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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)
RELATED: AD4; PS2; 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


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: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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