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Protein Ontology Report - PITX2

PR:000000117 - http://purl.obolibrary.org/obo/PR_000000117
Ontology Information
PRO ID PR:000000117 Show OBO stanza / PAF
PRO name pituitary homeobox 2
Synonyms
PRO-short-label: EXACT: PITX2
Gene-based: RELATED: ARP1 | Brx1 | Otlx2 | Ptx2 | RGS | RIEG | RIEG1
Other: EXACT: ALL1-responsive protein ARP1 | BRX1 homeoprotein | RIEG bicoid-related homeobox transcription factor | homeobox protein PITX2 | orthodenticle-like homeobox 2 | paired-like homeodomain transcription factor 2 | paired-like homeodomain transcription factor Munc 30 | solurshin
Definition A ptx homeobox protein that is a translation product of the human PITX2 gene or a 1:1 ortholog thereof. The PITX2 gene contains 6 conserved exons. [PRO:CNA]
PRO Category gene
Parent PR:000000022 ptx homeobox protein
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 5
sequence 4 organism-sequence 21
modification 0 organism-modification 0
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape

Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000036294
hPITX2/iso:4
acts_upstream_of_or_within GO:0043433 negative regulation of DNA-binding transcription factor activity PMID:11948188
enables GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
enables GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188
enables NOT GO:0003677 DNA binding PMID:11948188
PR:P97474-1
mPITX2/iso:Ptx2B
acts_upstream_of_or_within GO:0016055 Wnt signaling pathway PMID:12464179
acts_upstream_of_or_within GO:0007368 determination of left/right symmetry PMID:12397115
part_of GO:0005667 transcription factor complex PMID:12464179, PMID:15385555
PR:P97474-3
mPITX2/iso:Ptx2A
acts_upstream_of_or_within GO:0031532 actin cytoskeleton reorganization PMID:11854422
acts_upstream_of_or_within GO:0007266 Rho protein signal transduction PMID:11854422
acts_upstream_of_or_within NOT GO:0007368 determination of left/right symmetry PMID:10585561
acts_upstream_of_or_within GO:0043388 positive regulation of DNA binding MGI:3796777, PMID:18458156
enables GO:0008134 transcription factor binding PMID:15385555
enables GO:0003712 transcription coregulator activity MGI:3796777, PMID:18458156
enables GO:0005515 protein binding with PR:Q9JM73 mSRF MGI:3796777, PMID:18458156
enables GO:0003677 DNA binding MGI:3796777, PMID:18458156
enables GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific MGI:3796777, PMID:18458156
located_in GO:0005634 nucleus MGI:3796777, PMID:18458156
located_in GO:0005634 nucleus PMID:11854422
PR:Q99697-1
hPITX2/iso:Ptx2B
acts_upstream_of_or_within GO:0007368 determination of left/right symmetry PMID:9708732
acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:9618168
enables GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188
enables GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:P97474-2
mPITX2/iso:Ptx2C
acts_upstream_of_or_within GO:0007368 determination of left/right symmetry PMID:9708732
acts_upstream_of_or_within GO:2000288 positive regulation of myoblast proliferation MGI:3686567, PMID:16958127
acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:10585561
acts_upstream_of_or_within GO:0007520 myoblast fusion MGI:3686567, PMID:16958127
acts_upstream_of_or_within GO:0007179 transforming growth factor beta receptor signaling pathway PMID:10585561
PR:000000302
hPITX2/var:R137P
Arg-137, CHEBI:50342 		associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000301
hPITX2/var:R115H
Arg-115, CHEBI:29979 		associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9618168
PR:000000300
hPITX2/var:T114P
Thr-114, CHEBI:50342 		associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000299
hPITX2/var:L100Q
Leu-100, CHEBI:30011 		associated_with_disease_progression DOID:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000298
hPITX2/var:R89W
Arg-89, CHEBI:29954 		associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9437321
PR:Q99697-3
hPITX2/iso:Ptx2A
enables GO:0008134 transcription factor binding PMID:16449236
enables GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
located_in GO:0005634 nucleus PMID:16449236
PR:Q99697-2
hPITX2/iso:Ptx2C
acts_upstream_of_or_within GO:0007507 heart development PMID:11948188
enables GO:0003677 DNA binding PMID:11948188
enables GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188
enables GO:0005515 protein binding with PR:Q99697-1 hPITX2/iso:Ptx2B PMID:11948188
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005634 nucleus PR:P97474-3 mPITX2/iso:Ptx2A

MGI:3796777, PMID:18458156
PR:P97474-3 mPITX2/iso:Ptx2A

PMID:11854422
PR:Q99697-3 hPITX2/iso:Ptx2A

PMID:16449236

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