutagenesisi269 – 270LL → AA: Reduces transcription activation by 50%. 2
Mutagenesisi364 – 365LL → AA: Reduces transcription activation by 80%. 1 Publication2
Mutagenesisi398D → R: Reduces transcription activation by 40%; when associated with E-228. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		7026

MalaCards human disease database

More...MalaCardsi		NR2F2
MIMi615779, phenotype
618901, phenotype

Open Targets

More...OpenTargetsi		ENSG00000185551

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

More...Orphaneti		99067, Complete atrioventricular septal defect with ventricular hypoplasia
99068, Complete atrioventricular septal defect-tetralogy of Fallot
1330, Partial atrioventricular septal defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31759

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P24468, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1961790

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NR2F2

Domain mapping of disease mutations (DMDM)

More...DMDMi		114203

<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_00000536061 – 414COUP transcription factor 2Add BLAST414

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei51PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P24468

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P24468

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P24468

MaxQB - The MaxQuant DataBase

More...MaxQBi		P24468

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

More...PaxDbi		P24468

PeptideAtlas

More...PeptideAtlasi		P24468

PRoteomics IDEntifications database

More...PRIDEi		P24468

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54206 [P24468-1]
54207 [P24468-2]
54208 [P24468-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P24468

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

More...PhosphoSitePlusi		P24468

<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. Expressed in the stromal cells of developing fetal ovaries (PubMed:29478779).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000185551, Expressed in female gonad and 255 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P24468, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P24468, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000185551, 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 with SQSTM1 (By similarity). Binds DNA as a dimer; homodimer or heterodimer with NR2F6.

Interacts with NCOA1, NCOA2, NCOA3 and PPARGC1A.

Interacts with ZFPM2 (By similarity).

By similarity

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112884, 83 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P24468

Database of interacting proteins

More...DIPi		DIP-29713N

Protein interaction database and analysis system

More...IntActi		P24468, 49 interactors

Molecular INTeraction database

More...MINTi		P24468

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377721

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P24468

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P24468, 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

1414
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		P24468

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		P24468

<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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini177 – 403NR LBDPROSITE-ProRule annotationAdd BLAST227

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni117 – 414Interaction with ZFPM2By similarityAdd BLAST298
Regioni337 – 414Important for dimerizationAdd BLAST78

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 biasi71 – 75Poly-Gln5

<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 nuclear hormone receptor family. NR2 subfamily.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri79 – 99NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri115 – 139NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3575, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157540

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007368_20_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P24468

Identification of Orthologs from Complete Genome Data

More...OMAi		NCAIDVQ

Database of Orthologous Groups

More...OrthoDBi		666130at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P24468

TreeFam database of animal gene trees

More...TreeFami		TF352097

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.565.10, 1 hit
3.30.50.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035500, NHR-like_dom_sf
IPR000536, Nucl_hrmn_rcpt_lig-bd
IPR001723, Nuclear_hrmn_rcpt
IPR001628, Znf_hrmn_rcpt
IPR013088, Znf_NHR/GATA

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00104, Hormone_recep, 1 hit
PF00105, zf-C4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00398, STRDHORMONER
PR00047, STROIDFINGER

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00430, HOLI, 1 hit
SM00399, ZnF_C4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48508, SSF48508, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51843, NR_LBD, 1 hit
PS00031, NUCLEAR_REC_DBD_1, 1 hit
PS51030, NUCLEAR_REC_DBD_2, 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 (3+)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 3 <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 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P24468-1) [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
MAMVVSTWRD PQDEVPGSQG SQASQAPPVP GPPPGAPHTP QTPGQGGPAS 
        60         70         80         90        100
TPAQTAAGGQ GGPGGPGSDK QQQQQHIECV VCGDKSSGKH YGQFTCEGCK 
       110        120        130        140        150
SFFKRSVRRN LSYTCRANRN CPIDQHHRNQ CQYCRLKKCL KVGMRREAVQ 
       160        170        180        190        200
RGRMPPTQPT HGQFALTNGD PLNCHSYLSG YISLLLRAEP YPTSRFGSQC 
       210        220        230        240        250
MQPNNIMGIE NICELAARML FSAVEWARNI PFFPDLQITD QVALLRLTWS 
       260        270        280        290        300
ELFVLNAAQC SMPLHVAPLL AAAGLHASPM SADRVVAFMD HIRIFQEQVE 
       310        320        330        340        350
KLKALHVDSA EYSCLKAIVL FTSDACGLSD VAHVESLQEK SQCALEEYVR 
       360        370        380        390        400
SQYPNQPTRF GKLLLRLPSL RTVSSSVIEQ LFFVRLVGKT PIETLIRDML 
       410 
LSGSSFNWPY MAIQ
Length:414
Mass (Da):45,571
Last modified:March 1, 1992 - v1
<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:iC24CB2E8C8A27E8C
GO
Isoform 2 (identifier: P24468-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-147: MAMVVSTWRD...KCLKVGMRRE → MQAVWDLEQGKYGF

Show »
Length:281
Mass (Da):31,484
Checksum:i038DD27B80868BB5
GO
Isoform 3 (identifier: P24468-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-153: Missing.

Show »
Length:261
Mass (Da):29,163
Checksum:i5526AD057E2A639E
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
H3BTC2H3BTC2_HUMAN
COUP transcription factor 2
NR2F2
93Annotation score:

Annotation score:1 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_07176675Q → QQ in CHTD4; the mutation results in reduced transcription activation of the EGR1 promoter; does not affect transcription activation of the APOB FT promoter. 1 Publication1
Natural variantiVAR_071767170D → V in CHTD4. 1 Publication1
Natural variantiVAR_071768205N → I in CHTD4; the mutation results in increased transcription activation of the EGR1 promoter; transcription activation of the APOB promoter is decreased. 1 PublicationCorresponds to variant dbSNP:rs587777372EnsemblClinVar.1
Natural variantiVAR_071769251E → D in CHTD4. 1 Publication1
Natural variantiVAR_071770341S → Y in CHTD4; the mutation results in reduced transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777371EnsemblClinVar.1
Natural variantiVAR_071771412A → S in CHTD4. 1 PublicationCorresponds to variant dbSNP:rs201527820Ensembl.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_0438971 – 153Missing in isoform 3. 2 PublicationsAdd BLAST153
Alternative sequenceiVSP_0426301 – 147MAMVV…GMRRE → MQAVWDLEQGKYGF in isoform 2. 4 PublicationsAdd BLAST147

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
M64497 mRNA Translation: AAA86429.1
U60477 Genomic DNA Translation: AAB09475.1
AB307711 mRNA Translation: BAH02302.1
FM208183 mRNA Translation: CAR63888.1
AK298824 mRNA Translation: BAG60954.1
AK301595 mRNA Translation: BAG63083.1
AK316086 mRNA Translation: BAH14457.1
HQ692849 mRNA Translation: ADZ17360.1
HQ692850 mRNA Translation: ADZ17361.1
AC016251 Genomic DNA No translation available.
CH471101 Genomic DNA Translation: EAX02195.1
CH471101 Genomic DNA Translation: EAX02196.1
CH471101 Genomic DNA Translation: EAX02197.1
BC014664 mRNA Translation: AAH14664.1
BC042897 mRNA Translation: AAH42897.1
BC106083 mRNA Translation: AAI06084.1
M62760 mRNA Translation: AAA21479.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10375.1 [P24468-1]
CCDS45358.1 [P24468-2]
CCDS45359.1 [P24468-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A37133

NCBI Reference Sequences

More...RefSeqi		NP_001138627.1, NM_001145155.1 [P24468-2]
NP_001138628.1, NM_001145156.1 [P24468-3]
NP_001138629.1, NM_001145157.1 [P24468-3]
NP_066285.1, NM_021005.3 [P24468-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000394166; ENSP00000377721; ENSG00000185551 [P24468-1]
ENST00000394171; ENSP00000377726; ENSG00000185551 [P24468-3]
ENST00000421109; ENSP00000401674; ENSG00000185551 [P24468-2]
ENST00000453270; ENSP00000389853; ENSG00000185551 [P24468-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7026

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7026

UCSC genome browser

More...UCSCi		uc002btp.4, human [P24468-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M64497 mRNA Translation: AAA86429.1
U60477 Genomic DNA Translation: AAB09475.1
AB307711 mRNA Translation: BAH02302.1
FM208183 mRNA Translation: CAR63888.1
AK298824 mRNA Translation: BAG60954.1
AK301595 mRNA Translation: BAG63083.1
AK316086 mRNA Translation: BAH14457.1
HQ692849 mRNA Translation: ADZ17360.1
HQ692850 mRNA Translation: ADZ17361.1
AC016251 Genomic DNA No translation available.
CH471101 Genomic DNA Translation: EAX02195.1
CH471101 Genomic DNA Translation: EAX02196.1
CH471101 Genomic DNA Translation: EAX02197.1
BC014664 mRNA Translation: AAH14664.1
BC042897 mRNA Translation: AAH42897.1
BC106083 mRNA Translation: AAI06084.1
M62760 mRNA Translation: AAA21479.1
CCDSiCCDS10375.1 [P24468-1]
CCDS45358.1 [P24468-2]
CCDS45359.1 [P24468-3]
PIRiA37133
RefSeqiNP_001138627.1, NM_001145155.1 [P24468-2]
NP_001138628.1, NM_001145156.1 [P24468-3]
NP_001138629.1, NM_001145157.1 [P24468-3]
NP_066285.1, NM_021005.3 [P24468-1]

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
3CJWX-ray1.48A175-414[»]
SMRiP24468
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112884, 83 interactors
CORUMiP24468
DIPiDIP-29713N
IntActiP24468, 49 interactors
MINTiP24468
STRINGi9606.ENSP00000377721

Chemistry databases

BindingDBiP24468
ChEMBLiCHEMBL1961790

PTM databases

iPTMnetiP24468
PhosphoSitePlusiP24468

Genetic variation databases

BioMutaiNR2F2
DMDMi114203

Proteomic databases

EPDiP24468
jPOSTiP24468
MassIVEiP24468
MaxQBiP24468
PaxDbiP24468
PeptideAtlasiP24468
PRIDEiP24468
ProteomicsDBi54206 [P24468-1]
54207 [P24468-2]
54208 [P24468-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16260, 318 antibodies

Genome annotation databases

EnsembliENST00000394166; ENSP00000377721; ENSG00000185551 [P24468-1]
ENST00000394171; ENSP00000377726; ENSG00000185551 [P24468-3]
ENST00000421109; ENSP00000401674; ENSG00000185551 [P24468-2]
ENST00000453270; ENSP00000389853; ENSG00000185551 [P24468-3]
GeneIDi7026
KEGGihsa:7026
UCSCiuc002btp.4, human [P24468-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7026
DisGeNETi7026

GeneCards: human genes, protein and diseases

More...GeneCardsi		NR2F2
HGNCiHGNC:7976, NR2F2
HPAiENSG00000185551, Low tissue specificity
MalaCardsiNR2F2
MIMi107773, gene
615779, phenotype
618901, phenotype
neXtProtiNX_P24468
OpenTargetsiENSG00000185551
Orphaneti99067, Complete atrioventricular septal defect with ventricular hypoplasia
99068, Complete atrioventricular septal defect-tetralogy of Fallot
1330, Partial atrioventricular septal defect
PharmGKBiPA31759
VEuPathDBiHostDB:ENSG00000185551.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3575, Eukaryota
GeneTreeiENSGT00940000157540
HOGENOMiCLU_007368_20_1_1
InParanoidiP24468
OMAiNCAIDVQ
OrthoDBi666130at2759
PhylomeDBiP24468
TreeFamiTF352097

Enzyme and pathway databases

PathwayCommonsiP24468
ReactomeiR-HSA-381340, Transcriptional regulation of white adipocyte differentiation
SignaLinkiP24468
SIGNORiP24468

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7026, 30 hits in 1020 CRISPR screens

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

More...ChiTaRSi		NR2F2, human
EvolutionaryTraceiP24468

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		COUP-TFII

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

More...GenomeRNAii		7026
PharosiP24468, Tbio

Protein Ontology

More...PROi		PR:P24468
RNActiP24468, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000185551, Expressed in female gonad and 255 other tissues
ExpressionAtlasiP24468, baseline and differential
GenevisibleiP24468, HS

Family and domain databases

Gene3Di1.10.565.10, 1 hit
3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500, NHR-like_dom_sf
IPR000536, Nucl_hrmn_rcpt_lig-bd
IPR001723, Nuclear_hrmn_rcpt
IPR001628, Znf_hrmn_rcpt
IPR013088, Znf_NHR/GATA
PfamiView protein in Pfam
PF00104, Hormone_recep, 1 hit
PF00105, zf-C4, 1 hit
PRINTSiPR00398, STRDHORMONER
PR00047, STROIDFINGER
SMARTiView protein in SMART
SM00430, HOLI, 1 hit
SM00399, ZnF_C4, 1 hit
SUPFAMiSSF48508, SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843, NR_LBD, 1 hit
PS00031, NUCLEAR_REC_DBD_1, 1 hit
PS51030, NUCLEAR_REC_DBD_2, 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 nameiCOT2_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: P24468
Secondary accession number(s): B4DQJ2
, B6ZGU1, Q03754, Q3KQR7
<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: March 1, 1992
Last sequence update: March 1, 1992
Last modified: April 7, 2021
This is version 205 of the entry and version 1 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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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