PSEN2 (presenilin 2) - Rat Genome Database

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Gene: PSEN2 (presenilin 2) Canis lupus familiaris
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Symbol: PSEN2
Name: presenilin 2
RGD ID: 12418449
Description: ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (ortholog); endopeptidase activity (ortholog); INVOLVED IN amyloid precursor protein catabolic process (ortholog); amyloid-beta formation (ortholog); amyloid-beta metabolic process (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: PROVISIONAL
Also known as: presenilin 2 (Alzheimer disease 4); presenilin-2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
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 (-)NCBI
ROS_Cfam_1.0737,981,322 - 38,006,377 (-)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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid precursor protein catabolic process  (ISO)
amyloid-beta formation  (ISO)
amyloid-beta metabolic process  (ISO)
brain morphogenesis  (ISO)
calcium ion transport  (ISO)
cardiac muscle contraction  (ISO)
cell fate specification  (ISO)
cellular protein metabolic process  (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)
learning or memory  (ISO)
locomotion  (ISO)
lung alveolus development  (ISO)
membrane protein ectodomain proteolysis  (ISO)
memory  (ISO)
mitochondrion-endoplasmic reticulum membrane tethering  (ISO)
myeloid leukocyte differentiation  (ISO)
negative regulation of apoptotic signaling pathway  (ISO)
negative regulation of epidermal growth factor-activated receptor activity  (ISO)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISO)
negative regulation of protein binding  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein-containing complex assembly  (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  (ISO)
positive regulation of apoptotic process  (ISO)
positive regulation of catalytic activity  (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 maturation  (ISO)
protein processing  (ISO)
protein transport  (ISO)
regulation of calcium import into the mitochondrion  (ISO)
regulation of epidermal growth factor-activated receptor activity  (ISO)
regulation of protein binding  (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:20875843  


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 (-)NCBI
ROS_Cfam_1.0737,981,322 - 38,006,377 (-)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
PSEN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1226,870,184 - 226,927,726 (+)EnsemblGRCh38hg38GRCh38
GRCh381226,870,594 - 226,903,829 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371227,058,317 - 227,083,799 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361225,124,896 - 225,150,427 (+)NCBINCBI36hg18NCBI36
Build 341223,365,694 - 223,390,532NCBI
Celera1200,249,068 - 200,274,610 (+)NCBI
Cytogenetic Map1q42.13NCBI
HuRef1197,575,178 - 197,600,711 (+)NCBIHuRef
CHM1_11228,331,030 - 228,356,564 (+)NCBICHM1_1
Psen2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,054,569 - 180,091,030 (-)NCBIGRCm39mm39
GRCm39 Ensembl1180,054,569 - 180,091,003 (-)Ensembl
GRCm381180,227,004 - 180,263,467 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,227,004 - 180,263,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371182,157,135 - 182,186,431 (-)NCBIGRCm37mm9NCBIm37
MGSCv361182,063,681 - 182,082,576 (-)NCBImm8
Celera1187,291,668 - 187,320,266 (-)NCBICelera
Cytogenetic Map1H4NCBI
cM Map184.19NCBI
Psen2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21391,967,506 - 91,993,240 (-)NCBI
Rnor_6.0 Ensembl1398,513,570 - 98,530,724 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01398,513,600 - 98,539,347 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.013103,521,460 - 103,547,174 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41395,934,674 - 95,951,836 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11207,320,937 - 207,346,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1207,320,937 - 207,346,295 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01202,328,987 - 202,354,440 (+)NCBIMhudiblu_PPA_v0panPan3
Psen2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934451,135,578 - 51,163,137 (-)NCBI
SpeTri2.0NW_0049365263,584,194 - 3,611,719 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSEN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1014,532,550 - 14,561,858 (+)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 (-)NCBI
ChlSab1.1 Ensembl252,862,251 - 2,877,386 (-)Ensembl
Vero_WHO_p1.0NW_0236660552,849,316 - 2,875,698 (-)NCBI
Psen2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477117,183,538 - 17,205,460 (-)NCBI


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 1 19 4 4 4 1 12 10 3
Low 5 4 3 2 2 2 6 5 8 3
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSCAFT00000025451   ⟹   ENSCAFP00000023632
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,166,722 (-)Ensembl
RefSeq Acc Id: ENSCAFT00000066667   ⟹   ENSCAFP00000060221
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,163,183 (-)Ensembl
RefSeq Acc Id: ENSCAFT00000068862   ⟹   ENSCAFP00000053202
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl738,147,173 - 38,163,183 (-)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
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,322 - 38,006,314 (-)NCBI
RefSeq Acc Id: XM_038670536   ⟹   XP_038526464
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,738 - 38,006,377 (-)NCBI
RefSeq Acc Id: XM_038670537   ⟹   XP_038526465
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,857 - 38,000,261 (-)NCBI
RefSeq Acc Id: XM_038670538   ⟹   XP_038526466
RefSeq Status:
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0737,981,738 - 38,006,314 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001271394   ⟸   NM_001284465
- UniProtKB: M1V4F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000053202   ⟸   ENSCAFT00000068862
RefSeq Acc Id: ENSCAFP00000023632   ⟸   ENSCAFT00000025451
RefSeq Acc Id: ENSCAFP00000060221   ⟸   ENSCAFT00000066667
RefSeq Acc Id: XP_038526463   ⟸   XM_038670535
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038526464   ⟸   XM_038670536
- Peptide Label: isoform X1
RefSeq Acc Id: XP_038526466   ⟸   XM_038670538
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038526465   ⟸   XM_038670537
- Peptide Label: isoform X1


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000016039 Ensembl, ENTREZGENE
Ensembl Protein ENSCAFP00000023632 ENTREZGENE
Ensembl Transcript ENSCAFT00000025451 ENTREZGENE
NCBI Gene PSEN2 ENTREZGENE
UniProt M1V4F1 ENTREZGENE
VGNC ID VGNC:45086 ENTREZGENE