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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 pituitary homeobox 2
PR:000029067 Homo sapiens protein
  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

Short 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 (GO-centric view) Switch to PRO Centric View     

Biological Process GO Term

Protein Forms & Complexes

Evidence
GO:0007368 determination of left/right symmetryPR:Q99697-1 hPITX2/iso:Ptx2B PMID:9708732
GO:0007507 heart developmentPR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
GO:0009887 animal organ morphogenesisPR:Q99697-1 hPITX2/iso:Ptx2B PMID:9618168
GO:0043433 negative regulation of DNA-binding transcription factor activityPR:000036294 hPITX2/iso:4 PMID:11948188

Disease Associated GO Term

Protein Forms & Complexes

Evidence
DO:0050786 iridogoniodysgenesis syndromePR:000000298 hPITX2/var:R89W PMID:9437321
PR:000000301 hPITX2/var:R115H PMID:9618168
DO:14686 Axenfeld-Rieger syndromePR:000000299 hPITX2/var:L100Q PMID:8944018
PR:000000300 hPITX2/var:T114P PMID:8944018
PR:000000302 hPITX2/var:R137P PMID:8944018

Molecular Function GO Term

Protein Forms & Complexes

Evidence
GO:0003677 DNA bindingPR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
NOT GO:0003677 DNA bindingPR:000036294 hPITX2/iso:4 PMID:11948188
GO:0005515 protein bindingPR:000036294 hPITX2/iso:4 PMID:11948188
PR:000036294 hPITX2/iso:4 PMID:11948188
PR:Q99697-1 hPITX2/iso:Ptx2B PMID:11948188
PR:Q99697-1 hPITX2/iso:Ptx2B PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C PMID:11948188
PR:Q99697-3 hPITX2/iso:Ptx2A PMID:11948188
GO:0008134 transcription factor bindingPR:Q99697-3 hPITX2/iso:Ptx2A PMID:16449236

Cellular Location GO Term

Protein Forms & Complexes

Evidence
GO:0005634 nucleusPR:Q99697-3 hPITX2/iso:Ptx2A PMID:16449236