PSEN2 (presenilin 2) - Rat Genome Database

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Gene: PSEN2 (presenilin 2) Canis lupus familiaris
Analyze
Symbol: PSEN2
Name: presenilin 2
RGD ID: 12418449
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: PROVISIONAL
Previously known as: presenilin 2 (Alzheimer disease 4); presenilin-2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
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
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 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)
ubiquinone biosynthetic process  (IEA)

Molecular Function

References
Additional References at PubMed
PMID:20875843   PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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

Variants

.
Variants in PSEN2
151 total Variants

Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
reproductive system
respiratory system
6 5 5 23 22 16 6 6 6 6 33 22 12 14 10

Sequence


Ensembl Acc Id: ENSCAFT00000025451   ⟹   ENSCAFP00000023632
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,166,722 (-)Ensembl
Ensembl Acc Id: ENSCAFT00000066667   ⟹   ENSCAFP00000060221
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,163,183 (-)Ensembl
Ensembl Acc Id: ENSCAFT00000068862   ⟹   ENSCAFP00000053202
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,163,183 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845014159   ⟹   ENSCAFP00845010976
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl737,980,700 - 38,006,369 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845014216   ⟹   ENSCAFP00845011021
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl737,980,700 - 37,997,452 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845014282   ⟹   ENSCAFP00845011070
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl737,980,700 - 37,994,888 (-)Ensembl
RefSeq Acc Id: NM_001284465   ⟹   NP_001271394
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1738,147,157 - 38,163,023 (-)NCBI
Dog10K_Boxer_Tasha737,629,753 - 37,654,335 (-)NCBI
ROS_Cfam_1.0737,981,738 - 38,006,328 (-)NCBI
UMICH_Zoey_3.1737,820,678 - 37,845,261 (-)NCBI
UNSW_CanFamBas_1.0737,827,826 - 37,852,402 (-)NCBI
UU_Cfam_GSD_1.0738,098,241 - 38,122,853 (-)NCBI
Sequence:
RefSeq Acc Id: XM_038670535   ⟹   XP_038526463
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,322 - 38,006,314 (-)NCBI
RefSeq Acc Id: XM_038670536   ⟹   XP_038526464
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,738 - 38,006,377 (-)NCBI
RefSeq Acc Id: XM_038670537   ⟹   XP_038526465
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,857 - 38,000,261 (-)NCBI
RefSeq Acc Id: XM_038670538   ⟹   XP_038526466
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,738 - 38,006,314 (-)NCBI
RefSeq Acc Id: NP_001271394   ⟸   NM_001284465
- UniProtKB: M1V4F1 (UniProtKB/TrEMBL),   M1VRQ9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSCAFP00000053202   ⟸   ENSCAFT00000068862
Ensembl Acc Id: ENSCAFP00000023632   ⟸   ENSCAFT00000025451
Ensembl Acc Id: ENSCAFP00000060221   ⟸   ENSCAFT00000066667
RefSeq Acc Id: XP_038526463   ⟸   XM_038670535
- Peptide Label: isoform X1
- UniProtKB: A0A8C0SA26 (UniProtKB/TrEMBL),   M1VRQ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038526464   ⟸   XM_038670536
- Peptide Label: isoform X1
- UniProtKB: A0A8C0SA26 (UniProtKB/TrEMBL),   M1VRQ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038526466   ⟸   XM_038670538
- Peptide Label: isoform X2
- UniProtKB: A0A8I3NJ39 (UniProtKB/TrEMBL),   A0A8P0T5P1 (UniProtKB/TrEMBL),   A0A8C0SA26 (UniProtKB/TrEMBL),   M1VRQ9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038526465   ⟸   XM_038670537
- Peptide Label: isoform X1
- UniProtKB: A0A8C0SA26 (UniProtKB/TrEMBL),   M1VRQ9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSCAFP00845010976   ⟸   ENSCAFT00845014159
Ensembl Acc Id: ENSCAFP00845011021   ⟸   ENSCAFT00845014216
Ensembl Acc Id: ENSCAFP00845011070   ⟸   ENSCAFT00845014282
Protein Domains
ABC1 atypical kinase-like


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000016039 Ensembl, UniProtKB/TrEMBL
  ENSCAFG00030005206 UniProtKB/TrEMBL
  ENSCAFG00040011062 UniProtKB/TrEMBL
  ENSCAFG00845008023 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000025451.5 UniProtKB/TrEMBL
  ENSCAFT00000066667.2 UniProtKB/TrEMBL
  ENSCAFT00000068862.2 UniProtKB/TrEMBL
  ENSCAFT00030009626.1 UniProtKB/TrEMBL
  ENSCAFT00030009685.1 UniProtKB/TrEMBL
  ENSCAFT00030009807.1 UniProtKB/TrEMBL
  ENSCAFT00040020483.1 UniProtKB/TrEMBL
  ENSCAFT00040020754.1 UniProtKB/TrEMBL
  ENSCAFT00040020960.1 UniProtKB/TrEMBL
  ENSCAFT00845014159 ENTREZGENE
  ENSCAFT00845014159.1 UniProtKB/TrEMBL
  ENSCAFT00845014216 ENTREZGENE
  ENSCAFT00845014216.1 UniProtKB/TrEMBL
  ENSCAFT00845014282.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.100 UniProtKB/TrEMBL
InterPro ABC1_dom UniProtKB/TrEMBL
  ADCK3_dom UniProtKB/TrEMBL
  Atypical_kinase_ADCK UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/TrEMBL
  Pept_A22A_PS2 UniProtKB/TrEMBL
  Peptidase_A22A UniProtKB/TrEMBL
  Preselin/SPP UniProtKB/TrEMBL
  Presenilin_C UniProtKB/TrEMBL
KEGG Report cfa:490382 UniProtKB/TrEMBL
NCBI Gene PSEN2 ENTREZGENE
PANTHER ATYPICAL KINASE COQ8A, MITOCHONDRIAL UniProtKB/TrEMBL
  PRESENILIN-2 UniProtKB/TrEMBL
  PTHR10202 UniProtKB/TrEMBL
  PTHR43851 UniProtKB/TrEMBL
Pfam ABC1 UniProtKB/TrEMBL
  Presenilin UniProtKB/TrEMBL
PRINTS PRESENILIN UniProtKB/TrEMBL
  PRESENILIN2 UniProtKB/TrEMBL
SMART PSN UniProtKB/TrEMBL
Superfamily-SCOP Protein kinase-like (PK-like) UniProtKB/TrEMBL
UniProt A0A8C0MEL7_CANLF UniProtKB/TrEMBL
  A0A8C0MFE5_CANLF UniProtKB/TrEMBL
  A0A8C0RD36_CANLF UniProtKB/TrEMBL
  A0A8C0S9U3_CANLF UniProtKB/TrEMBL
  A0A8C0SA26 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0YVB0_CANLF UniProtKB/TrEMBL
  A0A8I3MYF0_CANLF UniProtKB/TrEMBL
  A0A8I3N5I6_CANLF UniProtKB/TrEMBL
  A0A8I3NJ39 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0NHD4_CANLF UniProtKB/TrEMBL
  A0A8P0P988_CANLF UniProtKB/TrEMBL
  A0A8P0T5P1 ENTREZGENE, UniProtKB/TrEMBL
  M1V4F1 ENTREZGENE, UniProtKB/TrEMBL
  M1VRQ9 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:45086 ENTREZGENE