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Protein Ontology report - pituitary homeobox 2
PR:000000117 - http://purl.obolibrary.org/obo/PR_000000117
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000000117   
  PRO namepituitary homeobox 2 
  Synonyms
PRO-Short-label: EXACT:PITX2
Gene-based: RELATED:ARP1 | Brx1 | Otlx2 | Ptx2 | RGS | RIEG | RIEG1
Other: EXACT:ALL1-responsive protein ARP1 | BRX1 homeoprotein | homeobox protein PITX2 | orthodenticle-like homeobox 2 | paired-like homeodomain transcription factor 2 | paired-like homeodomain transcription factor Munc 30 | RIEG bicoid-related homeobox transcription factor | solurshin
  Definition"A ptx homeobox protein that is a translation product of the human PITX2 gene or a 1:1 ortholog thereof. The PITX2 gene contains 6 conserved exons." [PRO:CNA] 
  PRO Categorygene 
  ParentPR:000000022 ptx homeobox protein
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 5                                        
         Sequence4                                                  Organism-Sequence 21                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
gene


PR:000000117
pituitary homeobox 2
PITX2
"A ptx homeobox protein that is a translation product of the human PITX2 gene or a 1:1 ortholog thereof. The PITX2 gene contains 6 conserved exons." [PRO:CNA]

organism-gene


PR:O93385
pituitary homeobox 2 (chicken)
chick-PITX2
"A pituitary homeobox 2 that is encoded in the genome of chicken." [OMA:O93385, PRO:CNA]

organism-sequence


PR:O93385-1
pituitary homeobox 2 isoform Ptx2C (chicken)
chick-PITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of chicken." [PRO:DAN]

organism-sequence


PR:O93385-2
pituitary homeobox 2 isoform Ptx2A (chicken)
chick-PITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of chicken." [PRO:DNx, UniProtKB:O93385]

organism-gene


PR:P97474
pituitary homeobox 2 (mouse)
mPITX2
"A pituitary homeobox 2 that is encoded in the genome of mouse." [OMA:P97474, PRO:DNx]

organism-sequence


PR:000036295
pituitary homeobox 2 isoform 4 (mouse)
mPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of mouse." [PMID:11948188, PRO:DAN]

organism-sequence


PR:P97474-1
pituitary homeobox 2 isoform Ptx2B (mouse)
mPITX2/iso:Ptx2B
"A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:P97474-2
pituitary homeobox 2 isoform Ptx2C (mouse)
mPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:P97474-3
pituitary homeobox 2 isoform Ptx2A (mouse)
mPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:P97474-4
pituitary homeobox 2 isoform Ptx2Calpha (mouse)
mPITX2/iso:Ptx2Calpha
"A pituitary homeobox 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P97474-4." [PRO:DNx, UniProtKB:P97474]

organism-sequence


PR:P97474-5
pituitary homeobox 2 isoform Ptx2Cbeta (mouse)
mPITX2/iso:Ptx2Cbeta
"A pituitary homeobox 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P97474-5." [PRO:DNx, UniProtKB:P97474]

organism-gene


PR:Q99697
pituitary homeobox 2 (human)
hPITX2
"A pituitary homeobox 2 that is encoded in the genome of human." [PRO:CNA, UniProtKB:Q99697]

organism-sequence


PR:000000298
pituitary homeobox 2 sequence variant R89W (human)
hPITX2/var:R89W
"A pituitary homeobox 2 (human) that has a Trp residue at the position equivalent to Arg-89 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954." [PMID:9437321, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000299
pituitary homeobox 2 sequence variant L100Q (human)
hPITX2/var:L100Q
"A pituitary homeobox 2 (human) that has a Gln residue at the position equivalent to Leu-100 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000300
pituitary homeobox 2 sequence variant T114P (human)
hPITX2/var:T114P
"A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Thr-114 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000301
pituitary homeobox 2 sequence variant R115H (human)
hPITX2/var:R115H
"A pituitary homeobox 2 (human) that has a His residue at the position equivalent to Arg-115 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979." [PMID:9618168, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000302
pituitary homeobox 2 sequence variant R137P (human)
hPITX2/var:R137P
"A pituitary homeobox 2 (human) that has a Pro residue at the position equivalent to Arg-137 of the amino acid sequence represented by UniProtKB:Q99697-1. Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342." [PMID:8944018, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000036294
pituitary homeobox 2 isoform 4 (human)
hPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of human." [PMID:11948188, PRO:DAN]
Yes
organism-sequence


PR:Q99697-1
pituitary homeobox 2 isoform Ptx2B (human)
hPITX2/iso:Ptx2B
"A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q99697-2
pituitary homeobox 2 isoform Ptx2C (human)
hPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q99697-3
pituitary homeobox 2 isoform Ptx2A (human)
hPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-gene


PR:Q9R0W1
pituitary homeobox 2 (rat)
rPITX2
"A pituitary homeobox 2 that is encoded in the genome of rat." [OMA:Q9R0W1, PRO:DNx]

organism-sequence


PR:Q9R0W1-1
pituitary homeobox 2 isoform Ptx2C (rat)
rPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of rat." [PRO:DNx, UniProtKB:Q9R0W1]

organism-sequence


PR:Q9R0W1-2
pituitary homeobox 2 isoform Ptx2A (rat)
rPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of rat." [PRO:DNx, UniProtKB:Q9R0W1]

organism-gene


PR:Q9W5Z2
pituitary homeobox 2 (zebrafish)
z-PITX2
"A pituitary homeobox 2 that is encoded in the genome of zebrafish." [OMA:Q9W5Z2, PRO:DNx]

organism-sequence


PR:Q9W5Z2-1
pituitary homeobox 2 isoform c (zebrafish)
z-PITX2/iso:c
"A pituitary homeobox 2 (zebrafish) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9W5Z2-1." [PRO:DNx, UniProtKB:Q9W5Z2]

organism-sequence


PR:Q9W5Z2-2
pituitary homeobox 2 isoform a (zebrafish)
z-PITX2/iso:a
"A pituitary homeobox 2 (zebrafish) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9W5Z2-2." [PRO:DNx, UniProtKB:Q9W5Z2]

sequence


PR:000000294
pituitary homeobox 2 isoform Ptx2A
PITX2/iso:Ptx2A
"A pituitary homeobox 2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99697-3 or a 1:1 ortholog thereof." [PMID:10585561, PRO:CNA, PRO:DAN]

organism-sequence


PR:O93385-2
pituitary homeobox 2 isoform Ptx2A (chicken)
chick-PITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of chicken." [PRO:DNx, UniProtKB:O93385]

organism-sequence


PR:P97474-3
pituitary homeobox 2 isoform Ptx2A (mouse)
mPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:Q99697-3
pituitary homeobox 2 isoform Ptx2A (human)
hPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q9R0W1-2
pituitary homeobox 2 isoform Ptx2A (rat)
rPITX2/iso:Ptx2A
"A pituitary homeobox 2 isoform Ptx2A that is encoded in the genome of rat." [PRO:DNx, UniProtKB:Q9R0W1]

sequence


PR:000000295
pituitary homeobox 2 isoform Ptx2B
PITX2/iso:Ptx2B
"A pituitary homeobox 2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99697-1 or a 1:1 ortholog thereof." [PMID:10585561, PRO:CNA, PRO:DAN]

organism-sequence


PR:P97474-1
pituitary homeobox 2 isoform Ptx2B (mouse)
mPITX2/iso:Ptx2B
"A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:Q99697-1
pituitary homeobox 2 isoform Ptx2B (human)
hPITX2/iso:Ptx2B
"A pituitary homeobox 2 isoform Ptx2B that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
sequence


PR:000000296
pituitary homeobox 2 isoform Ptx2C
PITX2/iso:Ptx2C
"A pituitary homeobox 2 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99697-2 or a 1:1 ortholog thereof." [PMID:10585561, PRO:CNA, PRO:DAN]

organism-sequence


PR:O93385-1
pituitary homeobox 2 isoform Ptx2C (chicken)
chick-PITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of chicken." [PRO:DAN]

organism-sequence


PR:P97474-2
pituitary homeobox 2 isoform Ptx2C (mouse)
mPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P97474]
Yes
organism-sequence


PR:Q99697-2
pituitary homeobox 2 isoform Ptx2C (human)
hPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q99697]
Yes
organism-sequence


PR:Q9R0W1-1
pituitary homeobox 2 isoform Ptx2C (rat)
rPITX2/iso:Ptx2C
"A pituitary homeobox 2 isoform Ptx2C that is encoded in the genome of rat." [PRO:DNx, UniProtKB:Q9R0W1]

sequence


PR:000000297
pituitary homeobox 2 isoform 4
PITX2/iso:4
"A pituitary homeobox 2 that is a translation product of a transcript that uses an alternative promoter and that results from splicing of exon 4a to a cryptic 3'-splice site in exon 5, which produces a truncated homeodomain and complete C-terminal tail." [PMID:11948188, PRO:CNA, PRO:DAN]

organism-sequence


PR:000036294
pituitary homeobox 2 isoform 4 (human)
hPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of human." [PMID:11948188, PRO:DAN]
Yes
organism-sequence


PR:000036295
pituitary homeobox 2 isoform 4 (mouse)
mPITX2/iso:4
"A pituitary homeobox 2 isoform 4 that is encoded in the genome of mouse." [PMID:11948188, PRO:DAN]

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000298 hPITX2/var:R89W
Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9437321
PR:000000299 hPITX2/var:L100Q
Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000300 hPITX2/var:T114P
Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342		 associated_with_disease_progressionDO:14686 Axenfeld-Rieger syndrome PMID:8944018
PR:000000301 hPITX2/var:R115H
Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979		 associated_with_disease_progressionDO:0050786 iridogoniodysgenesis syndrome PMID:9618168
PR:000000302 hPITX2/var:R137P
Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342		 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:P97474-1 mPITX2/iso:Ptx2B acts_upstream_of_or_withinGO:0007368 determination of left/right symmetry PMID:12397115
GO:0016055 Wnt signaling pathway PMID:12464179
located_inGO:0005667 transcription factor complex PMID:12464179; PMID:15385555
PR:P97474-2 mPITX2/iso:Ptx2C acts_upstream_of_or_withinGO:0007179 transforming growth factor beta receptor signaling pathway PMID:10585561
GO:0007368 determination of left/right symmetry PMID:9708732
GO:0007520 myoblast fusion MGI_ref:3686567; PMID:16958127
GO:0009887 animal organ morphogenesis PMID:10585561
GO:2000288 positive regulation of myoblast proliferation MGI_ref:3686567; PMID:16958127
PR:P97474-3 mPITX2/iso:Ptx2A acts_upstream_of_or_withinGO:0007266 Rho protein signal transduction PMID:11854422
NOT GO:0007368 determination of left/right symmetry PMID:10585561
GO:0030036 actin cytoskeleton organization PMID:11854422
GO:0043388 positive regulation of DNA binding MGI_ref:3796777; PMID:18458156
enablesGO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific MGI_ref:3796777; PMID:18458156
GO:0003677 DNA binding MGI_ref:3796777; PMID:18458156
GO:0003712 transcription coregulator activity MGI_ref:3796777; PMID:18458156
GO:0005515 protein binding MGI_ref:3796777; PMID:18458156
GO:0008134 transcription factor binding PMID:15385555
located_inGO:0005634 nucleus PMID:11854422
GO:0005634 nucleus PMID:11854422
PR:Q99697-1 hPITX2/iso:Ptx2B 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 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 enablesGO:0005515 protein binding with PR:Q99697-2 PMID:11948188
GO:0008134 transcription factor binding PMID:16449236
located_inGO:0005634 nucleus PMID:16449236