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UniProtKB - Q99697 (PITX2_HUMAN)

Protein

Pituitary homeobox 2

Gene

PITX2

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

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi85 – 144HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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 functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8866906 TFAP2 (AP-2) family regulates transcription of other transcription factors

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

More...SignaLinki		Q99697

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99697

<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:
Pituitary homeobox 2
Alternative name(s):
ALL1-responsive protein ARP1
Homeobox protein PITX2
Paired-like homeodomain transcription factor 2
RIEG bicoid-related homeobox transcription factor
Solurshin
<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:PITX2
Synonyms:ARP1, RGS, RIEG, RIEG1
<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 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_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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000164093.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:9005 PITX2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601542 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99697

<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; 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

Axenfeld-Rieger syndrome 1 (RIEG1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
See also OMIM:180500
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_003763100L → Q in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893857Ensembl.1
Natural variantiVAR_058735110P → L in RIEG1. 2 PublicationsCorresponds to variant dbSNP:rs1057519484Ensembl.1
Natural variantiVAR_058736110P → R in RIEG1. 1 Publication1
Natural variantiVAR_003764114T → P in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893858Ensembl.1
Natural variantiVAR_035028128 – 134Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity. 7
Natural variantiVAR_035029129V → L in RIEG1; more than 200% increase in transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121909249Ensembl.1
Natural variantiVAR_058737134K → E in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs387906810Ensembl.1
Natural variantiVAR_058738136R → C in RIEG1. 2 Publications1
Natural variantiVAR_003766137R → P in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893859Ensembl.1
Natural variantiVAR_058739151L → V in RIEG1. 1 Publication1
Natural variantiVAR_058740154N → T in RIEG1. 1 Publication1
Anterior segment dysgenesis 4 (ASGD4)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.
See also OMIM:137600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003765115R → H in ASGD4. 1 PublicationCorresponds to variant dbSNP:rs104893861EnsemblClinVar.1
Natural variantiVAR_003762130R → W in ASGD4. 1 PublicationCorresponds to variant dbSNP:rs121909248Ensembl.1
Isoform PTX2A (identifier: Q99697-3)
Natural varianti58F → L in ASGD4. 1 Publication1
Ring dermoid of cornea (RDC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.
See also OMIM:180550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035027108R → H in RDC; results in 25% loss of transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs104893862Ensembl.1

Keywords - Diseasei

Disease mutation, Peters anomaly

Organism-specific databases

DisGeNET

More...DisGeNETi		5308

MalaCards human disease database

More...MalaCardsi		PITX2
MIMi137600 phenotype
180500 phenotype
180550 phenotype

Open Targets

More...OpenTargetsi		ENSG00000164093

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

More...Orphaneti		98978 Axenfeld anomaly
782 Axenfeld-Rieger syndrome
334 Familial atrial fibrillation
708 Peters anomaly
91483 Rieger anomaly
91481 Ring dermoid of cornea

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33339

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PITX2

Domain mapping of disease mutations (DMDM)

More...DMDMi		6174907

<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_00000492231 – 317Pituitary homeobox 2Add BLAST317

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 residuei90Phosphothreonine; by PKB/AKT2By similarity1

<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

Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q99697

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q99697

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

More...PaxDbi		Q99697

PeptideAtlas

More...PeptideAtlasi		Q99697

PRoteomics IDEntifications database

More...PRIDEi		Q99697

ProteomicsDB human proteome resource

More...ProteomicsDBi		78403
78404 [Q99697-2]
78405 [Q99697-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99697

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

More...PhosphoSitePlusi		Q99697

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000164093 Expressed in 127 organ(s), highest expression level in placenta

CleanEx database of gene expression profiles

More...CleanExi		HS_PITX2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99697 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99697 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA050074
HPA062728

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		111325, 18 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q99697

Protein interaction database and analysis system

More...IntActi		Q99697, 48 interactors

Molecular INTeraction database

More...MINTi		Q99697

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000304169

<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

1317
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
2L7FNMR-P85-144[»]
2L7MNMR-P85-144[»]
2LKXNMR-A85-144[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q99697

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

More...SMRi		Q99697

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q99697

<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

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>Motifi279 – 292OARPROSITE-ProRule annotationAdd BLAST14
Motifi285 – 289Nuclear localization signalSequence analysis5

<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 paired homeobox family. Bicoid subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0486 Eukaryota
ENOG410ZZ6J LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162789

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000273886

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG068770

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99697

KEGG Orthology (KO)

More...KOi		K04686

Identification of Orthologs from Complete Genome Data

More...OMAi		SACPYAP

Database of Orthologous Groups

More...OrthoDBi		1432356at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99697

TreeFam database of animal gene trees

More...TreeFami		TF351940

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR016233 Homeobox_Pitx/unc30
IPR003654 OAR_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046 Homeodomain, 1 hit
PF03826 OAR, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000563 Homeobox_protein_Pitx/Unc30, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_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 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.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform PTX2B (identifier: Q99697-1) [UniParc]FASTAAdd to basket
Also known as: ARP1B

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS 
        60         70         80         90        100
KFFPRQHPGA NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL 
       110        120        130        140        150
EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE 
       160        170        180        190        200
LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM 
       210        220        230        240        250
NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS 
       260        270        280        290        300
PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 
       310 
NPASNLSACQ YAVDRPV
Length:317
Mass (Da):35,370
Last modified:July 15, 1999 - 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:i00853AFDBA4433CB
GO
Isoform PTX2C (identifier: Q99697-2) [UniParc]FASTAAdd to basket
Also known as: ARP1C

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: METNCRKLVS...FFPRQHPGAN → MNCMKGPLHL...ISDTSSPEAA

Show »
Length:324
Mass (Da):35,796
Checksum:i7379DD12E1B0013C
GO
Isoform PTX2A (identifier: Q99697-3) [UniParc]FASTAAdd to basket
Also known as: ARP1A

The sequence of this isoform differs from the canonical sequence as follows:
     16-61: Missing.

Show »
Length:271
Mass (Da):30,336
Checksum:i45D2ADA6DF03FF65
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RFI4D6RFI4_HUMAN
Pituitary homeobox 2
PITX2
290Annotation 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>
D6RBG8D6RBG8_HUMAN
Pituitary homeobox 2
PITX2
118Annotation 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>
U3KQ81U3KQ81_HUMAN
Pituitary homeobox 2
PITX2
264Annotation 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>
A8MUL9A8MUL9_HUMAN
Pituitary homeobox 2
PITX2
174Annotation 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 conflicti13V → L (PubMed:8944018).Curated1
Sequence conflicti13V → L (Ref. 3) Curated1
Sequence conflicti99E → Q in AAC16257 (PubMed:8944018).Curated1
Sequence conflicti127A → T in BAF84280 (PubMed:14702039).Curated1
Sequence conflicti301N → K (PubMed:8944018).Curated1
Sequence conflicti301N → K (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003763100L → Q in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893857Ensembl.1
Natural variantiVAR_035027108R → H in RDC; results in 25% loss of transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs104893862Ensembl.1
Natural variantiVAR_058735110P → L in RIEG1. 2 PublicationsCorresponds to variant dbSNP:rs1057519484Ensembl.1
Natural variantiVAR_058736110P → R in RIEG1. 1 Publication1
Natural variantiVAR_003764114T → P in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893858Ensembl.1
Natural variantiVAR_003765115R → H in ASGD4. 1 PublicationCorresponds to variant dbSNP:rs104893861EnsemblClinVar.1
Natural variantiVAR_035028128 – 134Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity. 7
Natural variantiVAR_035029129V → L in RIEG1; more than 200% increase in transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121909249Ensembl.1
Natural variantiVAR_003762130R → W in ASGD4. 1 PublicationCorresponds to variant dbSNP:rs121909248Ensembl.1
Natural variantiVAR_058737134K → E in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs387906810Ensembl.1
Natural variantiVAR_058738136R → C in RIEG1. 2 Publications1
Natural variantiVAR_003766137R → P in RIEG1. 1 PublicationCorresponds to variant dbSNP:rs104893859Ensembl.1
Natural variantiVAR_058739151L → V in RIEG1. 1 Publication1
Natural variantiVAR_058740154N → T in RIEG1. 1 Publication1
Isoform PTX2A (identifier: Q99697-3)
Natural varianti58F → L in ASGD4. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0022601 – 61METNC…HPGAN → MNCMKGPLHLEHRAAGTKLS AVSSSSCHHPQPLAMASVLA PGQPRSLDSSKHRLEVHTIS DTSSPEAA in isoform PTX2C. 3 PublicationsAdd BLAST61
Alternative sequenceiVSP_00226116 – 61Missing in isoform PTX2A. 3 PublicationsAdd BLAST46

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
U69961 mRNA Translation: AAC16257.1
AF048720 mRNA Translation: AAC39716.1
AF048721 mRNA Translation: AAC39717.1
AF048722 mRNA Translation: AAC39718.1
AF238048 Genomic DNA Translation: AAK15048.1
AK127829 mRNA Translation: BAG54582.1
AK291591 mRNA Translation: BAF84280.1
AK313987 mRNA Translation: BAG36699.1
CH471057 Genomic DNA Translation: EAX06262.1
CH471057 Genomic DNA Translation: EAX06263.1
CH471057 Genomic DNA Translation: EAX06264.1
BC013998 mRNA Translation: AAH13998.1
BC106010 mRNA Translation: AAI06011.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3692.1 [Q99697-1]
CCDS3693.1 [Q99697-3]
CCDS3694.1 [Q99697-2]

NCBI Reference Sequences

More...RefSeqi		NP_000316.2, NM_000325.5 [Q99697-2]
NP_001191326.1, NM_001204397.1 [Q99697-1]
NP_001191327.1, NM_001204398.1 [Q99697-1]
NP_001191328.1, NM_001204399.1 [Q99697-3]
NP_700475.1, NM_153426.2 [Q99697-1]
NP_700476.1, NM_153427.2 [Q99697-3]
XP_011530329.1, XM_011532027.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.643588
Hs.738484

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000306732; ENSP00000304169; ENSG00000164093 [Q99697-2]
ENST00000354925; ENSP00000347004; ENSG00000164093 [Q99697-1]
ENST00000355080; ENSP00000347192; ENSG00000164093 [Q99697-3]
ENST00000394595; ENSP00000378095; ENSG00000164093 [Q99697-1]
ENST00000394598; ENSP00000378097; ENSG00000164093 [Q99697-1]
ENST00000613094; ENSP00000484763; ENSG00000164093 [Q99697-1]
ENST00000614423; ENSP00000481951; ENSG00000164093 [Q99697-1]
ENST00000616641; ENSP00000484909; ENSG00000164093 [Q99697-3]
ENST00000644743; ENSP00000495061; ENSG00000164093 [Q99697-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5308

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5308

UCSC genome browser

More...UCSCi		uc003iac.4 human [Q99697-1]

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
U69961 mRNA Translation: AAC16257.1
AF048720 mRNA Translation: AAC39716.1
AF048721 mRNA Translation: AAC39717.1
AF048722 mRNA Translation: AAC39718.1
AF238048 Genomic DNA Translation: AAK15048.1
AK127829 mRNA Translation: BAG54582.1
AK291591 mRNA Translation: BAF84280.1
AK313987 mRNA Translation: BAG36699.1
CH471057 Genomic DNA Translation: EAX06262.1
CH471057 Genomic DNA Translation: EAX06263.1
CH471057 Genomic DNA Translation: EAX06264.1
BC013998 mRNA Translation: AAH13998.1
BC106010 mRNA Translation: AAI06011.1
CCDSiCCDS3692.1 [Q99697-1]
CCDS3693.1 [Q99697-3]
CCDS3694.1 [Q99697-2]
RefSeqiNP_000316.2, NM_000325.5 [Q99697-2]
NP_001191326.1, NM_001204397.1 [Q99697-1]
NP_001191327.1, NM_001204398.1 [Q99697-1]
NP_001191328.1, NM_001204399.1 [Q99697-3]
NP_700475.1, NM_153426.2 [Q99697-1]
NP_700476.1, NM_153427.2 [Q99697-3]
XP_011530329.1, XM_011532027.2
UniGeneiHs.643588
Hs.738484

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2L7FNMR-P85-144[»]
2L7MNMR-P85-144[»]
2LKXNMR-A85-144[»]
ProteinModelPortaliQ99697
SMRiQ99697
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111325, 18 interactors
CORUMiQ99697
IntActiQ99697, 48 interactors
MINTiQ99697
STRINGi9606.ENSP00000304169

PTM databases

iPTMnetiQ99697
PhosphoSitePlusiQ99697

Polymorphism and mutation databases

BioMutaiPITX2
DMDMi6174907

Proteomic databases

jPOSTiQ99697
MaxQBiQ99697
PaxDbiQ99697
PeptideAtlasiQ99697
PRIDEiQ99697
ProteomicsDBi78403
78404 [Q99697-2]
78405 [Q99697-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		5308
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306732; ENSP00000304169; ENSG00000164093 [Q99697-2]
ENST00000354925; ENSP00000347004; ENSG00000164093 [Q99697-1]
ENST00000355080; ENSP00000347192; ENSG00000164093 [Q99697-3]
ENST00000394595; ENSP00000378095; ENSG00000164093 [Q99697-1]
ENST00000394598; ENSP00000378097; ENSG00000164093 [Q99697-1]
ENST00000613094; ENSP00000484763; ENSG00000164093 [Q99697-1]
ENST00000614423; ENSP00000481951; ENSG00000164093 [Q99697-1]
ENST00000616641; ENSP00000484909; ENSG00000164093 [Q99697-3]
ENST00000644743; ENSP00000495061; ENSG00000164093 [Q99697-2]
GeneIDi5308
KEGGihsa:5308
UCSCiuc003iac.4 human [Q99697-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5308
DisGeNETi5308
EuPathDBiHostDB:ENSG00000164093.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		PITX2
HGNCiHGNC:9005 PITX2
HPAiHPA050074
HPA062728
MalaCardsiPITX2
MIMi137600 phenotype
180500 phenotype
180550 phenotype
601542 gene
neXtProtiNX_Q99697
OpenTargetsiENSG00000164093
Orphaneti98978 Axenfeld anomaly
782 Axenfeld-Rieger syndrome
334 Familial atrial fibrillation
708 Peters anomaly
91483 Rieger anomaly
91481 Ring dermoid of cornea
PharmGKBiPA33339

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0486 Eukaryota
ENOG410ZZ6J LUCA
GeneTreeiENSGT00940000162789
HOGENOMiHOG000273886
HOVERGENiHBG068770
InParanoidiQ99697
KOiK04686
OMAiSACPYAP
OrthoDBi1432356at2759
PhylomeDBiQ99697
TreeFamiTF351940

Enzyme and pathway databases

ReactomeiR-HSA-8866906 TFAP2 (AP-2) family regulates transcription of other transcription factors
SignaLinkiQ99697
SIGNORiQ99697

Miscellaneous databases

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

More...ChiTaRSi		PITX2 human
EvolutionaryTraceiQ99697

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PITX2

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

More...GenomeRNAii		5308

Protein Ontology

More...PROi		PR:Q99697

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164093 Expressed in 127 organ(s), highest expression level in placenta
CleanExiHS_PITX2
ExpressionAtlasiQ99697 baseline and differential
GenevisibleiQ99697 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR016233 Homeobox_Pitx/unc30
IPR003654 OAR_dom
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF03826 OAR, 1 hit
PIRSFiPIRSF000563 Homeobox_protein_Pitx/Unc30, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiPITX2_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: Q99697
Secondary accession number(s): A8K6C6
, B2RA02, B3KXS0, O60578, O60579, O60580, Q3KQX9, Q9BY17
<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: July 15, 1998
Last sequence update: July 15, 1999
Last modified: January 16, 2019
This is version 200 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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