PITX2
entrez
5308
canonical
uniprot
Q99697
canonical
ensembl
ENSG00000164093
resolver
ensp
ENSP00000347004
resolver
ensp
ENSP00000347192
resolver
ensp
ENSP00000378095
resolver
ensp
ENSP00000421454
resolver
ensp
ENSP00000495061
resolver
genesymbol
PITX2
resolver
genesymbol_syn
ARP1
resolver
genesymbol_syn
RGS
resolver
genesymbol_syn
RIEG
resolver
genesymbol_syn
RIEG1
resolver
hgnc
HGNC:9005
resolver
uniprot
A8K6C6
resolver
uniprot
B2RA02
resolver
uniprot
B3KXS0
resolver
uniprot
O60578
resolver
uniprot
O60579
resolver
uniprot
O60580
resolver
uniprot
Q3KQX9
resolver
uniprot
Q9BY17
resolver
uniprot_entry
PITX2_HUMAN
resolver
uniprot_sec
A8K6C6
resolver
uniprot_sec
B2RA02
resolver
uniprot_sec
B3KXS0
resolver
uniprot_sec
O60578
resolver
uniprot_sec
O60579
resolver
uniprot_sec
O60580
resolver
uniprot_sec
Q3KQX9
resolver
uniprot_sec
Q9BY17
resolver
amino_acid_sequence
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV
uniprot
proteins
disease_involvement
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 variants 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 variants 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation. {ECO:0000250|UniProtKB:P97474}.; FUNCTION: [Isoform PTX2C]: Involved in the establishment of left-right asymmetry in the developing embryo. {ECO:0000250|UniProtKB:P97474}.
uniprot
proteins
mass_dalton
35370
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Thr-90 by AKT2, but not AKT1. Phosphorylation impairs its association with a CCND1 mRNA-stabilizing complex, thus shortening the half-life of CCND1. {ECO:0000250|UniProtKB:P97474}.
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10051017
uniprot
proteins
pubmed
10937553
uniprot
proteins
pubmed
11487566
uniprot
proteins
pubmed
12381896
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15591271
uniprot
proteins
pubmed
16936096
uniprot
proteins
pubmed
20881294
uniprot
proteins
pubmed
22224469
uniprot
proteins
pubmed
22919265
uniprot
proteins
pubmed
8944018
uniprot
proteins
pubmed
9437321
uniprot
proteins
pubmed
9539779
uniprot
proteins
pubmed
9618168
uniprot
proteins
sequence_length
317
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:P97474}.
uniprot
proteins