PSENEN (presenilin enhancer, gamma-secretase subunit) - Rat Genome Database

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Gene: PSENEN (presenilin enhancer, gamma-secretase subunit) Homo sapiens
Analyze
Symbol: PSENEN
Name: presenilin enhancer, gamma-secretase subunit
RGD ID: 1347919
HGNC Page HGNC:30100
Description: Enables endopeptidase activator activity and enzyme binding activity. Involved in amyloid-beta formation and proteolysis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. Part of gamma-secretase complex. Implicated in hidradenitis suppurativa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACNINV2; gamma-secretase subunit PEN-2; hematopoietic stem/progenitor cells protein MDS033; MDS033; MSTP064; PEN-2; PEN2; presenilin enhancer 2 homolog; presenilin enhancer gamma secretase subunit; presenilin enhancer gamma-secretase subunit; presenilin enhancer protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,745,651 - 35,747,519 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,745,600 - 35,747,519 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,236,552 - 36,238,420 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,928,334 - 40,929,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,928,333 - 40,929,743NCBI
Celera1932,949,971 - 32,951,380 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,741,466 - 32,743,044 (+)NCBIHuRef
CHM1_11936,237,788 - 36,239,366 (+)NCBICHM1_1
T2T-CHM13v2.01938,290,961 - 38,292,828 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10206645   PMID:12110170   PMID:12198112   PMID:12477932   PMID:12522139   PMID:12639958   PMID:12660785   PMID:12679784   PMID:12740439   PMID:12763021   PMID:12787561   PMID:12843241  
PMID:14572442   PMID:15274632   PMID:15322084   PMID:15322109   PMID:15474363   PMID:15489334   PMID:15721744   PMID:15953349   PMID:15975090   PMID:16234243   PMID:16234244   PMID:16331303  
PMID:16449647   PMID:16630834   PMID:16641999   PMID:16712791   PMID:17280645   PMID:17668005   PMID:17911105   PMID:17986144   PMID:18201567   PMID:18667537   PMID:19036728   PMID:19376115  
PMID:19889971   PMID:20178366   PMID:20534834   PMID:20811458   PMID:20847418   PMID:20929727   PMID:21115843   PMID:21412258   PMID:21454611   PMID:21516116   PMID:21852538   PMID:21873635  
PMID:21988832   PMID:22074918   PMID:22479317   PMID:22622421   PMID:22689582   PMID:22771797   PMID:22787762   PMID:23096707   PMID:23134962   PMID:23246698   PMID:23685131   PMID:24865334  
PMID:25043039   PMID:25614624   PMID:25673856   PMID:25814654   PMID:25893612   PMID:25918421   PMID:26025363   PMID:26044244   PMID:26065893   PMID:26067312   PMID:26094765   PMID:26280335  
PMID:26296997   PMID:26402014   PMID:26481686   PMID:26559975   PMID:26581893   PMID:26967585   PMID:27220847   PMID:27580372   PMID:28096459   PMID:28287404   PMID:28922471   PMID:29047105  
PMID:29851073   PMID:30105992   PMID:30232004   PMID:30559186   PMID:32184288   PMID:32296183   PMID:32631487   PMID:32814053   PMID:33961781   PMID:34330582   PMID:34964690   PMID:35458534  


Genomics

Comparative Map Data
PSENEN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,745,651 - 35,747,519 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,745,600 - 35,747,519 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,236,552 - 36,238,420 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,928,334 - 40,929,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,928,333 - 40,929,743NCBI
Celera1932,949,971 - 32,951,380 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,741,466 - 32,743,044 (+)NCBIHuRef
CHM1_11936,237,788 - 36,239,366 (+)NCBICHM1_1
T2T-CHM13v2.01938,290,961 - 38,292,828 (+)NCBIT2T-CHM13v2.0
Psenen
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,261,290 - 30,263,052 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,261,288 - 30,263,052 (-)EnsemblGRCm39 Ensembl
GRCm38730,561,865 - 30,563,627 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,561,863 - 30,563,627 (-)EnsemblGRCm38mm10GRCm38
MGSCv37731,346,884 - 31,348,203 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,270,625 - 30,271,944 (-)NCBIMGSCv36mm8
Celera725,153,627 - 25,154,945 (-)NCBICelera
Cytogenetic Map7B1NCBI
cM Map718.6NCBI
Psenen
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8194,942,348 - 94,943,545 (-)NCBIGRCr8
mRatBN7.2185,814,905 - 85,816,654 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,814,905 - 85,816,192 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx191,231,624 - 91,232,834 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,697,789 - 99,698,999 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,989,904 - 92,991,115 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0189,016,093 - 89,017,449 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl189,016,096 - 89,017,290 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,170,908 - 90,172,275 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,607,051 - 85,608,248 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1185,685,281 - 85,686,137 (-)NCBI
Celera180,186,425 - 80,187,622 (-)NCBICelera
Cytogenetic Map1q21NCBI
Psenen
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,805,153 - 2,806,573 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554682,805,153 - 2,806,573 (-)NCBIChiLan1.0ChiLan1.0
PSENEN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22041,739,832 - 41,741,270 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,725,157 - 43,726,595 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,675,331 - 32,677,285 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11941,409,662 - 41,411,089 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,409,662 - 41,411,089 (+)Ensemblpanpan1.1panPan2
PSENEN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11116,887,155 - 116,888,444 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1116,886,972 - 116,888,458 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,292,416 - 116,293,705 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01117,490,131 - 117,491,420 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1117,489,948 - 117,491,434 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11117,053,507 - 117,054,796 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01116,677,128 - 116,678,417 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01117,732,508 - 117,733,796 (-)NCBIUU_Cfam_GSD_1.0
Psenen
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934911,067,846 - 11,069,160 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936570576,722 - 578,010 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936570576,722 - 578,022 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSENEN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl645,171,825 - 45,174,102 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1645,171,825 - 45,174,112 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,627,906 - 40,629,565 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PSENEN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,655,162 - 30,656,587 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl630,655,243 - 30,656,584 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660738,446,437 - 8,447,968 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Psenen
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479410,053,114 - 10,054,411 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479410,053,085 - 10,054,411 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSENEN
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_172341.3(PSENEN):c.66del deletion Acne inversa, familial, 2 [RCV000023658] Chr19:35746418 [GRCh38]
Chr19:36237319 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_172341.4(PSENEN):c.279del (p.Phe94fs) deletion Acne inversa, familial, 2 [RCV000023659] Chr19:35746819 [GRCh38]
Chr19:36237720 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_144987.3(U2AF1L4):c.501C>T (p.Pro167=) single nucleotide variant Malignant melanoma [RCV000072095] Chr19:35742706 [GRCh38]
Chr19:36233607 [GRCh37]
Chr19:40925447 [NCBI36]
Chr19:19q13.12		 not provided
NM_172341.3(PSENEN):c.66dup duplication Acne inversa, familial, 2 [RCV000515755] Chr19:35746417..35746418 [GRCh38]
Chr19:36237318..36237319 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
NM_172341.4(PSENEN):c.167-2A>G single nucleotide variant Acne inversa, familial, 2 [RCV000515756] Chr19:35746706 [GRCh38]
Chr19:36237607 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) single nucleotide variant Acne inversa, familial, 2 [RCV000515753] Chr19:35746735 [GRCh38]
Chr19:36237636 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) single nucleotide variant Acne inversa, familial, 2 [RCV000515757] Chr19:35745965 [GRCh38]
Chr19:36236866 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh37/hg19 19q13.12(chr19:36227660-36250792)x3 copy number gain Breast ductal adenocarcinoma [RCV000207170] Chr19:36227660..36250792 [GRCh37]
Chr19:19q13.12		 likely pathogenic|uncertain significance
GRCh37/hg19 19q13.12(chr19:36227660-36268769)x3 copy number gain Breast ductal adenocarcinoma [RCV000207261] Chr19:36227660..36268769 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.61+17G>C single nucleotide variant Acne inversa, familial, 2 [RCV000605712]|not provided [RCV001520178] Chr19:35746008 [GRCh38]
Chr19:36236909 [GRCh37]
Chr19:19q13.12		 benign
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 copy number loss See cases [RCV000511504] Chr19:36147111..37249653 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_172341.4(PSENEN):c.62-1G>C single nucleotide variant Acne inversa, familial, 2 [RCV000515758] Chr19:35746418 [GRCh38]
Chr19:36237319 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele deletion Dystonic disorder [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_172341.4(PSENEN):c.175C>T (p.Arg59Cys) single nucleotide variant not provided [RCV003107092] Chr19:35746716 [GRCh38]
Chr19:36237617 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
NM_172341.4(PSENEN):c.168T>G (p.Tyr56Ter) single nucleotide variant not provided [RCV001349524] Chr19:35746709 [GRCh38]
Chr19:36237610 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 copy number gain not provided [RCV001833065] Chr19:36019064..36516110 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_172341.4(PSENEN):c.61+3A>G single nucleotide variant not provided [RCV001984442] Chr19:35745994 [GRCh38]
Chr19:36236895 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.256G>T (p.Gly86Cys) single nucleotide variant not provided [RCV001874450] Chr19:35746797 [GRCh38]
Chr19:36237698 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.246G>A (p.Arg82=) single nucleotide variant not provided [RCV001970015] Chr19:35746787 [GRCh38]
Chr19:36237688 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.184G>A (p.Val62Met) single nucleotide variant not provided [RCV002032140] Chr19:35746725 [GRCh38]
Chr19:36237626 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.137C>A (p.Ala46Asp) single nucleotide variant not provided [RCV001974103] Chr19:35746494 [GRCh38]
Chr19:36237395 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.75C>G (p.Phe25Leu) single nucleotide variant not provided [RCV001883000] Chr19:35746432 [GRCh38]
Chr19:36237333 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.61+13_61+21del deletion not provided [RCV002207414] Chr19:35746002..35746010 [GRCh38]
Chr19:36236903..36236911 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.249C>T (p.Pro83=) single nucleotide variant not provided [RCV002139303] Chr19:35746790 [GRCh38]
Chr19:36237691 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.61+14C>T single nucleotide variant not provided [RCV002204416] Chr19:35746005 [GRCh38]
Chr19:36236906 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.57C>T (p.Tyr19=) single nucleotide variant not provided [RCV002913362] Chr19:35745987 [GRCh38]
Chr19:36236888 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.251G>A (p.Arg84His) single nucleotide variant not provided [RCV002780712] Chr19:35746792 [GRCh38]
Chr19:36237693 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.299C>A (p.Thr100Asn) single nucleotide variant Inborn genetic diseases [RCV002924871] Chr19:35746840 [GRCh38]
Chr19:36237741 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.167-16C>G single nucleotide variant not provided [RCV002597239] Chr19:35746692 [GRCh38]
Chr19:36237593 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.195C>T (p.Leu65=) single nucleotide variant not provided [RCV003040356] Chr19:35746736 [GRCh38]
Chr19:36237637 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.167-11T>C single nucleotide variant not provided [RCV002765711] Chr19:35746697 [GRCh38]
Chr19:36237598 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.305G>A (p.Ter102=) single nucleotide variant not provided [RCV002899498] Chr19:35746846 [GRCh38]
Chr19:36237747 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV003088227] Chr19:35745970 [GRCh38]
Chr19:36236871 [GRCh37]
Chr19:19q13.12		 benign
NM_172341.4(PSENEN):c.263T>C (p.Leu88Pro) single nucleotide variant not provided [RCV002653637] Chr19:35746804 [GRCh38]
Chr19:36237705 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.245G>A (p.Arg82Gln) single nucleotide variant Inborn genetic diseases [RCV003190069] Chr19:35746786 [GRCh38]
Chr19:36237687 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.185_200del (p.Val62fs) deletion Acne inversa, familial, 2 [RCV003337882] Chr19:35746723..35746738 [GRCh38]
Chr19:36237624..36237639 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.65G>A (p.Gly22Glu) single nucleotide variant not provided [RCV003543743] Chr19:35746422 [GRCh38]
Chr19:36237323 [GRCh37]
Chr19:19q13.12		 uncertain significance
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_172341.4(PSENEN):c.61+10A>G single nucleotide variant not provided [RCV003549473] Chr19:35746001 [GRCh38]
Chr19:36236902 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.61+17G>T single nucleotide variant not provided [RCV003560639] Chr19:35746008 [GRCh38]
Chr19:36236909 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.167-4A>G single nucleotide variant not provided [RCV003724881] Chr19:35746704 [GRCh38]
Chr19:36237605 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.166+12G>T single nucleotide variant not provided [RCV003676471] Chr19:35746535 [GRCh38]
Chr19:36237436 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.61+19G>A single nucleotide variant not provided [RCV003820754] Chr19:35746010 [GRCh38]
Chr19:36236911 [GRCh37]
Chr19:19q13.12		 likely benign
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_172341.4(PSENEN):c.127C>T (p.Leu43Phe) single nucleotide variant not provided [RCV003842233] Chr19:35746484 [GRCh38]
Chr19:36237385 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.173G>C (p.Trp58Ser) single nucleotide variant not provided [RCV003677734] Chr19:35746714 [GRCh38]
Chr19:36237615 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.240C>A (p.Ile80=) single nucleotide variant not provided [RCV003711708] Chr19:35746781 [GRCh38]
Chr19:36237682 [GRCh37]
Chr19:19q13.12		 likely benign
NM_172341.4(PSENEN):c.71C>G (p.Ala24Gly) single nucleotide variant not provided [RCV003568798] Chr19:35746428 [GRCh38]
Chr19:36237329 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.4(PSENEN):c.225C>G (p.Ile75Met) single nucleotide variant not provided [RCV003681567] Chr19:35746766 [GRCh38]
Chr19:36237667 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_172341.3(PSENEN):c.-187A>G single nucleotide variant PSENEN-related condition [RCV003951994] Chr19:35745610 [GRCh38]
Chr19:36236511 [GRCh37]
Chr19:19q13.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:907
Count of miRNA genes:383
Interacting mature miRNAs:419
Transcripts:ENST00000222266, ENST00000587708, ENST00000591949
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,238,259 - 36,238,378UniSTSGRCh37
Build 361940,930,099 - 40,930,218RGDNCBI36
Celera1932,951,736 - 32,951,855RGD
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.1UniSTS
HuRef1932,743,247 - 32,743,366UniSTS
GeneMap99-GB4 RH Map19216.14UniSTS
RH99245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,234,775 - 36,235,278UniSTSGRCh37
Build 361940,926,615 - 40,927,118RGDNCBI36
Celera1932,948,252 - 32,948,755RGD
Cytogenetic Map19q13.12UniSTS
HuRef1932,739,763 - 32,740,266UniSTS


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 renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4 1
Medium 2431 2862 1712 611 1924 453 4335 2076 3654 417 1444 1606 171 1204 2769 3
Low 8 129 14 13 27 12 21 121 80 2 12 6 4 1 19 3 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000222266   ⟹   ENSP00000222266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,745,619 - 35,747,004 (+)Ensembl
RefSeq Acc Id: ENST00000587708   ⟹   ENSP00000468411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,745,651 - 35,747,519 (+)Ensembl
RefSeq Acc Id: ENST00000591949   ⟹   ENSP00000468593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,745,600 - 35,746,993 (+)Ensembl
RefSeq Acc Id: NM_001281532   ⟹   NP_001268461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,745,651 - 35,747,519 (+)NCBI
HuRef1932,741,466 - 32,743,044 (+)NCBI
CHM1_11936,237,788 - 36,239,366 (+)NCBI
T2T-CHM13v2.01938,290,961 - 38,292,828 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172341   ⟹   NP_758844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,745,651 - 35,747,519 (+)NCBI
GRCh371936,236,478 - 36,238,056 (+)NCBI
Build 361940,928,334 - 40,929,743 (+)NCBI Archive
HuRef1932,741,466 - 32,743,044 (+)NCBI
CHM1_11936,237,788 - 36,239,366 (+)NCBI
T2T-CHM13v2.01938,290,961 - 38,292,828 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001268461 (Get FASTA)   NCBI Sequence Viewer  
  NP_758844 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF67646 (Get FASTA)   NCBI Sequence Viewer  
  AAH09575 (Get FASTA)   NCBI Sequence Viewer  
  BAG35166 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222266
  ENSP00000222266.1
  ENSP00000468411
  ENSP00000468411.1
  ENSP00000468593.1
GenBank Protein Q9NZ42 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_758844   ⟸   NM_172341
- UniProtKB: B2R5L9 (UniProtKB/Swiss-Prot),   Q9NZ42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001268461   ⟸   NM_001281532
- UniProtKB: B2R5L9 (UniProtKB/Swiss-Prot),   Q9NZ42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000468411   ⟸   ENST00000587708
RefSeq Acc Id: ENSP00000222266   ⟸   ENST00000222266
RefSeq Acc Id: ENSP00000468593   ⟸   ENST00000591949

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZ42-F1-model_v2 AlphaFold Q9NZ42 1-101 view protein structure

Promoters
RGD ID:7239579
Promoter ID:EPDNEW_H25534
Type:initiation region
Name:PSENEN_2
Description:presenilin enhancer gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25536  EPDNEW_H25538  EPDNEW_H25539  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,745,070 - 35,745,130EPDNEW
RGD ID:7239581
Promoter ID:EPDNEW_H25536
Type:initiation region
Name:PSENEN_4
Description:presenilin enhancer gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25534  EPDNEW_H25538  EPDNEW_H25539  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,745,619 - 35,745,679EPDNEW
RGD ID:7239585
Promoter ID:EPDNEW_H25538
Type:initiation region
Name:PSENEN_1
Description:presenilin enhancer gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25534  EPDNEW_H25536  EPDNEW_H25539  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,746,422 - 35,746,482EPDNEW
RGD ID:7239587
Promoter ID:EPDNEW_H25539
Type:initiation region
Name:PSENEN_3
Description:presenilin enhancer gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25534  EPDNEW_H25536  EPDNEW_H25538  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,747,246 - 35,747,306EPDNEW
RGD ID:6795966
Promoter ID:HG_KWN:29680
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392196,   NM_001040425,   NM_144987,   NM_172341,   UC002OBG.1,   UC002OBJ.1,   UC002OBK.1,   UC010EEJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,927,331 - 40,928,362 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30100 AgrOrtholog
COSMIC PSENEN COSMIC
Ensembl Genes ENSG00000205155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222266 ENTREZGENE
  ENST00000222266.2 UniProtKB/Swiss-Prot
  ENST00000587708 ENTREZGENE
  ENST00000587708.7 UniProtKB/Swiss-Prot
  ENST00000591949.1 UniProtKB/TrEMBL
GTEx ENSG00000205155 GTEx
HGNC ID HGNC:30100 ENTREZGENE
Human Proteome Map PSENEN Human Proteome Map
InterPro Gamma_Secretase_Asp_P_PEN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55851 UniProtKB/Swiss-Prot
NCBI Gene 55851 ENTREZGENE
OMIM 607632 OMIM
PANTHER GAMMA-SECRETASE SUBUNIT PEN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16318 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PEN-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671122 PharmGKB
UniProt B2R5L9 ENTREZGENE
  K7ES79_HUMAN UniProtKB/TrEMBL
  PEN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R5L9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 PSENEN  presenilin enhancer, gamma-secretase subunit  PSENEN  presenilin enhancer gamma-secretase subunit  Symbol and/or name change 5135510 APPROVED
2016-05-19 PSENEN  presenilin enhancer gamma-secretase subunit  PSENEN  presenilin enhancer gamma secretase subunit  Symbol and/or name change 5135510 APPROVED
2013-09-17 PSENEN  presenilin enhancer gamma secretase subunit  PSENEN  presenilin enhancer 2 homolog (C. elegans)  Symbol and/or name change 5135510 APPROVED