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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 name
pituitary 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 Category
organism-gene
Parent
PR:000000117
pituitary homeobox 2
PR:000029067
Homo sapiens protein
Gene Template
HGNC:9005
PITX2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Gene
0
Organism-Gene
1
Sequence
0
Organism-Sequence
9
Modification
0
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 symmetry
PR:Q99697-1
hPITX2/iso:Ptx2B
PMID:9708732
GO:0007507
heart development
PR:Q99697-2
hPITX2/iso:Ptx2C
PMID:11948188
GO:0009887
animal organ morphogenesis
PR:Q99697-1
hPITX2/iso:Ptx2B
PMID:9618168
GO:0043433
negative regulation of DNA-binding transcription factor activity
PR:000036294
hPITX2/iso:4
PMID:11948188
Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:0050786
iridogoniodysgenesis syndrome
PR:000000298
hPITX2/var:R89W
PMID:9437321
PR:000000301
hPITX2/var:R115H
PMID:9618168
DO:14686
Axenfeld-Rieger syndrome
PR: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 binding
PR:Q99697-2
hPITX2/iso:Ptx2C
PMID:11948188
NOT
GO:0003677
DNA binding
PR:000036294
hPITX2/iso:4
PMID:11948188
GO:0005515
protein binding
PR: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 binding
PR:Q99697-3
hPITX2/iso:Ptx2A
PMID:16449236
Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005634
nucleus
PR:Q99697-3
hPITX2/iso:Ptx2A
PMID:16449236