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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 name

pituitary 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 Category

gene

Parent

PR:000000022 ptx homeobox protein

Terms by PRO Category

Organism-Independent		Organism-Specific
Category	Number of Terms	Category	Number of Terms
Gene	1	Organism-Gene	5
Sequence	4	Organism-Sequence	21
Modification	0	Organism-Modification	0

Term Hierarchy
Visualization

DAG:

OLS:

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Protein Forms

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Category

PRO Form Name

Short Name

Ann. Has Annotation?

Comp. In Complex?

gene

PR:000000117 pituitary homeobox 2

PITX2

organism-gene

PR:O93385 pituitary homeobox 2 (chicken)

chick-PITX2

organism-sequence

PR:O93385-1 pituitary homeobox 2 isoform Ptx2C (chicken)

chick-PITX2/iso:Ptx2C

organism-sequence

PR:O93385-2 pituitary homeobox 2 isoform Ptx2A (chicken)

chick-PITX2/iso:Ptx2A

organism-gene

PR:P97474 pituitary homeobox 2 (mouse)

mPITX2

organism-sequence

PR:000036295 pituitary homeobox 2 isoform 4 (mouse)

mPITX2/iso:4

organism-sequence

PR:P97474-1 pituitary homeobox 2 isoform Ptx2B (mouse)

mPITX2/iso:Ptx2B

Yes

organism-sequence

PR:P97474-2 pituitary homeobox 2 isoform Ptx2C (mouse)

mPITX2/iso:Ptx2C

Yes

organism-sequence

PR:P97474-3 pituitary homeobox 2 isoform Ptx2A (mouse)

mPITX2/iso:Ptx2A

Yes

organism-sequence

PR:P97474-4 pituitary homeobox 2 isoform Ptx2Calpha (mouse)

mPITX2/iso:Ptx2Calpha

organism-sequence

PR:P97474-5 pituitary homeobox 2 isoform Ptx2Cbeta (mouse)

mPITX2/iso:Ptx2Cbeta

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

organism-gene

PR:Q9R0W1 pituitary homeobox 2 (rat)

rPITX2

organism-sequence

PR:Q9R0W1-1 pituitary homeobox 2 isoform Ptx2C (rat)

rPITX2/iso:Ptx2C

organism-sequence

PR:Q9R0W1-2 pituitary homeobox 2 isoform Ptx2A (rat)

rPITX2/iso:Ptx2A

organism-gene

PR:Q9W5Z2 pituitary homeobox 2 (zebrafish)

z-PITX2

organism-sequence

PR:Q9W5Z2-1 pituitary homeobox 2 isoform c (zebrafish)

z-PITX2/iso:c

organism-sequence

PR:Q9W5Z2-2 pituitary homeobox 2 isoform a (zebrafish)

z-PITX2/iso:a

sequence

PR:000000294 pituitary homeobox 2 isoform Ptx2A

PITX2/iso:Ptx2A

organism-sequence

PR:O93385-2 pituitary homeobox 2 isoform Ptx2A (chicken)

chick-PITX2/iso:Ptx2A

organism-sequence

PR:P97474-3 pituitary homeobox 2 isoform Ptx2A (mouse)

mPITX2/iso:Ptx2A

Yes

organism-sequence

PR:Q99697-3 pituitary homeobox 2 isoform Ptx2A (human)

hPITX2/iso:Ptx2A

Yes

organism-sequence

PR:Q9R0W1-2 pituitary homeobox 2 isoform Ptx2A (rat)

rPITX2/iso:Ptx2A

sequence

PR:000000295 pituitary homeobox 2 isoform Ptx2B

PITX2/iso:Ptx2B

organism-sequence

PR:P97474-1 pituitary homeobox 2 isoform Ptx2B (mouse)

mPITX2/iso:Ptx2B

Yes

organism-sequence

PR:Q99697-1 pituitary homeobox 2 isoform Ptx2B (human)

hPITX2/iso:Ptx2B

Yes

sequence

PR:000000296 pituitary homeobox 2 isoform Ptx2C

PITX2/iso:Ptx2C

organism-sequence

PR:O93385-1 pituitary homeobox 2 isoform Ptx2C (chicken)

chick-PITX2/iso:Ptx2C

organism-sequence

PR:P97474-2 pituitary homeobox 2 isoform Ptx2C (mouse)

mPITX2/iso:Ptx2C

Yes

organism-sequence

PR:Q99697-2 pituitary homeobox 2 isoform Ptx2C (human)

hPITX2/iso:Ptx2C

Yes

organism-sequence

PR:Q9R0W1-1 pituitary homeobox 2 isoform Ptx2C (rat)

rPITX2/iso:Ptx2C

sequence

PR:000000297 pituitary homeobox 2 isoform 4

PITX2/iso:4

organism-sequence

PR:000036294 pituitary homeobox 2 isoform 4 (human)

hPITX2/iso:4

Yes

organism-sequence

PR:000036295 pituitary homeobox 2 isoform 4 (mouse)

mPITX2/iso:4

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Functional Annotation (PRO-centric view)

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PRO Term	GO Annotation		Evidence
PR:000000298 hPITX2/var:R89W Example: UniProtKB:Q99697-1, Arg-89, CHEBI:29954	associated_with_disease_progression	DO:0050786 iridogoniodysgenesis syndrome	PMID:9437321
PR:000000299 hPITX2/var:L100Q Example: UniProtKB:Q99697-1, Leu-100, CHEBI:30011	associated_with_disease_progression	DO:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000000300 hPITX2/var:T114P Example: UniProtKB:Q99697-1, Thr-114, CHEBI:50342	associated_with_disease_progression	DO:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000000301 hPITX2/var:R115H Example: UniProtKB:Q99697-1, Arg-115, CHEBI:29979	associated_with_disease_progression	DO:0050786 iridogoniodysgenesis syndrome	PMID:9618168
PR:000000302 hPITX2/var:R137P Example: UniProtKB:Q99697-1, Arg-137, CHEBI:50342	associated_with_disease_progression	DO:14686 Axenfeld-Rieger syndrome	PMID:8944018
PR:000036294 hPITX2/iso:4	acts_upstream_of_or_within	GO:0043433 negative regulation of DNA-binding transcription factor activity	PMID:11948188
	enables	NOT 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_within	GO:0007368 determination of left/right symmetry	PMID:12397115
	acts_upstream_of_or_within	GO:0016055 Wnt signaling pathway	PMID:12464179
	located_in	GO:0005667 transcription factor complex	PMID:12464179; PMID:15385555
PR:P97474-2 mPITX2/iso:Ptx2C	acts_upstream_of_or_within	GO: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_within	GO: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
	enables	GO: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_in	GO:0005634 nucleus	PMID:11854422
	located_in	GO:0005634 nucleus	PMID:11854422
PR:Q99697-1 hPITX2/iso:Ptx2B	acts_upstream_of_or_within	GO:0007368 determination of left/right symmetry	PMID:9708732
	acts_upstream_of_or_within	GO:0009887 animal organ morphogenesis	PMID:9618168
	enables	GO:0005515 protein binding with PR:Q99697-2	PMID:11948188
	enables	GO:0005515 protein binding with PR:Q99697-3	PMID:11948188
PR:Q99697-2 hPITX2/iso:Ptx2C	acts_upstream_of_or_within	GO:0007507 heart development	PMID:11948188
	enables	GO: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	enables	GO:0005515 protein binding with PR:Q99697-2	PMID:11948188
	enables	GO:0008134 transcription factor binding	PMID:16449236
	located_in	GO:0005634 nucleus	PMID:16449236