Protein Ontology Report - hPITX2 PR:Q99697 - http://purl.obolibrary.org/obo/PR_Q99697

This page represents a class of proteins encompassing all the protein products of the PITX2 gene in Homo sapiens.

Ontology Information
PRO ID	PR:Q99697 Show OBO stanza / PAF / GPI
PRO name	pituitary homeobox 2 (human)
Synonyms	PRO-short-label: EXACT: hPITX2 Gene-based: RELATED: ARP1 | PITX2 | RGS | RIEG | RIEG1 Other: EXACT: ALL1-responsive protein ARP1 (human) | RIEG bicoid-related homeobox transcription factor (human) | homeobox protein PITX2 (human) | paired-like homeodomain transcription factor 2 (human) | solurshin (human)
Definition	A pituitary homeobox 2 that is encoded in the genome of human. [PRO:CNA, UniProtKB:Q99697]
PRO Category	organism-gene
Parent	PR:000000117 pituitary homeobox 2
Gene Template	HGNC:9005 PITX2
Taxon	NCBITaxon:9606 Homo sapiens
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Specific Category Number of Terms organism-gene 1 organism-sequence 9 organism-modification 0
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	Reactome:R-HSA-8864726, UniProtKB:Q99697

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All organism-gene organism-sequence
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View

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:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188 enables GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188 enables NOT GO:0003677 DNA binding PMID:11948188 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: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 enables GO:0003677 DNA binding PMID:11948188 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:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188 enables GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188 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 Cellular Location GO Term Protein Forms & Complexes Evidence GO:0005634 nucleus PR:Q99697-3 hPITX2/iso:Ptx2A PMID:16449236

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