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Entry version 149 (16 Oct 2019)
Sequence version 3 (20 Feb 2007)
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Protein

Zinc finger protein ZFPM2

Gene

ZFPM2

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

Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 fingeri244 – 277CCHC FOG-type 1PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri296 – 320C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri335 – 357C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri363 – 385C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri542 – 575CCHC FOG-type 2PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri681 – 714CCHC FOG-type 3PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri848 – 881CCHC FOG-type 4PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri1113 – 1146CCHC FOG-type 5PROSITE-ProRule annotationAdd BLAST34

<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 functionActivator, DNA-binding, Repressor
Biological processDifferentiation, Gonadal differentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8WW38

<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_and_taxonomy_section">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:
Zinc finger protein ZFPM2
Alternative name(s):
Friend of GATA protein 2
Short name:
FOG-2
Short name:
Friend of GATA 2
Short name:
hFOG-2
Zinc finger protein 89B
Zinc finger protein multitype 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ZFPM2
Synonyms:FOG2, ZNF89B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 8

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:16700 ZFPM2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603693 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8WW38

<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

Tetralogy of Fallot (TOF)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
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_01794230E → G in TOF and CTHM; does not affect its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs121908601EnsemblClinVar.1
Natural variantiVAR_072075544M → I in SRXY9 and TOF; reduced its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs187043152EnsemblClinVar.1
Natural variantiVAR_017943657S → G in TOF; slightly impairs its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs28374544EnsemblClinVar.1
Diaphragmatic hernia 3 (DIH3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionForm of congenital diaphragmatic hernia (CDH). CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension.
Related information in OMIM
46,XY sex reversal 9 (SRXY9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071104260R → Q in SRXY9; results in reduced transactivation activity on the AMH promoter; does not affect its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs200834568EnsemblClinVar.1
Natural variantiVAR_071105402S → R in SRXY9; results in reduced transactivation activity on the AMH promoter; abolished its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs606231252EnsemblClinVar.1
Natural variantiVAR_072075544M → I in SRXY9 and TOF; reduced its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs187043152EnsemblClinVar.1
Conotruncal heart malformations (CTHM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01794230E → G in TOF and CTHM; does not affect its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs121908601EnsemblClinVar.1
Natural variantiVAR_072074227I → V in CTHM. 1 PublicationCorresponds to variant dbSNP:rs202204708Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
23414

MalaCards human disease database

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MalaCardsi
ZFPM2
MIMi187500 phenotype
217095 phenotype
610187 phenotype
616067 phenotype

Open Targets

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OpenTargetsi
ENSG00000169946

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

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Orphaneti
251510 46,XY partial gonadal dysgenesis
2140 Congenital diaphragmatic hernia
3303 Tetralogy of Fallot

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134947303

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8WW38

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ZFPM2

Domain mapping of disease mutations (DMDM)

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DMDMi
126302543

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002210431 – 1151Zinc finger protein ZFPM2Add BLAST1151

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki324Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki444Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
<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 residuei532PhosphoserineCombined sources1
Modified residuei581PhosphoserineCombined sources1
Modified residuei904PhosphoserineCombined sources1
Cross-linki915Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Cross-linki955Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication
Modified residuei1014PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylation reduces transcriptional repression activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WW38

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WW38

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

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PaxDbi
Q8WW38

PeptideAtlas

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PeptideAtlasi
Q8WW38

PRoteomics IDEntifications database

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PRIDEi
Q8WW38

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
74858 [Q8WW38-1]
74859 [Q8WW38-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8WW38

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

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PhosphoSitePlusi
Q8WW38

<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

Widely expressed at low level.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000169946 Expressed in 188 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WW38 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WW38 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA004094

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the N-terminal zinc-finger of GATA4, GATA5 and probably GATA6.

Interacts with retinoid nuclear receptor RXRA when ligand bound (By similarity).

Interacts with corepressor CTBP2; this interaction is however not essential for corepressor activity. Able to bind GATA1 in vitro.

Interacts with NR2F2 and NR2F6 (By similarity).

Interacts with ATOH8; mediates indirect interaction with GATA4 (By similarity).

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116986, 18 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q8WW38

Protein interaction database and analysis system

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IntActi
Q8WW38, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000384179

<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

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SMRi
Q8WW38

Database of comparative protein structure models

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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

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>Regioni829 – 835Interaction with CTBP2Curated7

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi736 – 740Nuclear localization signalBy similarity5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The CCHC FOG-type zinc fingers 1, 2, 3 and 5 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC FOG-type zinc finger is essential for the interaction with GATA-type zinc fingers (By similarity).By similarity

<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 FOG (Friend of GATA) family.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri244 – 277CCHC FOG-type 1PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri296 – 320C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri335 – 357C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri363 – 385C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri542 – 575CCHC FOG-type 2PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri681 – 714CCHC FOG-type 3PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri848 – 881CCHC FOG-type 4PROSITE-ProRule annotationAdd BLAST34
Zinc fingeri1113 – 1146CCHC FOG-type 5PROSITE-ProRule annotationAdd BLAST34

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063823

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000057275

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WW38

KEGG Orthology (KO)

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KOi
K17442

Identification of Orthologs from Complete Genome Data

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OMAi
NQRPETQ

Database of Orthologous Groups

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OrthoDBi
76702at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8WW38

TreeFam database of animal gene trees

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TreeFami
TF331342

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039746 FOG
IPR034731 ZF_CCHC_FOG
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

The PANTHER Classification System

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PANTHERi
PTHR12958 PTHR12958, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 6 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51810 ZF_CCHC_FOG, 5 hits
PS00028 ZINC_FINGER_C2H2_1, 2 hits
PS50157 ZINC_FINGER_C2H2_2, 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WW38-1) [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
MSRRKQSKPR QIKRPLEDAI EDEEEECPSE ETDIISKGDF PLEESFSTEF
60 70 80 90 100
GPENLSCEEV EYFCNKGDDE GIQETAESDG DTQSEKPGQP GVETDDWDGP
110 120 130 140 150
GELEVFQKDG ERKIQSRQQL PVGTTWGPFP GKMDLNNNSL KTKAQVPMVL
160 170 180 190 200
TAGPKWLLDV TWQGVEDNKN NCIVYSKGGQ LWCTTTKAIS EGEELIAFVV
210 220 230 240 250
DFDSRLQAAS QMTLTEGMYP ARLLDSIQLL PQQAAMASIL PTAIVNKDIF
260 270 280 290 300
PCKSCGIWYR SERNLQAHLM YYCSGRQREA APVSEENEDS AHQISSLCPF
310 320 330 340 350
PQCTKSFSNA RALEMHLNSH SGVKMEEFLP PGASLKCTVC SYTADSVINF
360 370 380 390 400
HQHLFSHLTQ AAFRCNHCHF GFQTQRELLQ HQELHVPSGK LPRESDMEHS
410 420 430 440 450
PSATEDSLQP ATDLLTRSEL PQSQKAMQTK DASSDTELDK CEKKTQLFLT
460 470 480 490 500
NQRPEIQPTT NKQSFSYTKI KSEPSSPRLA SSPVQPNIGP SFPVGPFLSQ
510 520 530 540 550
FSFPQDITMV PQASEILAKM SELVHRRLRH GSSSYPPVIY SPLMPKGATC
560 570 580 590 600
FECNITFNNL DNYLVHKKHY CSSRWQQMAK SPEFPSVSEK MPEALSPNTG
610 620 630 640 650
QTSINLLNPA AHSADPENPL LQTSCINSST VLDLIGPNGK GHDKDFSTQT
660 670 680 690 700
KKLSTSSNND DKINGKPVDV KNPSVPLVDG ESDPNKTTCE ACNITFSRHE
710 720 730 740 750
TYMVHKQYYC ATRHDPPLKR SASNKVPAMQ RTMRTRKRRK MYEMCLPEQE
760 770 780 790 800
QRPPLVQQRF LDVANLNNPC TSTQEPTEGL GECYHPRCDI FPGIVSKHLE
810 820 830 840 850
TSLTINKCVP VSKCDTTHSS VSCLEMDVPI DLSKKCLSQS ERTTTSPKRL
860 870 880 890 900
LDYHECTVCK ISFNKVENYL AHKQNFCPVT AHQRNDLGQL DGKVFPNPES
910 920 930 940 950
ERNSPDVSYE RSIIKCEKNG NLKQPSPNGN LFSSHLATLQ GLKVFSEAAQ
960 970 980 990 1000
LIATKEENRH LFLPQCLYPG AIKKAKGADQ LSPYYGIKPS DYISGSLVIH
1010 1020 1030 1040 1050
NTDIEQSRNA ENESPKGQAS SNGCAALKKD SLPLLPKNRG MVIVNGGLKQ
1060 1070 1080 1090 1100
DERPAANPQQ ENISQNPQHE DDHKSPSWIS ENPLAANENV SPGIPSAEEQ
1110 1120 1130 1140 1150
LSSIAKGVNG SSQAPTSGKY CRLCDIQFNN LSNFITHKKF YCSSHAAEHV

K
Length:1,151
Mass (Da):128,159
Last modified:February 20, 2007 - 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:i680E31BA1D044C35
GO
Isoform 2 (identifier: Q8WW38-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.
     247-287: KDIFPCKSCG...REAAPVSEEN → SKCSVLCSPA...FFLQKKKKKK

Note: Sequence incomplete. No experimental confirmation available.
Show »
Length:1,019
Mass (Da):113,229
Checksum:iA4365593BE3B4476
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ET52E7ET52_HUMAN
Zinc finger protein ZFPM2
ZFPM2
1,019Annotation score:

Annotation score:2 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>
E5RJX0E5RJX0_HUMAN
Zinc finger protein ZFPM2
ZFPM2
26Annotation 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>

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 conflicti198F → L in CAB97541 (Ref. 3) Curated1
Sequence conflicti939L → P in AAD49558 (PubMed:10438528).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01794230E → G in TOF and CTHM; does not affect its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs121908601EnsemblClinVar.1
Natural variantiVAR_072074227I → V in CTHM. 1 PublicationCorresponds to variant dbSNP:rs202204708Ensembl.1
Natural variantiVAR_071104260R → Q in SRXY9; results in reduced transactivation activity on the AMH promoter; does not affect its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs200834568EnsemblClinVar.1
Natural variantiVAR_071105402S → R in SRXY9; results in reduced transactivation activity on the AMH promoter; abolished its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs606231252EnsemblClinVar.1
Natural variantiVAR_024178403A → G1 PublicationCorresponds to variant dbSNP:rs11993776EnsemblClinVar.1
Natural variantiVAR_072075544M → I in SRXY9 and TOF; reduced its ability to interact with GATA4. 2 PublicationsCorresponds to variant dbSNP:rs187043152EnsemblClinVar.1
Natural variantiVAR_017943657S → G in TOF; slightly impairs its ability to interact with GATA4. 1 PublicationCorresponds to variant dbSNP:rs28374544EnsemblClinVar.1
Natural variantiVAR_017944782E → D1 PublicationCorresponds to variant dbSNP:rs2920048EnsemblClinVar.1
Natural variantiVAR_0307601055A → V. Corresponds to variant dbSNP:rs16873741EnsemblClinVar.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_0097011 – 132Missing in isoform 2. 1 PublicationAdd BLAST132
Alternative sequenceiVSP_009702247 – 287KDIFP…VSEEN → SKCSVLCSPALEVMGIYGRK KCLLTRNQEQTFFLQKKKKK K in isoform 2. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF119334 mRNA Translation: AAD49558.1
BC020928 mRNA Translation: AAH20928.1
BC109222 mRNA Translation: AAI09223.1
AL389987 mRNA Translation: CAB97539.1
AL389989 mRNA Translation: CAB97541.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47908.1 [Q8WW38-1]

NCBI Reference Sequences

More...
RefSeqi
NP_036214.2, NM_012082.3 [Q8WW38-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000407775; ENSP00000384179; ENSG00000169946 [Q8WW38-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23414

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23414

UCSC genome browser

More...
UCSCi
uc003ymd.4 human [Q8WW38-1]

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
AF119334 mRNA Translation: AAD49558.1
BC020928 mRNA Translation: AAH20928.1
BC109222 mRNA Translation: AAI09223.1
AL389987 mRNA Translation: CAB97539.1
AL389989 mRNA Translation: CAB97541.1
CCDSiCCDS47908.1 [Q8WW38-1]
RefSeqiNP_036214.2, NM_012082.3 [Q8WW38-1]

3D structure databases

SMRiQ8WW38
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116986, 18 interactors
ELMiQ8WW38
IntActiQ8WW38, 4 interactors
STRINGi9606.ENSP00000384179

PTM databases

iPTMnetiQ8WW38
PhosphoSitePlusiQ8WW38

Polymorphism and mutation databases

BioMutaiZFPM2
DMDMi126302543

Proteomic databases

MassIVEiQ8WW38
MaxQBiQ8WW38
PaxDbiQ8WW38
PeptideAtlasiQ8WW38
PRIDEiQ8WW38
ProteomicsDBi74858 [Q8WW38-1]
74859 [Q8WW38-2]

Genome annotation databases

EnsembliENST00000407775; ENSP00000384179; ENSG00000169946 [Q8WW38-1]
GeneIDi23414
KEGGihsa:23414
UCSCiuc003ymd.4 human [Q8WW38-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23414
DisGeNETi23414

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ZFPM2
HGNCiHGNC:16700 ZFPM2
HPAiHPA004094
MalaCardsiZFPM2
MIMi187500 phenotype
217095 phenotype
603693 gene
610187 phenotype
616067 phenotype
neXtProtiNX_Q8WW38
OpenTargetsiENSG00000169946
Orphaneti251510 46,XY partial gonadal dysgenesis
2140 Congenital diaphragmatic hernia
3303 Tetralogy of Fallot
PharmGKBiPA134947303

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00530000063823
HOGENOMiHOG000057275
InParanoidiQ8WW38
KOiK17442
OMAiNQRPETQ
OrthoDBi76702at2759
PhylomeDBiQ8WW38
TreeFamiTF331342

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiQ8WW38

Miscellaneous databases

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

More...
ChiTaRSi
ZFPM2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ZFPM2

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

More...
GenomeRNAii
23414
PharosiQ8WW38

Protein Ontology

More...
PROi
PR:Q8WW38

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169946 Expressed in 188 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ8WW38 baseline and differential
GenevisibleiQ8WW38 HS

Family and domain databases

InterProiView protein in InterPro
IPR039746 FOG
IPR034731 ZF_CCHC_FOG
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR12958 PTHR12958, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 8 hits
SUPFAMiSSF57667 SSF57667, 6 hits
PROSITEiView protein in PROSITE
PS51810 ZF_CCHC_FOG, 5 hits
PS00028 ZINC_FINGER_C2H2_1, 2 hits
PS50157 ZINC_FINGER_C2H2_2, 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 nameiFOG2_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: Q8WW38
Secondary accession number(s): Q32MA6
, Q9NPL7, Q9NPS4, Q9UNI5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: February 20, 2007
Last modified: October 16, 2019
This is version 149 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  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
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