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Protein Ontology report - pituitary homeobox 2 (human)
PR:Q99697 - http://purl.obolibrary.org/obo/PR_Q99697
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:Q99697   
  PRO namepituitary homeobox 2 (human) 
  Synonyms
PRO-Short-label: EXACT:hPITX2
Gene-based: RELATED:ARP1 | PITX2 | RGS | RIEG | RIEG1
Other: EXACT:ALL1-responsive protein ARP1 (human) | homeobox protein PITX2 (human) | paired-like homeodomain transcription factor 2 (human) | RIEG bicoid-related homeobox transcription factor (human) | solurshin (human)
  Definition"A pituitary homeobox 2 that is encoded in the genome of human." [PRO:CNA, UniProtKB:Q99697] 
  PRO Categoryorganism-gene 
  ParentPR:000000117
PR:000029067
  Gene TemplateHGNC:9005 PITX2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 9                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q99697
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:Q99697 pituitary homeobox 2 (human), hPITX2

organism-sequence


PR:000000298 pituitary homeobox 2 sequence variant R89W (human), hPITX2/var:R89W
Yes
organism-sequence


PR:000000299 pituitary homeobox 2 sequence variant L100Q (human), hPITX2/var:L100Q
Yes
organism-sequence


PR:000000300 pituitary homeobox 2 sequence variant T114P (human), hPITX2/var:T114P
Yes
organism-sequence


PR:000000301 pituitary homeobox 2 sequence variant R115H (human), hPITX2/var:R115H
Yes
organism-sequence


PR:000000302 pituitary homeobox 2 sequence variant R137P (human), hPITX2/var:R137P
Yes
organism-sequence


PR:000036294 pituitary homeobox 2 isoform 4 (human), hPITX2/iso:4
Yes
organism-sequence


PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human), hPITX2/iso:Ptx2B
Yes
organism-sequence


PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human), hPITX2/iso:Ptx2C
Yes
organism-sequence


PR:Q99697-3 pituitary homeobox 2 isoform Ptx2A (human), hPITX2/iso:Ptx2A
Yes
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000298
hPITX2/var:R89W
UniProtKB:Q99697, Arg-89, CHEBI:29954 | UniProtKB:Q99697-1, Arg-89, CHEBI:29954 | pituitary homeobox 2 sequence variant 1 (human)		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9437321
PR:000000299
hPITX2/var:L100Q
UniProtKB:Q99697, Leu-100, CHEBI:30011 | UniProtKB:Q99697-1, Leu-100, CHEBI:30011 | pituitary homeobox 2 sequence variant 2 (human)		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000300
hPITX2/var:T114P
UniProtKB:Q99697, Thr-114, CHEBI:50342 | UniProtKB:Q99697-1, Thr-114, CHEBI:50342 | pituitary homeobox 2 sequence variant 3 (human)		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000301
hPITX2/var:R115H
UniProtKB:Q99697, Arg-115, CHEBI:29979 | UniProtKB:Q99697-1, Arg-115, CHEBI:29979 | pituitary homeobox 2 sequence variant 4 (human)		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9618168
PR:000000302
hPITX2/var:R137P
UniProtKB:Q99697, Arg-137, CHEBI:50342 | UniProtKB:Q99697-1, Arg-137, CHEBI:50342 | pituitary homeobox 2 sequence variant 5 (human)		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000036294
hPITX2/iso:4
 acts_upstream_of_or_withinGO:0043433 negative regulation of DNA-binding transcription factor activity PMID:11948188
enablesNOT GO:0003677 DNA binding PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
GO:0005515 protein binding PMID:11948188
PR:Q99697-1
hPITX2/iso:Ptx2B
pituitary homeobox 2 isoform ARP1B (human)		 acts_upstream_of_or_withinGO:0007368 determination of left/right symmetry PMID:9708732
GO:0009887 animal organ morphogenesis PMID:9618168
enablesGO:0005515 protein binding with PR:Q99697-2 PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
PR:Q99697-2
hPITX2/iso:Ptx2C
pituitary homeobox 2 isoform ARP1C (human)		 acts_upstream_of_or_withinGO:0007507 heart development PMID:11948188
enablesGO:0003677 DNA binding PMID:11948188
GO:0005515 protein binding with PR:Q99697-3 PMID:11948188
GO:0005515 protein binding PMID:11948188
PR:Q99697-3
hPITX2/iso:Ptx2A
pituitary homeobox 2 isoform ARP1A (human)		 enablesGO:0005515 protein binding with PR:Q99697-2 PMID:11948188
GO:0008134 transcription factor binding PMID:16449236
located_inGO:0005634 nucleus PMID:16449236