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Q99697

- PITX2_HUMAN

UniProt

Q99697 - PITX2_HUMAN

Protein

Pituitary homeobox 2

Gene

PITX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi85 – 14460HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin DNA binding Source: Ensembl
    2. phosphoprotein binding Source: BHF-UCL
    3. protein binding Source: BHF-UCL
    4. protein homodimerization activity Source: BHF-UCL
    5. ribonucleoprotein complex binding Source: BHF-UCL
    6. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    7. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
    8. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    9. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    10. RNA polymerase II transcription coactivator activity Source: BHF-UCL
    11. RNA polymerase II transcription factor binding Source: BHF-UCL
    12. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    13. sequence-specific DNA binding transcription factor activity Source: MGI
    14. transcription factor binding Source: MGI
    15. transcription regulatory region sequence-specific DNA binding Source: BHF-UCL

    GO - Biological processi

    1. atrial cardiac muscle tissue morphogenesis Source: Ensembl
    2. atrioventricular valve development Source: Ensembl
    3. camera-type eye development Source: BHF-UCL
    4. cardiac neural crest cell migration involved in outflow tract morphogenesis Source: BHF-UCL
    5. cell proliferation involved in outflow tract morphogenesis Source: BHF-UCL
    6. deltoid tuberosity development Source: BHF-UCL
    7. determination of left/right symmetry Source: BHF-UCL
    8. embryonic camera-type eye development Source: Ensembl
    9. embryonic digestive tract morphogenesis Source: Ensembl
    10. embryonic hindlimb morphogenesis Source: Ensembl
    11. endodermal digestive tract morphogenesis Source: Ensembl
    12. extraocular skeletal muscle development Source: Ensembl
    13. female gonad development Source: Ensembl
    14. hair cell differentiation Source: BHF-UCL
    15. hypothalamus cell migration Source: Ensembl
    16. in utero embryonic development Source: Ensembl
    17. iris morphogenesis Source: BHF-UCL
    18. left/right axis specification Source: BHF-UCL
    19. left lung morphogenesis Source: Ensembl
    20. male gonad development Source: Ensembl
    21. myoblast fusion Source: Ensembl
    22. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    23. neuron migration Source: Ensembl
    24. odontogenesis Source: BHF-UCL
    25. odontogenesis of dentin-containing tooth Source: Ensembl
    26. patterning of blood vessels Source: Ensembl
    27. positive regulation of DNA binding Source: Ensembl
    28. positive regulation of myoblast proliferation Source: Ensembl
    29. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    30. prolactin secreting cell differentiation Source: BHF-UCL
    31. pulmonary myocardium development Source: Ensembl
    32. pulmonary vein morphogenesis Source: Ensembl
    33. regulation of cell migration Source: Ensembl
    34. regulation of transcription, DNA-templated Source: MGI
    35. regulation of transcription from RNA polymerase II promoter Source: MGI
    36. response to hormone Source: Ensembl
    37. response to vitamin A Source: Ensembl
    38. somatotropin secreting cell differentiation Source: BHF-UCL
    39. spleen development Source: BHF-UCL
    40. subthalamic nucleus development Source: Ensembl
    41. superior vena cava morphogenesis Source: Ensembl
    42. vascular smooth muscle cell differentiation Source: Ensembl
    43. vasculogenesis Source: Ensembl
    44. ventricular cardiac muscle cell development Source: Ensembl
    45. ventricular septum morphogenesis Source: Ensembl
    46. Wnt signaling pathway Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ99697.

    Names & Taxonomyi

    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
    Gene namesi
    Name:PITX2
    Synonyms:ARP1, RGS, RIEG, RIEG1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:9005. PITX2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nucleus Source: BHF-UCL
    3. transcription factor complex Source: MGI

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]: An 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001L → Q in RIEG1. 1 Publication
    VAR_003763
    Natural varianti110 – 1101P → L in RIEG1. 2 Publications
    VAR_058735
    Natural varianti110 – 1101P → R in RIEG1. 1 Publication
    VAR_058736
    Natural varianti114 – 1141T → P in RIEG1. 1 Publication
    VAR_003764
    Natural varianti128 – 1347Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity.
    VAR_035028
    Natural varianti129 – 1291V → L in RIEG1; more than 200% increase in transactivation activity. 1 Publication
    VAR_035029
    Natural varianti134 – 1341K → E in RIEG1. 1 Publication
    VAR_058737
    Natural varianti136 – 1361R → C in RIEG1. 2 Publications
    VAR_058738
    Natural varianti137 – 1371R → P in RIEG1. 1 Publication
    VAR_003766
    Natural varianti151 – 1511L → V in RIEG1. 1 Publication
    VAR_058739
    Natural varianti154 – 1541N → T in RIEG1. 1 Publication
    VAR_058740
    Iridogoniodysgenesis 2 (IRID2) [MIM:137600]: Autosomal dominant inherited disease.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti115 – 1151R → H in IRID2. 1 Publication
    VAR_003765
    Natural varianti130 – 1301R → W in IRID2. 1 Publication
    VAR_003762
    Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Ring dermoid of cornea (RDC) [MIM:180550]: An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081R → H in RDC; results in 25% loss of transactivation activity. 2 Publications
    VAR_035027

    Keywords - Diseasei

    Disease mutation, Peters anomaly

    Organism-specific databases

    MIMi137600. phenotype.
    180500. phenotype.
    180550. phenotype.
    604229. phenotype.
    Orphaneti98978. Axenfeld anomaly.
    782. Axenfeld-Rieger syndrome.
    334. Familial atrial fibrillation.
    708. Peters anomaly.
    91483. Rieger anomaly.
    91481. Ring dermoid of cornea.
    PharmGKBiPA33339.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 317317Pituitary homeobox 2PRO_0000049223Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei90 – 901Phosphothreonine; by PKB/AKT2By similarity

    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

    MaxQBiQ99697.
    PaxDbiQ99697.
    PRIDEiQ99697.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99697.
    BgeeiQ99697.
    CleanExiHS_PITX2.
    GenevestigatoriQ99697.

    Organism-specific databases

    HPAiHPA050074.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CTNNB1P352222EBI-1175211,EBI-491549
    FOXC1Q129486EBI-1175243,EBI-1175253
    Hoxa1P090223EBI-1175211,EBI-3957603From a different organism.
    MEF2AQ020782EBI-1175243,EBI-2656305
    YBX1P678093EBI-1175211,EBI-354065

    Protein-protein interaction databases

    BioGridi111325. 14 interactions.
    IntActiQ99697. 13 interactions.
    STRINGi9606.ENSP00000304169.

    Structurei

    Secondary structure

    1
    317
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi86 – 883
    Beta strandi90 – 923
    Helixi94 – 10613
    Helixi112 – 12211
    Helixi126 – 14116

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2L7FNMR-P85-144[»]
    2L7MNMR-P85-144[»]
    2LKXNMR-A85-144[»]
    ProteinModelPortaliQ99697.
    SMRiQ99697. Positions 85-144.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ99697.

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi279 – 29214OARAdd
    BLAST
    Motifi285 – 2895Nuclear localization signalSequence Analysis

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG249113.
    HOVERGENiHBG068770.
    KOiK04686.
    OMAiDMYPSYT.
    OrthoDBiEOG7VTDNW.
    PhylomeDBiQ99697.
    TreeFamiTF351940.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR016233. Homeobox_Pitx/unc30.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS    50
    KFFPRQHPGA NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL 100
    EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE 150
    LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM 200
    NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS 250
    PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300
    NPASNLSACQ YAVDRPV 317
    Length:317
    Mass (Da):35,370
    Last modified:July 15, 1999 - v2
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti13 – 131V → L(PubMed:8944018)Curated
    Sequence conflicti13 – 131V → L1 PublicationCurated
    Sequence conflicti99 – 991E → Q in AAC16257. (PubMed:8944018)Curated
    Sequence conflicti127 – 1271A → T in BAF84280. (PubMed:14702039)Curated
    Sequence conflicti301 – 3011N → K(PubMed:8944018)Curated
    Sequence conflicti301 – 3011N → K1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001L → Q in RIEG1. 1 Publication
    VAR_003763
    Natural varianti108 – 1081R → H in RDC; results in 25% loss of transactivation activity. 2 Publications
    VAR_035027
    Natural varianti110 – 1101P → L in RIEG1. 2 Publications
    VAR_058735
    Natural varianti110 – 1101P → R in RIEG1. 1 Publication
    VAR_058736
    Natural varianti114 – 1141T → P in RIEG1. 1 Publication
    VAR_003764
    Natural varianti115 – 1151R → H in IRID2. 1 Publication
    VAR_003765
    Natural varianti128 – 1347Missing in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity.
    VAR_035028
    Natural varianti129 – 1291V → L in RIEG1; more than 200% increase in transactivation activity. 1 Publication
    VAR_035029
    Natural varianti130 – 1301R → W in IRID2. 1 Publication
    VAR_003762
    Natural varianti134 – 1341K → E in RIEG1. 1 Publication
    VAR_058737
    Natural varianti136 – 1361R → C in RIEG1. 2 Publications
    VAR_058738
    Natural varianti137 – 1371R → P in RIEG1. 1 Publication
    VAR_003766
    Natural varianti151 – 1511L → V in RIEG1. 1 Publication
    VAR_058739
    Natural varianti154 – 1541N → T in RIEG1. 1 Publication
    VAR_058740

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6161METNC…HPGAN → MNCMKGPLHLEHRAAGTKLS AVSSSSCHHPQPLAMASVLA PGQPRSLDSSKHRLEVHTIS DTSSPEAA in isoform PTX2C. 3 PublicationsVSP_002260Add
    BLAST
    Alternative sequencei16 – 6146Missing in isoform PTX2A. 3 PublicationsVSP_002261Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006714298.1. XM_006714235.1. [Q99697-1]
    UniGeneiHs.643588.
    Hs.738484.

    Genome annotation databases

    EnsembliENST00000306732; ENSP00000304169; ENSG00000164093. [Q99697-2]
    ENST00000354925; ENSP00000347004; ENSG00000164093. [Q99697-1]
    ENST00000355080; ENSP00000347192; ENSG00000164093. [Q99697-3]
    ENST00000394598; ENSP00000378097; ENSG00000164093. [Q99697-1]
    GeneIDi5308.
    KEGGihsa:5308.
    UCSCiuc003iac.3. human. [Q99697-2]
    uc003iad.3. human. [Q99697-1]
    uc003iae.3. human. [Q99697-3]

    Polymorphism databases

    DMDMi6174907.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS3692.1. [Q99697-1 ]
    CCDS3693.1. [Q99697-3 ]
    CCDS3694.1. [Q99697-2 ]
    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_006714298.1. XM_006714235.1. [Q99697-1 ]
    UniGenei Hs.643588.
    Hs.738484.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2L7F NMR - P 85-144 [» ]
    2L7M NMR - P 85-144 [» ]
    2LKX NMR - A 85-144 [» ]
    ProteinModelPortali Q99697.
    SMRi Q99697. Positions 85-144.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111325. 14 interactions.
    IntActi Q99697. 13 interactions.
    STRINGi 9606.ENSP00000304169.

    Polymorphism databases

    DMDMi 6174907.

    Proteomic databases

    MaxQBi Q99697.
    PaxDbi Q99697.
    PRIDEi Q99697.

    Protocols and materials databases

    DNASUi 5308.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306732 ; ENSP00000304169 ; ENSG00000164093 . [Q99697-2 ]
    ENST00000354925 ; ENSP00000347004 ; ENSG00000164093 . [Q99697-1 ]
    ENST00000355080 ; ENSP00000347192 ; ENSG00000164093 . [Q99697-3 ]
    ENST00000394598 ; ENSP00000378097 ; ENSG00000164093 . [Q99697-1 ]
    GeneIDi 5308.
    KEGGi hsa:5308.
    UCSCi uc003iac.3. human. [Q99697-2 ]
    uc003iad.3. human. [Q99697-1 ]
    uc003iae.3. human. [Q99697-3 ]

    Organism-specific databases

    CTDi 5308.
    GeneCardsi GC04M111538.
    GeneReviewsi PITX2.
    HGNCi HGNC:9005. PITX2.
    HPAi HPA050074.
    MIMi 137600. phenotype.
    180500. phenotype.
    180550. phenotype.
    601542. gene.
    604229. phenotype.
    neXtProti NX_Q99697.
    Orphaneti 98978. Axenfeld anomaly.
    782. Axenfeld-Rieger syndrome.
    334. Familial atrial fibrillation.
    708. Peters anomaly.
    91483. Rieger anomaly.
    91481. Ring dermoid of cornea.
    PharmGKBi PA33339.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG249113.
    HOVERGENi HBG068770.
    KOi K04686.
    OMAi DMYPSYT.
    OrthoDBi EOG7VTDNW.
    PhylomeDBi Q99697.
    TreeFami TF351940.

    Enzyme and pathway databases

    SignaLinki Q99697.

    Miscellaneous databases

    ChiTaRSi PITX2. human.
    EvolutionaryTracei Q99697.
    GeneWikii PITX2.
    GenomeRNAii 5308.
    NextBioi 20518.
    PROi Q99697.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99697.
    Bgeei Q99697.
    CleanExi HS_PITX2.
    Genevestigatori Q99697.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR016233. Homeobox_Pitx/unc30.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome."
      Semina E.V., Reiter R., Leysens N.J., Alward W.L.M., Small K.W., Datson N.A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., Zabel B.U., Carey J.C., Murray J.C.
      Nat. Genet. 14:392-399(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2B), VARIANTS RIEG1 GLN-100; PRO-114 AND PRO-137.
      Tissue: Craniofacial and Fetal brain.
    2. "Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene."
      Arakawa H., Nakamura T., Zhadanov A.B., Fidanza Y., Yano T., Bullrich F., Shimizu M., Blechman J., Mazo A., Canaani E., Croce C.M.
      Proc. Natl. Acad. Sci. U.S.A. 95:4573-4578(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A; PTX2B AND PTX2C), ALTERNATIVE SPLICING.
    3. "Spectrum and frequency of PITX2 mutations in patients with Rieger syndrome and related ocular anomalies."
      Semina E.V., Funkhauser C., Bitoun P., Daack-Hirsch S., Alward W.L.M., Amendt B., Murray J.C.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM PTX2A).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2A; PTX2B AND PTX2C).
      Tissue: Placenta and Tongue.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2C AND PTX2A).
      Tissue: Lung and Uterus.
    7. "Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant."
      Doerdelmann T., Kojetin D.J., Baird-Titus J.M., Solt L.A., Burris T.P., Rance M.
      Biochemistry 51:665-676(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 85-144 OF WILD-TYPE AND MUTANT HIS-108 IN COMPLEX WITH DNA, VARIANT RDC HIS-108.
    8. "Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene."
      Alward W.L.M., Semina E.V., Kalenak J.W., Heon E., Sheth B.P., Stone E.M., Murray J.C.
      Am. J. Ophthalmol. 125:98-100(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT IRID2 TRP-130.
    9. "Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome."
      Kulak S.C., Kozlowski K., Semina E.V., Pearce W.G., Walter M.A.
      Hum. Mol. Genet. 7:1113-1117(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT IRID2 HIS-115.
    10. "A mutation in the RIEG1 gene associated with Peters' anomaly."
      Doward W., Perveen R., Lloyd I.C., Ridgway A.E.A., Wilson L., Black G.C.M.
      J. Med. Genet. 36:152-155(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PETAN.
    11. "Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations."
      Perveen R., Lloyd I.C., Clayton-Smith J., Churchill A., van Heyningen V., Hanson I., Taylor D., McKeown C., Super M., Kerr B., Winter R., Black G.C.M.
      Invest. Ophthalmol. Vis. Sci. 41:2456-2460(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RIEG1 GLU-134 AND CYS-136.
    12. "Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome."
      Priston M., Kozlowski K., Gill D., Letwin K., Buys Y., Levin A.V., Walter M.A., Heon E.
      Hum. Mol. Genet. 10:1631-1638(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129, CHARACTERIZATION OF VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129.
    13. "Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome."
      Phillips J.C.
      Ophthalmic Res. 34:324-326(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RIEG1 LEU-110; CYS-136; VAL-151 AND THR-154.
    14. "Mutation in PITX2 is associated with ring dermoid of the cornea."
      Xia K., Wu L., Liu X., Xi X., Liang D., Zheng D., Cai F., Pan Q., Long Z., Dai H., Hu Z., Tang B., Zhang Z., Xia J.
      J. Med. Genet. 41:E129-E129(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RDC HIS-108.
    15. "Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations."
      Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
      Invest. Ophthalmol. Vis. Sci. 47:3846-3852(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RIEG1 LEU-110 AND ARG-110.
    16. Erratum
      Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B., Gramer E.
      Invest. Ophthalmol. Vis. Sci. 47:5162-5162(2006)

    Entry informationi

    Entry nameiPITX2_HUMAN
    AccessioniPrimary (citable) accession number: Q99697
    Secondary accession number(s): A8K6C6
    , B2RA02, B3KXS0, O60578, O60579, O60580, Q3KQX9, Q9BY17
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 15, 1999
    Last modified: October 1, 2014
    This is version 158 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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. 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3