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Protein Ontology report - pituitary homeobox 2 sequence variant T114P (human)
PR:000000300 -
http://purl.obolibrary.org/obo/PR_000000300
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000300
PRO name
pituitary homeobox 2 sequence variant T114P (human)
Synonyms
PRO-Short-label
:
EXACT:
hPITX2/var:T114P
PRO-proteoform-std
:
EXACT:
UniProtKB:Q99697
, Thr-114,
CHEBI:50342
NARROW:
UniProtKB:Q99697-1
, Thr-114,
CHEBI:50342
Other
:
EXACT:
pituitary homeobox 2 sequence variant 3 (human)
Definition
"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]
PRO Category
organism-sequence
Parent
PR:Q99697
pituitary homeobox 2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_003764
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
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)
"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]
associated_with_disease_progression
DO:14686
Axenfeld-Rieger syndrome
PMID:8944018