back to PRO homepage

Protein Ontology Report - hPITX2/var:R115H

PR:000000301 - http://purl.obolibrary.org/obo/PR_000000301
Ontology Information
PRO ID PR:000000301 Show OBO stanza / PAF
PRO name pituitary homeobox 2 sequence variant R115H (human)
Synonyms
PRO-short-label: hPITX2/var:R115H
EXACT: pituitary homeobox 2 sequence variant 4 (human)
PRO-proteoform-std: UniProtKB:Q99697-1, Arg-115, CHEBI:29979
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)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000301
hPITX2/var:R115H
Arg-115, CHEBI:29979
associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9618168

top