PSEN2 (presenilin 2) - Rat Genome Database

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Pathways
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Gene: PSEN2 (presenilin 2) Chlorocebus sabaeus
Analyze
Symbol: PSEN2
Name: presenilin 2
RGD ID: 18417300
Description: ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta formation (ortholog); amyloid-beta metabolic process (ortholog); apoptotic signaling pathway (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 centrosome (ortholog); ciliary basal body (ortholog); cytosol (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: presenilin-2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: ChlSab1.1 - Green Monkey 1.1 Assembly
Position:
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
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  (ISO)
amyloid-beta metabolic process  (IEA,ISO)
apoptotic signaling pathway  (ISO)
brain morphogenesis  (ISO)
calcium ion transport  (IEA,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  (ISO)
myeloid leukocyte differentiation  (ISO)
negative regulation of apoptotic process  (IEA)
negative regulation of apoptotic signaling pathway  (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)
neuroinflammatory response  (ISO)
neuron cellular homeostasis  (ISO)
Notch receptor processing  (IEA)
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 metabolic process  (ISO)
protein processing  (IEA,ISO)
protein transport  (ISO)
proteolysis  (IEA)
regulation of calcium import into the mitochondrion  (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
(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
(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
(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
(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
(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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

endocrine system hemolymphoid system nervous system
High
Medium 36 2 44
Low 18 16
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSCSAT00000014466   ⟹   ENSCSAP00000012438
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1 Ensembl252,862,251 - 2,877,386 (-)Ensembl
RefSeq Acc Id: XM_007988252   ⟹   XP_007986443
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,735 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007988253   ⟹   XP_007986444
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,735 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,484 - 2,875,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007988254   ⟹   XP_007986445
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,732 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,718 - 2,875,696 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007988255   ⟹   XP_007986446
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,735 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007988256   ⟹   XP_007986447
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,735 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_007988257   ⟹   XP_007986448
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
ChlSab1.1252,862,354 - 2,888,735 (-)NCBI
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_037985493   ⟹   XP_037841421
Type: CODING
Position:
Green Monkey AssemblyChrPosition (strand)Source
Vero_WHO_p1.0NW_0236660552,849,718 - 2,875,361 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_007986447   ⟸   XM_007988256
- Peptide Label: isoform X2
RefSeq Acc Id: XP_007986444   ⟸   XM_007988253
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RUZ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_007986448   ⟸   XM_007988257
- Peptide Label: isoform X3
RefSeq Acc Id: XP_007986446   ⟸   XM_007988255
- Peptide Label: isoform X2
RefSeq Acc Id: XP_007986443   ⟸   XM_007988252
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RUZ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_007986445   ⟸   XM_007988254
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RUZ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCSAP00000012438   ⟸   ENSCSAT00000014466
RefSeq Acc Id: XP_037841421   ⟸   XM_037985493
- Peptide Label: isoform X1
- UniProtKB: A0A0D9RUZ9 (UniProtKB/TrEMBL)


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCSAG00000016372 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCSAT00000014466.1 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 csab:103229985 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 A0A0D9RUZ9 ENTREZGENE, UniProtKB/TrEMBL