PSEN2 (presenilin 2) - Rat Genome Database

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Gene: PSEN2 (presenilin 2) Pan paniscus
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Symbol: PSEN2
Name: presenilin 2
RGD ID: 11717774
Description: ENCODES a protein that exhibits endopeptidase activity (ortholog); INVOLVED IN amyloid-beta metabolic process (ortholog); apoptotic signaling pathway (ortholog); brain morphogenesis (ortholog); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: presenilin 2 (Alzheimer disease 4); presenilin-2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2122,644,288 - 22,669,733 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1122,592,732 - 22,618,185 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01202,328,987 - 202,354,440 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11207,320,937 - 207,346,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1207,320,937 - 207,346,295 (+)Ensemblpanpan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid precursor protein catabolic process  (IEA)
amyloid-beta formation  (IEA)
amyloid-beta metabolic process  (ISO)
apoptotic signaling pathway  (ISO)
brain morphogenesis  (ISO)
calcium ion homeostasis  (IEA)
calcium ion transport  (ISO)
cardiac muscle contraction  (ISO)
cell fate specification  (ISO)
dorsal/ventral neural tube patterning  (ISO)
embryonic limb morphogenesis  (ISO)
endoplasmic reticulum calcium ion homeostasis  (ISO)
forebrain development  (ISO)
hair follicle development  (ISO)
hematopoietic progenitor cell differentiation  (ISO)
intracellular signal transduction  (IEA)
learning or memory  (ISO)
locomotion  (ISO)
lung alveolus development  (ISO)
membrane protein ectodomain proteolysis  (IEA)
memory  (ISO)
mitochondrion-endoplasmic reticulum membrane tethering  (IEA)
myeloid leukocyte differentiation  (ISO)
negative regulation of apoptotic signaling pathway  (ISO)
negative regulation of epidermal growth factor-activated receptor activity  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
negative regulation of ubiquitin-dependent protein catabolic process  (ISO)
negative regulation of ubiquitin-protein transferase activity  (ISO)
neuroinflammatory response  (ISO)
neuron cellular homeostasis  (ISO)
Notch signaling pathway  (IEA,ISO)
positive regulation of apoptotic process  (ISO)
positive regulation of coagulation  (ISO)
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (ISO)
positive regulation of receptor recycling  (ISO)
protein catabolic process at postsynapse  (ISO)
protein maturation  (ISO)
protein processing  (IEA,ISO)
protein transport  (ISO)
proteolysis  (IEA)
regulation of calcium import into the mitochondrion  (IEA)
regulation of epidermal growth factor-activated receptor activity  (ISO)
regulation of postsynapse organization  (ISO)
regulation of synaptic plasticity  (ISO)
response to hypoxia  (ISO)
skin morphogenesis  (ISO)
somitogenesis  (ISO)
T cell activation involved in immune response  (ISO)
T cell receptor signaling pathway  (ISO)
thymus development  (ISO)

Molecular Function

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
PSEN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2122,644,288 - 22,669,733 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1122,592,732 - 22,618,185 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01202,328,987 - 202,354,440 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11207,320,937 - 207,346,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1207,320,937 - 207,346,295 (+)Ensemblpanpan1.1panPan2
PSEN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381226,870,616 - 226,903,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1226,870,184 - 226,927,726 (+)EnsemblGRCh38hg38GRCh38
GRCh371227,058,317 - 227,083,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361225,124,896 - 225,150,427 (+)NCBINCBI36Build 36hg18NCBI36
Build 341223,365,694 - 223,390,532NCBI
Celera1200,249,068 - 200,274,610 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1197,575,178 - 197,600,711 (+)NCBIHuRef
CHM1_11228,331,030 - 228,356,564 (+)NCBICHM1_1
T2T-CHM13v2.01226,058,503 - 226,091,743 (+)NCBIT2T-CHM13v2.0
Psen2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,054,569 - 180,091,030 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,054,569 - 180,091,003 (-)EnsemblGRCm39 Ensembl
GRCm381180,227,004 - 180,263,467 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,227,004 - 180,263,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371182,157,135 - 182,186,431 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361182,063,681 - 182,082,576 (-)NCBIMGSCv36mm8
Celera1187,291,668 - 187,320,266 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.19NCBI
Psen2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81394,499,451 - 94,528,419 (-)NCBIGRCr8
mRatBN7.21391,967,506 - 91,993,240 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1391,967,983 - 91,993,174 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1394,473,112 - 94,489,800 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01395,873,282 - 95,889,973 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01393,047,983 - 93,064,680 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01398,513,600 - 98,539,347 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1398,513,570 - 98,530,724 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013103,521,460 - 103,547,174 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41395,934,674 - 95,951,836 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11396,123,177 - 96,145,989 (-)NCBI
Celera1391,515,731 - 91,532,398 (-)NCBICelera
Cytogenetic Map13q26NCBI
Psen2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554065,727,367 - 5,752,234 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554065,727,367 - 5,748,798 (+)NCBIChiLan1.0ChiLan1.0
PSEN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1738,147,157 - 38,163,023 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl738,147,173 - 38,166,722 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha737,629,753 - 37,654,335 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0737,981,322 - 38,006,377 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl737,980,700 - 38,006,369 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1737,820,678 - 37,845,261 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0737,827,826 - 37,852,402 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0738,098,241 - 38,122,853 (-)NCBIUU_Cfam_GSD_1.0
Psen2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934451,135,578 - 51,163,137 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365263,584,188 - 3,614,074 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365263,584,194 - 3,611,719 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1014,532,767 - 14,577,251 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11014,532,556 - 14,561,862 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21016,862,708 - 16,891,775 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap10p16-p11NCBI
PSEN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1252,862,354 - 2,888,735 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl252,862,251 - 2,877,386 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psen2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477117,183,447 - 17,224,188 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477117,183,538 - 17,205,460 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSPPAT00000035222   ⟹   ENSPPAP00000012556
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1207,320,937 - 207,346,295 (+)Ensembl
Ensembl Acc Id: ENSPPAT00000035230   ⟹   ENSPPAP00000012564
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl1207,330,870 - 207,345,751 (+)Ensembl
RefSeq Acc Id: XM_003814930   ⟹   XP_003814978
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2122,644,288 - 22,669,575 (-)NCBI
NHGRI_mPanPan1122,592,732 - 22,618,021 (-)NCBI
Mhudiblu_PPA_v01202,329,148 - 202,354,440 (+)NCBI
PanPan1.11207,320,937 - 207,346,295 (+)NCBI
Sequence:
RefSeq Acc Id: XM_034947940   ⟹   XP_034803831
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2122,644,288 - 22,669,728 (-)NCBI
NHGRI_mPanPan1122,592,732 - 22,618,180 (-)NCBI
Mhudiblu_PPA_v01202,328,992 - 202,354,440 (+)NCBI
RefSeq Acc Id: XM_034947953   ⟹   XP_034803844
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2122,644,288 - 22,669,733 (-)NCBI
NHGRI_mPanPan1122,592,732 - 22,618,185 (-)NCBI
Mhudiblu_PPA_v01202,328,987 - 202,354,440 (+)NCBI
RefSeq Acc Id: XM_034947957   ⟹   XP_034803848
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2122,644,288 - 22,669,728 (-)NCBI
NHGRI_mPanPan1122,592,732 - 22,618,180 (-)NCBI
Mhudiblu_PPA_v01202,328,992 - 202,354,440 (+)NCBI
RefSeq Acc Id: XM_055107377   ⟹   XP_054963352
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v2122,644,288 - 22,669,733 (-)NCBI
NHGRI_mPanPan1122,592,732 - 22,618,185 (-)NCBI
RefSeq Acc Id: XP_003814978   ⟸   XM_003814930
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AA90 (UniProtKB/TrEMBL),   A0A2R9A5I7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_034803844   ⟸   XM_034947953
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AA90 (UniProtKB/TrEMBL),   A0A2R9A5I7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_034803831   ⟸   XM_034947940
- Peptide Label: isoform X1
- UniProtKB: A0A2R9AA90 (UniProtKB/TrEMBL),   A0A2R9A5I7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_034803848   ⟸   XM_034947957
- Peptide Label: isoform X2
- UniProtKB: A0A2R9A5I7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSPPAP00000012564   ⟸   ENSPPAT00000035230
Ensembl Acc Id: ENSPPAP00000012556   ⟸   ENSPPAT00000035222
RefSeq Acc Id: XP_054963352   ⟸   XM_055107377
- Peptide Label: isoform X2


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000029453 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000035222.1 UniProtKB/TrEMBL
  ENSPPAT00000035230.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.100 UniProtKB/TrEMBL
InterPro Pept_A22A_PS2 UniProtKB/TrEMBL
  Peptidase_A22A UniProtKB/TrEMBL
  Preselin/SPP UniProtKB/TrEMBL
  Presenilin_C UniProtKB/TrEMBL
KEGG Report pps:100975191 UniProtKB/TrEMBL
NCBI Gene PSEN2 ENTREZGENE
PANTHER PRESENILIN-2 UniProtKB/TrEMBL
  PTHR10202 UniProtKB/TrEMBL
Pfam Presenilin UniProtKB/TrEMBL
PRINTS PRESENILIN UniProtKB/TrEMBL
  PRESENILIN2 UniProtKB/TrEMBL
SMART PSN UniProtKB/TrEMBL
UniProt A0A2R9A5I7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9AA90 ENTREZGENE, UniProtKB/TrEMBL