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Protein Ontology report - presenilin-2
PR:000013345 - http://purl.obolibrary.org/obo/PR_000013345
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza
  PRO ID
PR:000013345   
  PRO namepresenilin-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] 
  CommentRequested by=Alzforum. 
  PRO Categorygene 
  ParentPR:000000001 protein
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 6                                        
         Sequence3                                                  Organism-Sequence 56                                        
         Modification4                                                  Organism-Modification 3                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
IUPHARobj:2403
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

Comp. In Complex?
gene


PR:000013345 presenilin-2
PSEN2

organism-gene


PR:O02194 presenilin homolog (fruit fly)
fly-PSEN2

organism-sequence


PR:O02194-1 presenilin homolog isoform 1 (fruit fly)
fly-PSEN2/iso:1

organism-sequence


PR:O02194-2 presenilin homolog isoform 2 (fruit fly)
fly-PSEN2/iso:2

organism-sequence


PR:O02194-3 presenilin homolog isoform 3 (fruit fly)
fly-PSEN2/iso:3

organism-gene


PR:O88777 presenilin-2 (rat)
rPSEN2

organism-gene


PR:P49810 presenilin-2 (human)
hPSEN2

organism-sequence


PR:000036286 presenilin-2 sequence variant (human)
hPSEN2/var+

organism-sequence


PR:000037741 presenilin-2 sequence variant R29H (human)
hPSEN2/var:R29H

organism-sequence


PR:000037742 presenilin-2 sequence variant G34S (human)
hPSEN2/var:G34S

organism-sequence


PR:000037743 presenilin-2 sequence variant R62H (human)
hPSEN2/var:R62H

organism-sequence


PR:000037744 presenilin-2 sequence variant R62C (human)
hPSEN2/var:R62C

organism-sequence


PR:000037745 presenilin-2 sequence variant P69A (human)
hPSEN2/var:P69A

organism-sequence


PR:000037746 presenilin-2 sequence variant R71W (human)
hPSEN2/var:R71W

organism-sequence


PR:000037747 presenilin-2 sequence variant A85V (human)
hPSEN2/var:A85V
Yes
organism-sequence


PR:000037748 presenilin-2 sequence variant T122P (human)
hPSEN2/var:T122P
Yes
organism-sequence


PR:000037749 presenilin-2 sequence variant T122R (human)
hPSEN2/var:T122R

organism-sequence


PR:000037750 presenilin-2 sequence variant E126K (human)
hPSEN2/var:E126K
Yes
organism-sequence


PR:000037751 presenilin-2 sequence variant S130L (human)
hPSEN2/var:S130L

organism-sequence


PR:000037752 presenilin-2 sequence variant V139M (human)
hPSEN2/var:V139M

organism-sequence


PR:000037753 presenilin-2 sequence variant N141I (human)
hPSEN2/var:N141I
Yes
organism-sequence


PR:000037754 presenilin-2 sequence variant N141Y (human)
hPSEN2/var:N141Y
Yes
organism-sequence


PR:000037755 presenilin-2 sequence variant L143H (human)
hPSEN2/var:L143H

organism-sequence


PR:000037756 presenilin-2 sequence variant V148I (human)
hPSEN2/var:V148I
Yes
organism-sequence


PR:000037757 presenilin-2 sequence variant R163H (human)
hPSEN2/var:R163H

organism-sequence


PR:000037758 presenilin-2 sequence variant M174V (human)
hPSEN2/var:M174V

organism-sequence


PR:000037759 presenilin-2 sequence variant S175C (human)
hPSEN2/var:S175C
Yes
organism-sequence


PR:000037760 presenilin-2 sequence variant V214L (human)
hPSEN2/var:V214L
Yes
organism-sequence


PR:000037761 presenilin-2 sequence variant Q228L (human)
hPSEN2/var:Q228L
Yes
organism-sequence


PR:000037762 presenilin-2 sequence variant Y231C (human)
hPSEN2/var:Y231C

organism-sequence


PR:000037763 presenilin-2 sequence variant M239V (human)
hPSEN2/var:M239V
Yes
organism-sequence


PR:000037764 presenilin-2 sequence variant M239I (human)
hPSEN2/var:M239I
Yes
organism-sequence


PR:000037765 presenilin-2 sequence variant A252T (human)
hPSEN2/var:A252T

organism-sequence


PR:000037766 presenilin-2 sequence variant P334R (human)
hPSEN2/var:P334R

organism-sequence


PR:000037767 presenilin-2 sequence variant V393M (human)
hPSEN2/var:V393M

organism-sequence


PR:000037768 presenilin-2 sequence variant T430M (human)
hPSEN2/var:T430M
Yes
organism-sequence


PR:000037769 presenilin-2 sequence variant D439A (human)
hPSEN2/var:D439A

organism-sequence


PR:000044560 presenilin-2 sequence variant G212V (human)
hPSEN2/var:G212V
Yes
organism-sequence


PR:000044561 presenilin-2 sequence variant L238P (human)
hPSEN2/var:L238P
Yes
organism-sequence


PR:000044562 presenilin-2 sequence variant P348L (human)
hPSEN2/var:P348L

organism-sequence


PR:000044563 presenilin-2 sequence variant T18M (human)
hPSEN2/var:T18M

organism-sequence


PR:000045476 presenilin-2 sequence variant K82R (human)
hPSEN2/var:K82R

organism-sequence


PR:000045477 presenilin-2 sequence variant V101M (human)
hPSEN2/var:V101M

organism-sequence


PR:000045478 presenilin-2 sequence variant P123L (human)
hPSEN2/var:P123L

organism-sequence


PR:000045479 presenilin-2 sequence variant K161R (human)
hPSEN2/var:K161R
Yes
organism-sequence


PR:000045480 presenilin-2 sequence variant H169N (human)
hPSEN2/var:H169N

organism-sequence


PR:000045481 presenilin-2 sequence variant I235F (human)
hPSEN2/var:I235F

organism-sequence


PR:000045482 presenilin-2 sequence variant A237V (human)
hPSEN2/var:A237V

organism-sequence


PR:000045483 presenilin-2 sequence variant L238F (human)
hPSEN2/var:L238F

organism-sequence


PR:000045484 presenilin-2 sequence variant A258T (human)
hPSEN2/var:A258T

organism-sequence


PR:000045485 presenilin-2 sequence variant T301M (human)
hPSEN2/var:T301M

organism-sequence


PR:000045486 presenilin-2 sequence variant P334A (human)
hPSEN2/var:P334A

organism-sequence


PR:000045487 presenilin-2 sequence variant A377V (human)
hPSEN2/var:A377V

organism-sequence


PR:000036856 presenilin-2 isoform PS2beta (human)
hPSEN2/iso:PS2beta

organism-sequence


PR:P49810-1 presenilin-2 isoform 1 (human)
hPSEN2/iso:1

organism-sequence


PR:P49810-2 presenilin-2 isoform h2 (human)
hPSEN2/iso:h2

organism-sequence


PR:P49810-3 presenilin-2 isoform h3 (human)
hPSEN2/iso:h3

organism-gene


PR:P52166 presenilin sel-12 (worm)
PSEN2 (worm)

organism-gene


PR:Q61144 presenilin-2 (mouse)
mPSEN2

organism-sequence


PR:000036858 presenilin-2 isoform PS2short (mouse)
mPSEN2/iso:PS2short
Yes
union


PR:000036891 PS2s (mouse)
mPS2s

organism-sequence


PR:000036858 presenilin-2 isoform PS2short (mouse)
mPSEN2/iso:PS2short

organism-modification


PR:000036890 presenilin-2 isoform 1 CTF subunit (mouse)
mPSEN2/iso:1/Clv:CTF

organism-sequence


PR:Q61144-1 presenilin-2 isoform 1 (mouse)
mPSEN2/iso:1

organism-modification


PR:000036886 presenilin-2 isoform 1 C-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Cter

organism-modification


PR:000036888 presenilin-2 isoform 1 N-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Nter

organism-modification


PR:000036890 presenilin-2 isoform 1 CTF subunit (mouse)
mPSEN2/iso:1/Clv:CTF

organism-sequence


PR:Q61144-2 presenilin-2 isoform PS2beta (mouse)
mPSEN2/iso:PS2beta
Yes
organism-gene


PR:Q90ZE4 presenilin-2 (zebrafish)
z-PSEN2

sequence


PR:000036851 presenilin-2 isoform 1
PSEN2/iso:1

organism-sequence


PR:P49810-1 presenilin-2 isoform 1 (human)
hPSEN2/iso:1

organism-sequence


PR:Q61144-1 presenilin-2 isoform 1 (mouse)
mPSEN2/iso:1

organism-modification


PR:000036886 presenilin-2 isoform 1 C-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Cter

organism-modification


PR:000036888 presenilin-2 isoform 1 N-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Nter

organism-modification


PR:000036890 presenilin-2 isoform 1 CTF subunit (mouse)
mPSEN2/iso:1/Clv:CTF

modification


PR:000036881 presenilin-2 isoform 1 C-terminal fragment
PSEN2/iso:1/Clv:Cter

organism-modification


PR:000036886 presenilin-2 isoform 1 C-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Cter

modification


PR:000036887 presenilin-2 isoform 1 N-terminal fragment
PSEN2/iso:1/Clv:Nter

organism-modification


PR:000036888 presenilin-2 isoform 1 N-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Nter

modification


PR:000036889 presenilin-2 isoform 1 CTF subunit
PSEN2/iso:1/Clv:CTF

organism-modification


PR:000036890 presenilin-2 isoform 1 CTF subunit (mouse)
mPSEN2/iso:1/Clv:CTF

sequence


PR:000036853 presenilin-2 isoform PS2beta
PSEN2/iso:PS2beta

organism-sequence


PR:000036856 presenilin-2 isoform PS2beta (human)
hPSEN2/iso:PS2beta

organism-sequence


PR:Q61144-2 presenilin-2 isoform PS2beta (mouse)
mPSEN2/iso:PS2beta
Yes
sequence


PR:000036857 presenilin-2 isoform PS2short
PSEN2/iso:PS2short

organism-sequence


PR:000036858 presenilin-2 isoform PS2short (mouse)
mPSEN2/iso:PS2short
Yes
modification


PR:000036880 presenilin-2 proteolytic cleavage product
PSEN2/ClvPrd

modification


PR:000036881 presenilin-2 isoform 1 C-terminal fragment
PSEN2/iso:1/Clv:Cter

organism-modification


PR:000036886 presenilin-2 isoform 1 C-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Cter

modification


PR:000036887 presenilin-2 isoform 1 N-terminal fragment
PSEN2/iso:1/Clv:Nter

organism-modification


PR:000036888 presenilin-2 isoform 1 N-terminal fragment (mouse)
mPSEN2/iso:1/Clv:Nter

modification


PR:000036889 presenilin-2 isoform 1 CTF subunit
PSEN2/iso:1/Clv:CTF

organism-modification


PR:000036890 presenilin-2 isoform 1 CTF subunit (mouse)
mPSEN2/iso:1/Clv:CTF

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000036858 mPSEN2/iso:PS2short
UniProtKB:Q61144-1, 298-448		 acts_upstream_of_or_withinGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors MGI_ref:1099227; PMID:9353287
PR:000037747 hPSEN2/var:A85V
Example: UniProtKB:P49810-1, Ala-85, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-a85v
PR:000037748 hPSEN2/var:T122P
Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-t122p
PR:000037750 hPSEN2/var:E126K
Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-e126k
PR:000037753 hPSEN2/var:N141I
Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-n141i-volga-german
PR:000037754 hPSEN2/var:N141Y
Example: UniProtKB:P49810-1, Asn-141, CHEBI:46858		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-n141y
PR:000037756 hPSEN2/var:V148I
Example: UniProtKB:P49810-1, Val-148, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-v148i
PR:000037759 hPSEN2/var:S175C
Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-s175c
PR:000037760 hPSEN2/var:V214L
Example: UniProtKB:P49810-1, Val-214, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-v214l
PR:000037761 hPSEN2/var:Q228L
Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-q228l
PR:000037763 hPSEN2/var:M239V
Example: UniProtKB:P49810-1, Met-239, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-m239v
PR:000037764 hPSEN2/var:M239I
Example: UniProtKB:P49810-1, Met-239, CHEBI:30009		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-m239i
PR:000037768 hPSEN2/var:T430M
Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-t430m
PR:000044560 hPSEN2/var:G212V
Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-g212v
PR:000044561 hPSEN2/var:L238P
Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-l238p
PR:000045479 hPSEN2/var:K161R
Example: UniProtKB:P49810-1, Lys-161, CHEBI:29952		 associated_with_disease_progressionDO:10652 Alzheimer's disease Alzforum:psen2-k161r
PR:Q61144-2 mPSEN2/iso:PS2beta
The sequence is shorter (361 residues long) than isoform 1 sharing the same sequence up to residue 357, followed by the sequence SKGA		 acts_upstream_of_or_withinGO:0031333 negative regulation of protein-containing complex assembly MGI_ref:3843380; PMID:19376115
GO:0032091 negative regulation of protein binding MGI_ref:3843380; PMID:19376115
located_inGO:0005783 endoplasmic reticulum MGI_ref:3843380; PMID:19376115