Gene: Pitx2

Basic information

Tag Content
Uniprot ID P97474; O08646; O70336; P97933; Q9JLA0; Q9QXB8; Q9R1V9; Q9Z141;
Entrez ID 18741
Genbank protein ID CAB65259.1; AAB38505.1; AAF44618.1; AAB38864.1; BAA75247.1; AAC40086.1; AAC53119.1; AAC40087.1; BAA75248.1; AAC53120.1;
Genbank nucleotide ID NM_001042502.2; NM_001042504.2; NM_011098.4; XM_006501131.3; XM_006501132.2; XM_006501133.1;
Ensembl protein ID ENSMUSP00000134692; ENSMUSP00000047359; ENSMUSP00000133756; ENSMUSP00000101990;
Ensembl nucleotide ID ENSMUSG00000028023
Gene name Pituitary homeobox 2
Gene symbol Pitx2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 10499585
Functional description 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.
Sequence
METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PKSRKESASS KLFPRQHPGA 60
NEKDKGQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV 120
WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA 180
AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN 240
SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300
NPASNLSACQ YAVDRPV 317

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPITX2506721A5D7J4Bos taurusPredictionMore>>
1:1 orthologPITX2487902E2R5R2Canis lupus familiarisPredictionMore>>
1:1 orthologPITX2102180740A0A452E417Capra hircusPredictionMore>>
1:1 orthologPITX25308Q99697Homo sapiensPredictionMore>>
1:1 orthologPitx218741P97474CPOE14.5Mus musculusPublicationMore>>
1:1 orthologPITX2461438K7DFT6Pan troglodytesPredictionMore>>
1:1 orthologPITX2A0A287AUF8Sus scrofaPredictionMore>>
1:1 orthologPitx254284Q9R0W1Rattus norvegicusPredictionMore>>
1:1 orthologpitx230164Q9W5Z2Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000976 transcription regulatory region sequence-specific DNA bindingISO
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingISO
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIBA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISO
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIDA
GO:0001085 RNA polymerase II transcription factor bindingISO
GO:0001085 RNA polymerase II transcription factor bindingIBA
GO:0001102 RNA polymerase II activating transcription factor bindingISO
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specificISO
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificISO
GO:0003682 chromatin bindingIDA
GO:0003700 DNA-binding transcription factor activityISO
GO:0003700 DNA-binding transcription factor activityIDA
GO:0005515 protein bindingIPI
GO:0008134 transcription factor bindingISO
GO:0031490 chromatin DNA bindingIDA
GO:0042802 identical protein bindingISO
GO:0042803 protein homodimerization activityISO
GO:0043565 sequence-specific DNA bindingIDA
GO:0043565 sequence-specific DNA bindingIBA
GO:0051219 phosphoprotein bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISO
GO:0001569 branching involved in blood vessel morphogenesisIMP
GO:0001570 vasculogenesisIMP
GO:0001701 in utero embryonic developmentIMP
GO:0001764 neuron migrationIMP
GO:0002074 extraocular skeletal muscle developmentIMP
GO:0003171 atrioventricular valve developmentIMP
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesisIMP
GO:0003350 pulmonary myocardium developmentIMP
GO:0006355 regulation of transcription, DNA-templatedISO
GO:0006357 regulation of transcription by RNA polymerase IIISO
GO:0006357 regulation of transcription by RNA polymerase IIIDA
GO:0006357 regulation of transcription by RNA polymerase IIIGI
GO:0007368 determination of left/right symmetryIMP
GO:0007507 heart developmentIMP
GO:0007507 heart developmentIGI
GO:0007519 skeletal muscle tissue developmentIMP
GO:0008584 male gonad developmentIEA
GO:0008585 female gonad developmentIEA
GO:0009653 anatomical structure morphogenesisIMP
GO:0009653 anatomical structure morphogenesisIBA
GO:0009725 response to hormoneIEA
GO:0009887 animal organ morphogenesisIMP
GO:0016055 Wnt signaling pathwayIDA
GO:0021763 subthalamic nucleus developmentIMP
GO:0021855 hypothalamus cell migrationIMP
GO:0021983 pituitary gland developmentIMP
GO:0030182 neuron differentiationIEA
GO:0030324 lung developmentIMP
GO:0030334 regulation of cell migrationIMP
GO:0031076 embryonic camera-type eye developmentIMP
GO:0033189 response to vitamin AIEA
GO:0035116 embryonic hindlimb morphogenesisIGI
GO:0035886 vascular smooth muscle cell differentiationIMP
GO:0035993 deltoid tuberosity developmentISO
GO:0035993 deltoid tuberosity developmentIMP
GO:0042127 regulation of cell population proliferationIMP
GO:0042475 odontogenesis of dentin-containing toothIEA
GO:0042476 odontogenesisISO
GO:0042476 odontogenesisIMP
GO:0043010 camera-type eye developmentISO
GO:0043388 positive regulation of DNA bindingIDA
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIISO
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048536 spleen developmentIMP
GO:0048557 embryonic digestive tract morphogenesisIMP
GO:0048738 cardiac muscle tissue developmentIMP
GO:0055007 cardiac muscle cell differentiationIMP
GO:0055009 atrial cardiac muscle tissue morphogenesisIMP
GO:0055015 ventricular cardiac muscle cell developmentIMP
GO:0055123 digestive system developmentIMP
GO:0060412 ventricular septum morphogenesisIMP
GO:0060460 left lung morphogenesisIMP
GO:0060577 pulmonary vein morphogenesisIMP
GO:0060578 superior vena cava morphogenesisIMP
GO:0061031 endodermal digestive tract morphogenesisIMP
GO:0061072 iris morphogenesisISO
GO:0061325 cell proliferation involved in outflow tract morphogenesisIMP
GO:0070986 left/right axis specificationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005667 transcription factor complexISO
GO:0005667 transcription factor complexIDA
GO:0005737 cytoplasmIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0024 Alternative initiation
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR016233 Homeobox_Pitx/unc30
IPR003654 OAR_dom

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS50803 OAR

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF03826 OAR

Protein-protein interaction

Protein-miRNA interaction