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Protein Ontology Report - PSEN2

PR:000013345 - http://purl.obolibrary.org/obo/PR_000013345
Ontology Information
PRO ID PR:000013345 Show OBO stanza / PAF
PRO name presenilin-2
Synonyms
PRO-short-label: EXACT: PSEN2
Gene-based: RELATED: AD4 | Ad4h | Alg3 | PS2 | PSNL2 | STM2
Other: EXACT: AD3LP | AD5 | E5-1 | PS-2 | STM-2
Definition A protein that is a translation product of the human PSEN2 gene or a 1:1 ortholog thereof. [PRO:DNx]
Comment Requested by=Alzforum.
PRO Category gene
Parent PR:000000001 protein
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 6
sequence 3 organism-sequence 56
modification 4 organism-modification 3
union 1
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:000037748
hPSEN2/var:T122P
Thr-122, CHEBI:50342 		associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t122p
PR:000036858
mPSEN2/iso:PS2short
acts_upstream_of_or_within GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors MGI:1099227, PMID:9353287
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: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:000037764
hPSEN2/var:M239I
Met-239, CHEBI:30009 		associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-m239i
PR:Q61144-2
mPSEN2/iso:PS2beta
acts_upstream_of_or_within GO:0031333 negative regulation of protein-containing complex assembly MGI:3843380, PMID:19376115
acts_upstream_of_or_within GO:0032091 negative regulation of protein binding MGI:3843380, PMID:19376115
located_in GO:0005783 endoplasmic reticulum MGI:3843380, PMID:19376115
PR:000037768
hPSEN2/var:T430M
Thr-430, CHEBI:16044 		associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-t430m
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
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005783 endoplasmic reticulum PR:Q61144-2 mPSEN2/iso:PS2beta

MGI:3843380, PMID:19376115

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