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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 .
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


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
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
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
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
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
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
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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