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Pituitary homeobox 2 (ALL1-responsive protein ARP1) (Homeobox protein PITX2) (Paired-like homeodomain transcription factor 2) (RIEG bicoid-related homeobox transcription factor) (Solurshin)

 PITX2_HUMAN             Reviewed;         317 AA.
Q99697; A8K6C6; B2RA02; B3KXS0; O60578; O60579; O60580; Q3KQX9;
Q9BY17;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
15-JUL-1999, sequence version 2.
22-NOV-2017, entry version 188.
RecName: Full=Pituitary homeobox 2;
AltName: Full=ALL1-responsive protein ARP1;
AltName: Full=Homeobox protein PITX2;
AltName: Full=Paired-like homeodomain transcription factor 2;
AltName: Full=RIEG bicoid-related homeobox transcription factor;
AltName: Full=Solurshin;
Name=PITX2; Synonyms=ARP1, RGS, RIEG, RIEG1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2B), AND VARIANTS RIEG1
GLN-100; PRO-114 AND PRO-137.
TISSUE=Craniofacial, and Fetal brain;
PubMed=8944018; DOI=10.1038/ng1296-392;
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.;
"Cloning and characterization of a novel bicoid-related homeobox
transcription factor gene, RIEG, involved in Rieger syndrome.";
Nat. Genet. 14:392-399(1996).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A; PTX2B AND PTX2C), AND
ALTERNATIVE SPLICING.
PubMed=9539779; DOI=10.1073/pnas.95.8.4573;
Arakawa H., Nakamura T., Zhadanov A.B., Fidanza Y., Yano T.,
Bullrich F., Shimizu M., Blechman J., Mazo A., Canaani E., Croce C.M.;
"Identification and characterization of the ARP1 gene, a target for
the human acute leukemia ALL1 gene.";
Proc. Natl. Acad. Sci. U.S.A. 95:4573-4578(1998).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM PTX2A).
Semina E.V., Funkhauser C., Bitoun P., Daack-Hirsch S., Alward W.L.M.,
Amendt B., Murray J.C.;
"Spectrum and frequency of PITX2 mutations in patients with Rieger
syndrome and related ocular anomalies.";
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2A; PTX2B AND
PTX2C).
TISSUE=Placenta, and Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS PTX2C AND PTX2A).
TISSUE=Lung, and Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
STRUCTURE BY NMR OF 85-144 OF WILD-TYPE AND MUTANT HIS-108 IN COMPLEX
WITH DNA, AND VARIANT RDC HIS-108.
PubMed=22224469; DOI=10.1021/bi201639x;
Doerdelmann T., Kojetin D.J., Baird-Titus J.M., Solt L.A.,
Burris T.P., Rance M.;
"Structural and biophysical insights into the ligand-free Pitx2
homeodomain and a ring dermoid of the cornea inducing homeodomain
mutant.";
Biochemistry 51:665-676(2012).
[8]
VARIANT ASGD4 TRP-130.
PubMed=9437321; DOI=10.1016/S0002-9394(99)80242-6;
Alward W.L.M., Semina E.V., Kalenak J.W., Heon E., Sheth B.P.,
Stone E.M., Murray J.C.;
"Autosomal dominant iris hypoplasia is caused by a mutation in the
Rieger syndrome (RIEG/PITX2) gene.";
Am. J. Ophthalmol. 125:98-100(1998).
[9]
VARIANT ASGD4 HIS-115.
PubMed=9618168; DOI=10.1093/hmg/7.7.1113;
Kulak S.C., Kozlowski K., Semina E.V., Pearce W.G., Walter M.A.;
"Mutation in the RIEG1 gene in patients with iridogoniodysgenesis
syndrome.";
Hum. Mol. Genet. 7:1113-1117(1998).
[10]
INVOLVEMENT IN ASGD4.
PubMed=10051017;
Doward W., Perveen R., Lloyd I.C., Ridgway A.E.A., Wilson L.,
Black G.C.M.;
"A mutation in the RIEG1 gene associated with Peters' anomaly.";
J. Med. Genet. 36:152-155(1999).
[11]
VARIANTS RIEG1 GLU-134 AND CYS-136.
PubMed=10937553;
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.;
"Phenotypic variability and asymmetry of Rieger syndrome associated
with PITX2 mutations.";
Invest. Ophthalmol. Vis. Sci. 41:2456-2460(2000).
[12]
VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129, AND CHARACTERIZATION
OF VARIANTS RIEG1 ARG-128--134-LYS DEL AND LEU-129.
PubMed=11487566; DOI=10.1093/hmg/10.16.1631;
Priston M., Kozlowski K., Gill D., Letwin K., Buys Y., Levin A.V.,
Walter M.A., Heon E.;
"Functional analyses of two newly identified PITX2 mutants reveal a
novel molecular mechanism for Axenfeld-Rieger syndrome.";
Hum. Mol. Genet. 10:1631-1638(2001).
[13]
VARIANTS RIEG1 LEU-110; CYS-136; VAL-151 AND THR-154.
PubMed=12381896; DOI=10.1159/000065602;
Phillips J.C.;
"Four novel mutations in the PITX2 gene in patients with Axenfeld-
Rieger syndrome.";
Ophthalmic Res. 34:324-326(2002).
[14]
VARIANT RDC HIS-108.
PubMed=15591271; DOI=10.1136/jmg.2004.022434;
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.;
"Mutation in PITX2 is associated with ring dermoid of the cornea.";
J. Med. Genet. 41:E129-E129(2004).
[15]
VARIANTS RIEG1 LEU-110 AND ARG-110.
PubMed=16936096; DOI=10.1167/iovs.06-0343;
Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B.,
Gramer E.;
"Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger
malformations.";
Invest. Ophthalmol. Vis. Sci. 47:3846-3852(2006).
[16]
ERRATUM.
Weisschuh N., Dressler P., Schuettauf F., Wolf C., Wissinger B.,
Gramer E.;
Invest. Ophthalmol. Vis. Sci. 47:5162-5162(2006).
[17]
VARIANT ASGD4 LEU-58 (ISOFORM PTX2A).
PubMed=20881294; DOI=10.1167/iovs.10-5309;
D'haene B., Meire F., Claerhout I., Kroes H.Y., Plomp A., Arens Y.H.,
de Ravel T., Casteels I., De Jaegere S., Hooghe S., Wuyts W.,
van den Ende J., Roulez F., Veenstra-Knol H.E., Oldenburg R.A.,
Giltay J., Verheij J.B., de Faber J.T., Menten B., De Paepe A.,
Kestelyn P., Leroy B.P., De Baere E.;
"Expanding the spectrum of FOXC1 and PITX2 mutations and copy number
changes in patients with anterior segment malformations.";
Invest. Ophthalmol. Vis. Sci. 52:324-333(2011).
-!- FUNCTION: 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). {ECO:0000250}.
-!- INTERACTION:
P35222:CTNNB1; NbExp=2; IntAct=EBI-1175211, EBI-491549;
Q12948:FOXC1; NbExp=6; IntAct=EBI-1175243, EBI-1175253;
P09022:Hoxa1 (xeno); NbExp=3; IntAct=EBI-1175211, EBI-3957603;
Q02078:MEF2A; NbExp=2; IntAct=EBI-1175243, EBI-2656305;
P10037:Pou1f1 (xeno); NbExp=2; IntAct=EBI-1175243, EBI-9825525;
P67809:YBX1; NbExp=3; IntAct=EBI-1175211, EBI-354065;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=PTX2B; Synonyms=ARP1B;
IsoId=Q99697-1; Sequence=Displayed;
Name=PTX2C; Synonyms=ARP1C;
IsoId=Q99697-2; Sequence=VSP_002260;
Name=PTX2A; Synonyms=ARP1A;
IsoId=Q99697-3; Sequence=VSP_002261;
Note=Variant in position: 58:F->L (in ASGD4).
{ECO:0000269|PubMed:20881294};
-!- PTM: Phosphorylation at Thr-90 impairs its association with the
CCND1 mRNA-stabilizing complex thus shortening the half-life of
CCND1. {ECO:0000250}.
-!- DISEASE: 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. {ECO:0000269|PubMed:10937553,
ECO:0000269|PubMed:11487566, ECO:0000269|PubMed:12381896,
ECO:0000269|PubMed:16936096, ECO:0000269|PubMed:8944018}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]: A
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. {ECO:0000269|PubMed:10051017,
ECO:0000269|PubMed:20881294, ECO:0000269|PubMed:9437321,
ECO:0000269|PubMed:9618168}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: 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. {ECO:0000269|PubMed:15591271,
ECO:0000269|PubMed:22224469}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the paired homeobox family. Bicoid
subfamily. {ECO:0000305}.
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EMBL; U69961; AAC16257.1; -; mRNA.
EMBL; AF048720; AAC39716.1; -; mRNA.
EMBL; AF048721; AAC39717.1; -; mRNA.
EMBL; AF048722; AAC39718.1; -; mRNA.
EMBL; AF238048; AAK15048.1; -; Genomic_DNA.
EMBL; AK127829; BAG54582.1; -; mRNA.
EMBL; AK291591; BAF84280.1; -; mRNA.
EMBL; AK313987; BAG36699.1; -; mRNA.
EMBL; CH471057; EAX06262.1; -; Genomic_DNA.
EMBL; CH471057; EAX06263.1; -; Genomic_DNA.
EMBL; CH471057; EAX06264.1; -; Genomic_DNA.
EMBL; BC013998; AAH13998.1; -; mRNA.
EMBL; BC106010; AAI06011.1; -; mRNA.
CCDS; CCDS3692.1; -. [Q99697-1]
CCDS; CCDS3693.1; -. [Q99697-3]
CCDS; CCDS3694.1; -. [Q99697-2]
RefSeq; NP_000316.2; NM_000325.5. [Q99697-2]
RefSeq; NP_001191326.1; NM_001204397.1. [Q99697-1]
RefSeq; NP_001191327.1; NM_001204398.1. [Q99697-1]
RefSeq; NP_001191328.1; NM_001204399.1. [Q99697-3]
RefSeq; NP_700475.1; NM_153426.2. [Q99697-1]
RefSeq; NP_700476.1; NM_153427.2. [Q99697-3]
RefSeq; XP_011530329.1; XM_011532027.2. [Q99697-3]
UniGene; Hs.643588; -.
UniGene; Hs.738484; -.
PDB; 2L7F; NMR; -; P=85-144.
PDB; 2L7M; NMR; -; P=85-144.
PDB; 2LKX; NMR; -; A=85-144.
PDBsum; 2L7F; -.
PDBsum; 2L7M; -.
PDBsum; 2LKX; -.
ProteinModelPortal; Q99697; -.
SMR; Q99697; -.
BioGrid; 111325; 18.
CORUM; Q99697; -.
IntAct; Q99697; 42.
STRING; 9606.ENSP00000304169; -.
iPTMnet; Q99697; -.
PhosphoSitePlus; Q99697; -.
BioMuta; PITX2; -.
DMDM; 6174907; -.
EPD; Q99697; -.
MaxQB; Q99697; -.
PaxDb; Q99697; -.
PeptideAtlas; Q99697; -.
PRIDE; Q99697; -.
DNASU; 5308; -.
Ensembl; ENST00000306732; ENSP00000304169; ENSG00000164093. [Q99697-2]
Ensembl; ENST00000354925; ENSP00000347004; ENSG00000164093. [Q99697-1]
Ensembl; ENST00000355080; ENSP00000347192; ENSG00000164093. [Q99697-3]
Ensembl; ENST00000394598; ENSP00000378097; ENSG00000164093. [Q99697-1]
Ensembl; ENST00000613094; ENSP00000484763; ENSG00000164093. [Q99697-1]
Ensembl; ENST00000614423; ENSP00000481951; ENSG00000164093. [Q99697-1]
Ensembl; ENST00000616641; ENSP00000484909; ENSG00000164093. [Q99697-3]
GeneID; 5308; -.
KEGG; hsa:5308; -.
UCSC; uc003iac.4; human. [Q99697-1]
CTD; 5308; -.
DisGeNET; 5308; -.
EuPathDB; HostDB:ENSG00000164093.15; -.
GeneCards; PITX2; -.
GeneReviews; PITX2; -.
HGNC; HGNC:9005; PITX2.
HPA; HPA050074; -.
HPA; HPA062728; -.
MalaCards; PITX2; -.
MIM; 137600; phenotype.
MIM; 180500; phenotype.
MIM; 180550; phenotype.
MIM; 601542; gene.
neXtProt; NX_Q99697; -.
OpenTargets; ENSG00000164093; -.
Orphanet; 98978; Axenfeld anomaly.
Orphanet; 782; Axenfeld-Rieger syndrome.
Orphanet; 334; Familial atrial fibrillation.
Orphanet; 708; Peters anomaly.
Orphanet; 91483; Rieger anomaly.
Orphanet; 91481; Ring dermoid of cornea.
PharmGKB; PA33339; -.
eggNOG; KOG0486; Eukaryota.
eggNOG; ENOG410ZZ6J; LUCA.
GeneTree; ENSGT00900000140776; -.
HOGENOM; HOG000273886; -.
HOVERGEN; HBG068770; -.
InParanoid; Q99697; -.
KO; K04686; -.
OMA; PLNIDHH; -.
OrthoDB; EOG091G0H7U; -.
PhylomeDB; Q99697; -.
TreeFam; TF351940; -.
Reactome; R-HSA-8866906; TFAP2 (AP-2) family regulates transcription of other transcription factors.
SignaLink; Q99697; -.
SIGNOR; Q99697; -.
ChiTaRS; PITX2; human.
EvolutionaryTrace; Q99697; -.
GeneWiki; PITX2; -.
GenomeRNAi; 5308; -.
PRO; PR:Q99697; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000164093; -.
CleanEx; HS_PITX2; -.
ExpressionAtlas; Q99697; baseline and differential.
Genevisible; Q99697; HS.
GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
GO; GO:0005667; C:transcription factor complex; IDA:MGI.
GO; GO:0031490; F:chromatin DNA binding; IEA:Ensembl.
GO; GO:0042802; F:identical protein binding; IPI:IntAct.
GO; GO:0051219; F:phosphoprotein binding; IPI:BHF-UCL.
GO; GO:0042803; F:protein homodimerization activity; IPI:BHF-UCL.
GO; GO:0043021; F:ribonucleoprotein complex binding; IC:BHF-UCL.
GO; GO:0001102; F:RNA polymerase II activating transcription factor binding; IPI:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0001105; F:RNA polymerase II transcription coactivator activity; IDA:BHF-UCL.
GO; GO:0001085; F:RNA polymerase II transcription factor binding; IPI:BHF-UCL.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0008134; F:transcription factor binding; IPI:UniProtKB.
GO; GO:0000976; F:transcription regulatory region sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IEA:Ensembl.
GO; GO:0001078; F:transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:BHF-UCL.
GO; GO:0001191; F:transcriptional repressor activity, RNA polymerase II transcription factor binding; IDA:BHF-UCL.
GO; GO:0055009; P:atrial cardiac muscle tissue morphogenesis; IEA:Ensembl.
GO; GO:0003171; P:atrioventricular valve development; IEA:Ensembl.
GO; GO:0001569; P:branching involved in blood vessel morphogenesis; IEA:Ensembl.
GO; GO:0043010; P:camera-type eye development; IMP:BHF-UCL.
GO; GO:0003253; P:cardiac neural crest cell migration involved in outflow tract morphogenesis; ISS:BHF-UCL.
GO; GO:0061325; P:cell proliferation involved in outflow tract morphogenesis; ISS:BHF-UCL.
GO; GO:0035993; P:deltoid tuberosity development; IMP:BHF-UCL.
GO; GO:0007368; P:determination of left/right symmetry; ISS:BHF-UCL.
GO; GO:0031076; P:embryonic camera-type eye development; IEA:Ensembl.
GO; GO:0048557; P:embryonic digestive tract morphogenesis; IEA:Ensembl.
GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl.
GO; GO:0061031; P:endodermal digestive tract morphogenesis; IEA:Ensembl.
GO; GO:0002074; P:extraocular skeletal muscle development; IEA:Ensembl.
GO; GO:0008585; P:female gonad development; IEA:Ensembl.
GO; GO:0035315; P:hair cell differentiation; IC:BHF-UCL.
GO; GO:0021855; P:hypothalamus cell migration; IEA:Ensembl.
GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
GO; GO:0061072; P:iris morphogenesis; IMP:BHF-UCL.
GO; GO:0060460; P:left lung morphogenesis; IEA:Ensembl.
GO; GO:0070986; P:left/right axis specification; ISS:BHF-UCL.
GO; GO:0008584; P:male gonad development; IEA:Ensembl.
GO; GO:0007520; P:myoblast fusion; IEA:Ensembl.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
GO; GO:0001764; P:neuron migration; IEA:Ensembl.
GO; GO:0042476; P:odontogenesis; IMP:BHF-UCL.
GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:Ensembl.
GO; GO:0043388; P:positive regulation of DNA binding; IEA:Ensembl.
GO; GO:2000288; P:positive regulation of myoblast proliferation; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
GO; GO:0060127; P:prolactin secreting cell differentiation; TAS:BHF-UCL.
GO; GO:0003350; P:pulmonary myocardium development; IEA:Ensembl.
GO; GO:0060577; P:pulmonary vein morphogenesis; IEA:Ensembl.
GO; GO:0030334; P:regulation of cell migration; IEA:Ensembl.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; IDA:MGI.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0009725; P:response to hormone; IEA:Ensembl.
GO; GO:0033189; P:response to vitamin A; IEA:Ensembl.
GO; GO:0060126; P:somatotropin secreting cell differentiation; TAS:BHF-UCL.
GO; GO:0048536; P:spleen development; ISS:BHF-UCL.
GO; GO:0021763; P:subthalamic nucleus development; IEA:Ensembl.
GO; GO:0060578; P:superior vena cava morphogenesis; IEA:Ensembl.
GO; GO:0035886; P:vascular smooth muscle cell differentiation; IEA:Ensembl.
GO; GO:0001570; P:vasculogenesis; IEA:Ensembl.
GO; GO:0055015; P:ventricular cardiac muscle cell development; IEA:Ensembl.
GO; GO:0060412; P:ventricular septum morphogenesis; IEA:Ensembl.
GO; GO:0016055; P:Wnt signaling pathway; IEA:Ensembl.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR016233; Homeobox_Pitx/unc30.
InterPro; IPR003654; OAR_dom.
Pfam; PF00046; Homeobox; 1.
Pfam; PF03826; OAR; 1.
PIRSF; PIRSF000563; Homeobox_protein_Pitx/Unc30; 1.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
PROSITE; PS50803; OAR; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Developmental protein; Disease mutation; DNA-binding; Homeobox;
Nucleus; Peters anomaly; Phosphoprotein; Reference proteome.
CHAIN 1 317 Pituitary homeobox 2.
/FTId=PRO_0000049223.
DNA_BIND 85 144 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
MOTIF 279 292 OAR. {ECO:0000255|PROSITE-
ProRule:PRU00138}.
MOTIF 285 289 Nuclear localization signal.
{ECO:0000255}.
MOD_RES 90 90 Phosphothreonine; by PKB/AKT2.
{ECO:0000250}.
VAR_SEQ 1 61 METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSP
ESRKEAASSKFFPRQHPGAN -> MNCMKGPLHLEHRAAGT
KLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHT
ISDTSSPEAA (in isoform PTX2C).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9539779}.
/FTId=VSP_002260.
VAR_SEQ 16 61 Missing (in isoform PTX2A).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:9539779}.
/FTId=VSP_002261.
VARIANT 100 100 L -> Q (in RIEG1; dbSNP:rs104893857).
{ECO:0000269|PubMed:8944018}.
/FTId=VAR_003763.
VARIANT 108 108 R -> H (in RDC; results in 25% loss of
transactivation activity;
dbSNP:rs104893862).
{ECO:0000269|PubMed:15591271,
ECO:0000269|PubMed:22224469}.
/FTId=VAR_035027.
VARIANT 110 110 P -> L (in RIEG1).
{ECO:0000269|PubMed:12381896,
ECO:0000269|PubMed:16936096}.
/FTId=VAR_058735.
VARIANT 110 110 P -> R (in RIEG1).
{ECO:0000269|PubMed:16936096}.
/FTId=VAR_058736.
VARIANT 114 114 T -> P (in RIEG1; dbSNP:rs104893858).
{ECO:0000269|PubMed:8944018}.
/FTId=VAR_003764.
VARIANT 115 115 R -> H (in ASGD4; dbSNP:rs104893861).
{ECO:0000269|PubMed:9618168}.
/FTId=VAR_003765.
VARIANT 128 134 Missing (in RIEG1; more than 100-fold
reduction in DNA binding activity as well
as no detectable transactivation
activity).
/FTId=VAR_035028.
VARIANT 129 129 V -> L (in RIEG1; more than 200% increase
in transactivation activity;
dbSNP:rs121909249).
{ECO:0000269|PubMed:11487566}.
/FTId=VAR_035029.
VARIANT 130 130 R -> W (in ASGD4; dbSNP:rs121909248).
{ECO:0000269|PubMed:9437321}.
/FTId=VAR_003762.
VARIANT 134 134 K -> E (in RIEG1; dbSNP:rs387906810).
{ECO:0000269|PubMed:10937553}.
/FTId=VAR_058737.
VARIANT 136 136 R -> C (in RIEG1).
{ECO:0000269|PubMed:10937553,
ECO:0000269|PubMed:12381896}.
/FTId=VAR_058738.
VARIANT 137 137 R -> P (in RIEG1; dbSNP:rs104893859).
{ECO:0000269|PubMed:8944018}.
/FTId=VAR_003766.
VARIANT 151 151 L -> V (in RIEG1).
{ECO:0000269|PubMed:12381896}.
/FTId=VAR_058739.
VARIANT 154 154 N -> T (in RIEG1).
{ECO:0000269|PubMed:12381896}.
/FTId=VAR_058740.
CONFLICT 13 13 V -> L (in Ref. 1 and 3). {ECO:0000305}.
CONFLICT 99 99 E -> Q (in Ref. 1; AAC16257).
{ECO:0000305}.
CONFLICT 127 127 A -> T (in Ref. 4; BAF84280).
{ECO:0000305}.
CONFLICT 301 301 N -> K (in Ref. 1 and 3). {ECO:0000305}.
STRAND 86 88 {ECO:0000244|PDB:2L7M}.
STRAND 90 92 {ECO:0000244|PDB:2L7M}.
HELIX 94 106 {ECO:0000244|PDB:2L7F}.
HELIX 112 122 {ECO:0000244|PDB:2L7F}.
HELIX 126 141 {ECO:0000244|PDB:2L7F}.
SEQUENCE 317 AA; 35370 MW; 00853AFDBA4433CB CRC64;
METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS KFFPRQHPGA
NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV
WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA
AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN
SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ
NPASNLSACQ YAVDRPV


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