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Protein Ontology report - pituitary homeobox 2 sequence variant R115H (human)
PR:000000301 -
http://purl.obolibrary.org/obo/PR_000000301
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000301
PRO name
pituitary homeobox 2 sequence variant R115H (human)
Synonyms
PRO-Short-label
:
EXACT:
hPITX2/var:R115H
PRO-proteoform-std
:
EXACT:
UniProtKB:Q99697
, Arg-115,
CHEBI:29979
NARROW:
UniProtKB:Q99697-1
, Arg-115,
CHEBI:29979
Other
:
EXACT:
pituitary homeobox 2 sequence variant 4 (human)
Definition
"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]
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_003765
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000301
hPITX2/var:R115H
UniProtKB:Q99697, Arg-115, CHEBI:29979 | UniProtKB:Q99697-1, Arg-115, CHEBI:29979 | pituitary homeobox 2 sequence variant 4 (human)
"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]
associated_with_disease_progression
DO:0050786
iridogoniodysgenesis syndrome
PMID:9618168