Protein Ontology Report - hPSEN2 PR:P49810 - http://purl.obolibrary.org/obo/PR_P49810

This page represents a class of proteins encompassing all the protein products of the PSEN2 gene in human .

Ontology Information
PRO ID	PR:P49810 Show OBO stanza / PAF
PRO name	presenilin-2 (human)
Synonyms	PRO-short-label: hPSEN2 EXACT: AD3LP (human); AD5 (human); E5-1 (human); PS-2 (human); STM-2 (human) Gene-based: AD4; PS2; PSEN2; PSNL2; STM2
Definition	A presenilin-2 that is encoded in the genome of human. [PRO:DNx, UniProtKB:P49810]
Comment	Requested by=Alzforum.
PRO Category	organism-gene
Parent	PR:000013345 presenilin-2
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Specific Category Number of Terms organism-gene 1 organism-sequence 50 organism-modification 0
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	HGNC:9509, UniProtKB:P49810

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All organism-gene organism-sequence
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View

PRO Term GO Annotation Evidence PR:000037748 hPSEN2/var:T122P Thr-122, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t122p PR:000037768 hPSEN2/var:T430M Thr-430, CHEBI:16044 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t430m PR:000037759 hPSEN2/var:S175C Ser-175, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-s175c PR:000037756 hPSEN2/var:V148I Val-148, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v148i PR:000037754 hPSEN2/var:N141Y Asn-141, CHEBI:46858 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-n141y PR:000037764 hPSEN2/var:M239I Met-239, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239i PR:000037753 hPSEN2/var:N141I Asn-141, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-n141i-volga-german PR:000037750 hPSEN2/var:E126K Glu-126, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-e126k PR:000037763 hPSEN2/var:M239V Met-239, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239v PR:000037761 hPSEN2/var:Q228L Gln-228, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-q228l PR:000037760 hPSEN2/var:V214L Val-214, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-v214l PR:000037747 hPSEN2/var:A85V Ala-85, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-a85v PR:000045479 hPSEN2/var:K161R Lys-161, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-k161r PR:000044561 hPSEN2/var:L238P Leu-238, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-l238p PR:000044560 hPSEN2/var:G212V Gly-212, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-g212v

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