Gene: Pitx2

Basic information

Tag Content
Uniprot ID Q9R0W1
Entrez ID 54284
Genbank protein ID CAB52283.1; CAB52284.1; AAC70909.1;
Genbank nucleotide ID XM_017591054.1; NM_001042505.1; NM_019334.2;
Ensembl protein ID ENSRNOP00000043402; ENSRNOP00000046259;
Ensembl nucleotide ID ENSRNOG00000010681
Gene name Pituitary homeobox 2
Gene symbol Pitx2
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
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 (By similarity).
Sequence
MNCMKGPLPL EHRAAGTKLS AASSPFCHHT QALAMASVLA PGQPRSLDAS KHRLEVHTIS 60
DTSSPEVAEK DKGQQGKNED VGAEDPSKKK RQRRQRTHFT SQQLQELEAT FQRNRYPDMS 120
TREEIAVWTN LTEARVRVWF KNRRAKWRKR ERNQQAELCK NGFGPQFNGL MQPYDDMYPG 180
YSYNNWAAKG LTSASLSTKS FPFFNSMNVN PLSSQSMFSP PNSISSMSMS SSMVPSAVTG 240
VPGSSLNSLN NLNNLSSPSL NSAVPTPACP YAPPTPPYVY RDTCNSSLAS LRLKAKQHSS 300
FGYASVQNPA SNLSACQYAV DRPV 324

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.

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>>

Gene ontology

GO ID GO Term
GO:0005737 cytoplasm
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0003682 chromatin binding
GO:0031490 chromatin DNA binding
GO:0003677 DNA binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0042802 identical protein binding
GO:0051219 phosphoprotein binding
GO:0042803 protein homodimerization activity
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0009653 anatomical structure morphogenesis
GO:0009887 animal organ morphogenesis
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0003171 atrioventricular valve development
GO:0007420 brain development
GO:0001569 branching involved in blood vessel morphogenesis
GO:0043010 camera-type eye development
GO:0055007 cardiac muscle cell differentiation
GO:0048738 cardiac muscle tissue development
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0061325 cell proliferation involved in outflow tract morphogenesis
GO:0035993 deltoid tuberosity development
GO:0007368 determination of left/right symmetry
GO:0055123 digestive system development
GO:0031076 embryonic camera-type eye development
GO:0048557 embryonic digestive tract morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0061031 endodermal digestive tract morphogenesis
GO:0002074 extraocular skeletal muscle development
GO:0008585 female gonad development
GO:0007507 heart development
GO:0021855 hypothalamus cell migration
GO:0001701 in utero embryonic development
GO:0061072 iris morphogenesis
GO:0060460 left lung morphogenesis
GO:0070986 left/right axis specification
GO:0030324 lung development
GO:0008584 male gonad development
GO:0007520 myoblast fusion
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0030182 neuron differentiation
GO:0001764 neuron migration
GO:0042476 odontogenesis
GO:0042475 odontogenesis of dentin-containing tooth
GO:0021983 pituitary gland development
GO:0043388 positive regulation of DNA binding
GO:2000288 positive regulation of myoblast proliferation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0045893 positive regulation of transcription, DNA-templated
GO:0003350 pulmonary myocardium development
GO:0060577 pulmonary vein morphogenesis
GO:0030334 regulation of cell migration
GO:0042127 regulation of cell population proliferation
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006355 regulation of transcription, DNA-templated
GO:0009725 response to hormone
GO:0033189 response to vitamin A
GO:0007519 skeletal muscle tissue development
GO:0048536 spleen development
GO:0021763 subthalamic nucleus development
GO:0060578 superior vena cava morphogenesis
GO:0035886 vascular smooth muscle cell differentiation
GO:0001570 vasculogenesis
GO:0055015 ventricular cardiac muscle cell development
GO:0060412 ventricular septum morphogenesis
GO:0016055 Wnt signaling pathway

Functional annotations

Keywords

Keyword ID Keyword Term
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