Entry Report [PIR]

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 human .

Protein Forms Annotations

Ontology Information

PRO ID

PR:Q99697 Show OBO stanza / PAF

PRO name

pituitary homeobox protein 2 (human)

Synonyms

PRO-short-label:

hPITX2

Definition

A pituitary homeobox protein 2 that is encoded in the genome of human. [PRO:CNA, UniProtKB:Q99697]

PRO Category

organism-gene

Parent

PR:000000117 pituitary homeobox protein 2

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	HGNC:9005, Reactome:R-HSA-8864726, UniProtKB:Q99697

Interactive Sequence View Select/align proteoforms across species

Protein Forms

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	has_function	GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	has_function	NOT GO:0003677 DNA binding	PMID:11948188
	has_function	GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
	participates_in	GO:0043433 negative regulation of DNA-binding transcription factor activity	PMID:11948188
PR:Q99697-3 hPITX2/iso:Ptx2A	has_function	GO:0008134 transcription factor binding	PMID:16449236
	has_function	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	has_function	GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	has_function	GO:0005515 protein binding with PR:Q99697-1 hPITX2/iso:Ptx2B	PMID:11948188
	has_function	GO:0003677 DNA binding	PMID:11948188
	participates_in	GO:0007507 heart development	PMID:11948188
PR:Q99697-1 hPITX2/iso:Ptx2B	has_function	GO:0005515 protein binding with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	has_function	GO:0005515 protein binding with PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
	participates_in	GO:0009887 animal organ morphogenesis	PMID:9618168
	participates_in	GO:0007368 determination of left/right symmetry	PMID:9708732
PR:000000302 hPITX2/var:R137P Arg-137, CHEBI:50342	associated_with_disease_progression	DOID:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000000302 hPITX2/var:R137P Arg-137, CHEBI:50342	has_agent	SO:0001606 amino_acid_substitution	PMID:8944018
PR:000000301 hPITX2/var:R115H Arg-115, CHEBI:29979	associated_with_disease_progression	DOID:0050786 iridogoniodysgenesis syndrome	PMID:9618168
PR:000000301 hPITX2/var:R115H Arg-115, CHEBI:29979	has_agent	SO:0001606 amino_acid_substitution	PMID:9618168
PR:000000300 hPITX2/var:T114P Thr-114, CHEBI:50342	associated_with_disease_progression	DOID:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000000300 hPITX2/var:T114P Thr-114, CHEBI:50342	has_agent	SO:0001606 amino_acid_substitution	PMID:8944018
PR:000000299 hPITX2/var:L100Q Leu-100, CHEBI:30011	associated_with_disease_progression	DOID:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000000299 hPITX2/var:L100Q Leu-100, CHEBI:30011	has_agent	SO:0001606 amino_acid_substitution	PMID:8944018
PR:000000298 hPITX2/var:R89W Arg-89, CHEBI:29954	associated_with_disease_progression	DOID:0050786 iridogoniodysgenesis syndrome	PMID:9437321
PR:000000298 hPITX2/var:R89W Arg-89, CHEBI:29954	has_agent	SO:0001606 amino_acid_substitution	PMID:9437321

Molecular Function GO Term	Protein Forms & Complexes	Evidence
NOT GO:0003677 DNA binding	PR:000036294 hPITX2/iso:4	PMID:11948188
GO:0003677 DNA binding	PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
GO:0005515 protein binding	PR:000036294 hPITX2/iso:4 with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	PR:000036294 hPITX2/iso:4 with PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
	PR:Q99697-1 hPITX2/iso:Ptx2B with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	PR:Q99697-1 hPITX2/iso:Ptx2B with PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
	PR:Q99697-2 hPITX2/iso:Ptx2C with PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:11948188
	PR:Q99697-2 hPITX2/iso:Ptx2C with PR:Q99697-1 hPITX2/iso:Ptx2B	PMID:11948188
	PR:Q99697-3 hPITX2/iso:Ptx2A with PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
GO:0008134 transcription factor binding	PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:16449236

Biological Process GO Term	Protein Forms & Complexes	Evidence
GO:0009887 animal organ morphogenesis	PR:Q99697-1 hPITX2/iso:Ptx2B	PMID:9618168
GO:0007507 heart development	PR:Q99697-2 hPITX2/iso:Ptx2C	PMID:11948188
GO:0043433 negative regulation of DNA-binding transcription factor activity	PR:000036294 hPITX2/iso:4	PMID:11948188
GO:0007368 determination of left/right symmetry	PR:Q99697-1 hPITX2/iso:Ptx2B	PMID:9708732

Cellular Location GO Term	Protein Forms & Complexes	Evidence
GO:0005634 nucleus	PR:Q99697-3 hPITX2/iso:Ptx2A	PMID:16449236

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