PSMD2 (proteasome 26S subunit ubiquitin receptor, non-ATPase 2) - Rat Genome Database

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Gene: PSMD2 (proteasome 26S subunit ubiquitin receptor, non-ATPase 2) Homo sapiens
Analyze
Symbol: PSMD2
Name: proteasome 26S subunit ubiquitin receptor, non-ATPase 2
RGD ID: 1313972
HGNC Page HGNC
Description: Is predicted to contribute to endopeptidase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Localizes to proteasome complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 26S proteasome non-ATPase regulatory subunit 2; 26S proteasome regulatory subunit RPN1; 26S proteasome regulatory subunit S2; 26S proteasome subunit p97; 55.11 protein; MGC14274; P97; proteasome (prosome, macropain) 26S subunit, non-ATPase, 2; proteasome 26S subunit, non-ATPase 2; protein 55.11; Rpn1; S2; TNFR-associated protein 2; TRAP2; tumor necrosis factor receptor-associated protein 2; tumor necrosis factor type 1 receptor-associated protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PSMD2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3184,299,198 - 184,309,050 (+)EnsemblGRCh38hg38GRCh38
GRCh383184,299,241 - 184,309,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373184,017,029 - 184,026,838 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,499,716 - 185,509,534 (+)NCBINCBI36hg18NCBI36
Build 343185,499,723 - 185,509,542NCBI
Celera3182,457,704 - 182,467,523 (+)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,423,849 - 181,433,806 (+)NCBIHuRef
CHM1_13183,981,343 - 183,991,300 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

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

Human Phenotype
References

Additional References at PubMed
PMID:7601280   PMID:7639698   PMID:8774743   PMID:8811196   PMID:9079628   PMID:9126987   PMID:9811770   PMID:9846577   PMID:10625621   PMID:10893419   PMID:11278995   PMID:11285280  
PMID:11734547   PMID:12167863   PMID:12419264   PMID:12477932   PMID:12692129   PMID:12719574   PMID:12750511   PMID:12791267   PMID:12808465   PMID:12808466   PMID:12809610   PMID:12830140  
PMID:12840737   PMID:12859895   PMID:12914693   PMID:12920286   PMID:12970355   PMID:14527406   PMID:14528300   PMID:14528301   PMID:14550573   PMID:14557625   PMID:14564014   PMID:14614829  
PMID:14702039   PMID:14743216   PMID:15029244   PMID:15489334   PMID:15610744   PMID:15840729   PMID:16169070   PMID:16189514   PMID:16239144   PMID:16763564   PMID:16990800   PMID:17081983  
PMID:17110338   PMID:17220478   PMID:17314511   PMID:17323924   PMID:17353931   PMID:17502376   PMID:17573772   PMID:17646385   PMID:18079109   PMID:18086887   PMID:18337449   PMID:18457437  
PMID:18544348   PMID:18656546   PMID:18775313   PMID:18775730   PMID:18922472   PMID:19013454   PMID:19060904   PMID:19193609   PMID:19269966   PMID:19490896   PMID:19546213   PMID:19615732  
PMID:19626040   PMID:19638347   PMID:19738201   PMID:19815544   PMID:19881955   PMID:19946888   PMID:20085233   PMID:20458337   PMID:20467437   PMID:20473970   PMID:20479273   PMID:20562859  
PMID:20614012   PMID:20800603   PMID:20810900   PMID:21081666   PMID:21145461   PMID:21149444   PMID:21150319   PMID:21151955   PMID:21245296   PMID:21319273   PMID:21320693   PMID:21465578  
PMID:21571647   PMID:21726808   PMID:21733848   PMID:21873635   PMID:22145905   PMID:22238364   PMID:22275368   PMID:22434192   PMID:22466964   PMID:22586326   PMID:22623428   PMID:22645313  
PMID:22658674   PMID:22863883   PMID:22901813   PMID:22921402   PMID:22939629   PMID:22952844   PMID:23125841   PMID:23166591   PMID:23184937   PMID:23190606   PMID:23438482   PMID:23503661  
PMID:23667555   PMID:23751493   PMID:23798571   PMID:23824909   PMID:23956138   PMID:24121268   PMID:24158444   PMID:24256120   PMID:24337577   PMID:24657165   PMID:24711643   PMID:24951540  
PMID:25036637   PMID:25147182   PMID:25315684   PMID:25416956   PMID:25499913   PMID:25583071   PMID:25756610   PMID:25796446   PMID:25921289   PMID:25940091   PMID:25959826   PMID:25963833  
PMID:26186194   PMID:26344197   PMID:26476452   PMID:26496610   PMID:26511642   PMID:26514267   PMID:26549023   PMID:26638075   PMID:26641092   PMID:26687479   PMID:26693507   PMID:26748699  
PMID:26777405   PMID:26831064   PMID:26885983   PMID:26972000   PMID:27107012   PMID:27196060   PMID:27428775   PMID:27462432   PMID:27591049   PMID:27684187   PMID:27705803   PMID:27880917  
PMID:27926873   PMID:28137758   PMID:28190767   PMID:28276505   PMID:28292943   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28539385   PMID:28559284   PMID:28581483   PMID:28675297  
PMID:28685749   PMID:28821611   PMID:28900035   PMID:28902428   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29331416   PMID:29426014   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29564676   PMID:29581427   PMID:29656893   PMID:29777785   PMID:29804830   PMID:29845934   PMID:29863498   PMID:29871923   PMID:29991511   PMID:30126895   PMID:30179224  
PMID:30209976   PMID:30217970   PMID:30257870   PMID:30352685   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30664872   PMID:30711629   PMID:30745168  
PMID:30809309   PMID:30833792   PMID:30948266   PMID:31010829   PMID:31059266   PMID:31073040   PMID:31091453   PMID:31136974   PMID:31180492   PMID:31186535   PMID:31300519   PMID:31586073  
PMID:31594818   PMID:31703613   PMID:31740976   PMID:31792442   PMID:31842909   PMID:31901637   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32249768   PMID:32296183   PMID:32566659  
PMID:32694731   PMID:32814053   PMID:32877691   PMID:33144569  


Genomics

Comparative Map Data
PSMD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3184,299,198 - 184,309,050 (+)EnsemblGRCh38hg38GRCh38
GRCh383184,299,241 - 184,309,050 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373184,017,029 - 184,026,838 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,499,716 - 185,509,534 (+)NCBINCBI36hg18NCBI36
Build 343185,499,723 - 185,509,542NCBI
Celera3182,457,704 - 182,467,523 (+)NCBI
Cytogenetic Map3q27.1NCBI
HuRef3181,423,849 - 181,433,806 (+)NCBIHuRef
CHM1_13183,981,343 - 183,991,300 (+)NCBICHM1_1
Psmd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391620,469,872 - 20,482,164 (+)NCBIGRCm39mm39
GRCm39 Ensembl1620,470,402 - 20,482,164 (+)Ensembl
GRCm381620,651,122 - 20,663,414 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1620,651,652 - 20,663,414 (+)EnsemblGRCm38mm10GRCm38
MGSCv371620,651,725 - 20,663,487 (+)NCBIGRCm37mm9NCBIm37
MGSCv361620,565,238 - 20,576,957 (+)NCBImm8
Celera1621,216,674 - 21,228,436 (+)NCBICelera
Cytogenetic Map16A3NCBI
Psmd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21180,248,364 - 80,258,991 (-)NCBI
Rnor_6.0 Ensembl1183,934,087 - 83,944,763 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01183,934,098 - 83,944,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01187,006,146 - 87,016,773 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41182,478,177 - 82,488,804 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11182,535,765 - 82,546,399 (-)NCBI
Celera1179,088,072 - 79,098,699 (-)NCBICelera
Cytogenetic Map11q23NCBI
Psmd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542023,184,751 - 23,194,809 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542023,184,914 - 23,194,809 (-)NCBIChiLan1.0ChiLan1.0
PSMD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13189,818,655 - 189,828,596 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3189,818,655 - 189,828,596 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03181,336,634 - 181,346,471 (+)NCBIMhudiblu_PPA_v0panPan3
PSMD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13417,180,119 - 17,189,298 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3417,180,098 - 17,189,303 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3421,266,238 - 21,275,472 (+)NCBI
ROS_Cfam_1.03417,087,733 - 17,097,170 (+)NCBI
UMICH_Zoey_3.13417,124,866 - 17,134,298 (+)NCBI
UNSW_CanFamBas_1.03417,120,951 - 17,130,382 (+)NCBI
UU_Cfam_GSD_1.03417,350,119 - 17,359,348 (+)NCBI
Psmd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602119,479,115 - 119,488,470 (-)NCBI
SpeTri2.0NW_0049365785,570,969 - 5,580,334 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSMD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13122,157,036 - 122,199,464 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113122,187,500 - 122,199,397 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213131,627,272 - 131,639,168 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PSMD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,111,127 - 5,121,159 (-)NCBI
ChlSab1.1 Ensembl155,110,989 - 5,121,099 (-)Ensembl
Vero_WHO_p1.0NW_02366606313,888,809 - 13,899,029 (-)NCBI
Psmd2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473072,286,625 - 72,297,415 (-)NCBI

Position Markers
RH70376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,023,879 - 184,024,200UniSTSGRCh37
Build 363185,506,573 - 185,506,894RGDNCBI36
Celera3182,464,562 - 182,464,883RGD
Cytogenetic Map3q27.1UniSTS
HuRef3181,430,843 - 181,431,164UniSTS
GeneMap99-GB4 RH Map1747.07UniSTS
NCBI RH Map12008.2UniSTS
RH65279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,605 - 184,026,763UniSTSGRCh37
GRCh371240,305,883 - 240,306,040UniSTSGRCh37
Build 361238,372,506 - 238,372,663RGDNCBI36
Celera3182,467,288 - 182,467,446RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,433,569 - 181,433,727UniSTS
G62053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,614 - 184,026,796UniSTSGRCh37
GRCh371240,305,850 - 240,306,031UniSTSGRCh37
Build 361238,372,473 - 238,372,654RGDNCBI36
Celera3182,467,297 - 182,467,479UniSTS
Celera1213,561,079 - 213,561,260RGD
Cytogenetic Map1q43UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,433,578 - 181,433,760UniSTS
HuRef1210,764,146 - 210,764,329UniSTS
T03659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,258 - 184,026,618UniSTSGRCh37
GRCh371240,306,027 - 240,306,247UniSTSGRCh37
Build 361238,372,650 - 238,372,870RGDNCBI36
Celera1213,561,256 - 213,561,476RGD
Celera3182,466,941 - 182,467,301UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1q43UniSTS
HuRef3181,433,222 - 181,433,582UniSTS
HuRef1210,764,325 - 210,764,545UniSTS
Whitehead-YAC Contig Map3 UniSTS
PSMD2_2761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,026,408 - 184,026,830UniSTSGRCh37
Build 363185,509,102 - 185,509,524RGDNCBI36
Celera3182,467,091 - 182,467,513RGD
HuRef3181,433,372 - 181,433,794UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4327
Count of miRNA genes:1140
Interacting mature miRNAs:1475
Transcripts:ENST00000310118, ENST00000417952, ENST00000432855, ENST00000433010, ENST00000435761, ENST00000439383, ENST00000445558, ENST00000459910, ENST00000460628, ENST00000463602, ENST00000466987, ENST00000473991, ENST00000476461, ENST00000485937, ENST00000487475, ENST00000488085, ENST00000491149, ENST00000491494, ENST00000492191, ENST00000496925
Prediction methods:Microtar, 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.


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 1 1 1 13 6 1
Medium 2431 2920 1709 609 1926 451 4355 2152 3689 414 1435 1601 170 1204 2788 4
Low 1 69 16 14 23 13 1 43 40 4 5 1 3 1 2 1
Below cutoff 2 1 1 1 1 1 3 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI026024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY006627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U12596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310118   ⟹   ENSP00000310129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,241 - 184,309,050 (+)Ensembl
RefSeq Acc Id: ENST00000417952   ⟹   ENSP00000414061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,198 - 184,302,692 (+)Ensembl
RefSeq Acc Id: ENST00000432855   ⟹   ENSP00000400330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,305,847 - 184,307,902 (+)Ensembl
RefSeq Acc Id: ENST00000433010   ⟹   ENSP00000411494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,254 - 184,302,064 (+)Ensembl
RefSeq Acc Id: ENST00000435761   ⟹   ENSP00000402618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,300,581 - 184,309,000 (+)Ensembl
RefSeq Acc Id: ENST00000439383   ⟹   ENSP00000416028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,300,581 - 184,309,048 (+)Ensembl
RefSeq Acc Id: ENST00000445558   ⟹   ENSP00000407259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,904 - 184,302,775 (+)Ensembl
RefSeq Acc Id: ENST00000459910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,235 - 184,301,935 (+)Ensembl
RefSeq Acc Id: ENST00000460628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,302,740 - 184,303,915 (+)Ensembl
RefSeq Acc Id: ENST00000463602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,300,586 - 184,302,422 (+)Ensembl
RefSeq Acc Id: ENST00000466987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,303,028 - 184,304,011 (+)Ensembl
RefSeq Acc Id: ENST00000473991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,306,611 - 184,308,534 (+)Ensembl
RefSeq Acc Id: ENST00000476461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,257 - 184,300,444 (+)Ensembl
RefSeq Acc Id: ENST00000485937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,301,722 - 184,302,772 (+)Ensembl
RefSeq Acc Id: ENST00000487475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,239 - 184,302,061 (+)Ensembl
RefSeq Acc Id: ENST00000488085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,304,062 - 184,306,103 (+)Ensembl
RefSeq Acc Id: ENST00000491149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,302,030 - 184,303,685 (+)Ensembl
RefSeq Acc Id: ENST00000491494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,307,922 - 184,308,724 (+)Ensembl
RefSeq Acc Id: ENST00000492191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,299,251 - 184,300,652 (+)Ensembl
RefSeq Acc Id: ENST00000496925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3184,305,861 - 184,307,677 (+)Ensembl
RefSeq Acc Id: NM_001278708   ⟹   NP_001265637
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,300,581 - 184,309,050 (+)NCBI
HuRef3181,423,849 - 181,433,806 (+)NCBI
CHM1_13183,982,826 - 183,991,300 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278709   ⟹   NP_001265638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,300,581 - 184,309,050 (+)NCBI
GRCh373184,016,886 - 184,026,842 (+)NCBI
HuRef3181,423,849 - 181,433,806 (+)NCBI
CHM1_13183,982,826 - 183,991,300 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002808   ⟹   NP_002799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,299,241 - 184,309,050 (+)NCBI
GRCh373184,016,886 - 184,026,842 (+)NCBI
Build 363185,499,716 - 185,509,534 (+)NCBI Archive
HuRef3181,423,849 - 181,433,806 (+)NCBI
CHM1_13183,981,343 - 183,991,300 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002799   ⟸   NM_002808
- Peptide Label: isoform 1
- UniProtKB: Q13200 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265637   ⟸   NM_001278708
- Peptide Label: isoform 2
- UniProtKB: Q13200 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265638   ⟸   NM_001278709
- Peptide Label: isoform 3
- UniProtKB: Q13200 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000416028   ⟸   ENST00000439383
RefSeq Acc Id: ENSP00000310129   ⟸   ENST00000310118
RefSeq Acc Id: ENSP00000414061   ⟸   ENST00000417952
RefSeq Acc Id: ENSP00000407259   ⟸   ENST00000445558
RefSeq Acc Id: ENSP00000400330   ⟸   ENST00000432855
RefSeq Acc Id: ENSP00000411494   ⟸   ENST00000433010
RefSeq Acc Id: ENSP00000402618   ⟸   ENST00000435761
Protein Domains
RPN1_RPN2_N

Promoters
RGD ID:6866460
Promoter ID:EPDNEW_H6395
Type:initiation region
Name:PSMD2_1
Description:proteasome 26S subunit, non-ATPase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,299,254 - 184,299,314EPDNEW
RGD ID:6801478
Promoter ID:HG_KWN:46962
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345843,   OTTHUMT00000345846,   OTTHUMT00000345847,   OTTHUMT00000345848,   OTTHUMT00000345849,   OTTHUMT00000345850,   OTTHUMT00000345851,   OTTHUMT00000345852
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,499,386 - 185,500,077 (+)MPROMDB
RGD ID:6801479
Promoter ID:HG_KWN:46963
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000345844,   OTTHUMT00000345845,   OTTHUMT00000345853
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,500,276 - 185,500,776 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3 copy number gain See cases [RCV000051737] Chr3:184200139..184656801 [GRCh38]
Chr3:183917927..184374589 [GRCh37]
Chr3:185400621..185857283 [NCBI36]
Chr3:3q27.1
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1 copy number loss See cases [RCV000054002] Chr3:184239109..184391437 [GRCh38]
Chr3:183956897..184109225 [GRCh37]
Chr3:185439591..185591919 [NCBI36]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3 copy number gain See cases [RCV000136872] Chr3:184242321..184389832 [GRCh38]
Chr3:183960109..184107620 [GRCh37]
Chr3:185442803..185590314 [NCBI36]
Chr3:3q27.1
benign
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 copy number gain See cases [RCV000137910] Chr3:183816693..184365094 [GRCh38]
Chr3:183534481..184082882 [GRCh37]
Chr3:185017175..185565576 [NCBI36]
Chr3:3q27.1
uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2
likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3
likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 copy number loss See cases [RCV000143297] Chr3:183521497..184472038 [GRCh38]
Chr3:183239285..184189826 [GRCh37]
Chr3:184721979..185672520 [NCBI36]
Chr3:3q27.1
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
Single allele duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2
likely pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
NM_002808.5(PSMD2):c.29C>T (p.Pro10Leu) single nucleotide variant Esophageal atresia [RCV000984672] Chr3:184299295 [GRCh38]
Chr3:184017083 [GRCh37]
Chr3:3q27.1
uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1 copy number loss not provided [RCV001005495] Chr3:183789584..186034649 [GRCh37]
Chr3:3q27.1-27.3
likely pathogenic
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2
pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9559 AgrOrtholog
COSMIC PSMD2 COSMIC
Ensembl Genes ENSG00000175166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000310129 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400330 UniProtKB/TrEMBL
  ENSP00000402618 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407259 UniProtKB/TrEMBL
  ENSP00000411494 UniProtKB/TrEMBL
  ENSP00000414061 UniProtKB/TrEMBL
  ENSP00000416028 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310118 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417952 UniProtKB/TrEMBL
  ENST00000432855 UniProtKB/TrEMBL
  ENST00000433010 UniProtKB/TrEMBL
  ENST00000435761 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000439383 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000445558 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175166 GTEx
HGNC ID HGNC:9559 ENTREZGENE
Human Proteome Map PSMD2 Human Proteome Map
InterPro 26S_Psome_Rpn1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proteasome/cyclosome_rpt UniProtKB/Swiss-Prot
  RPN1_C UniProtKB/Swiss-Prot
  RPN1_RPN2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5708 UniProtKB/Swiss-Prot
NCBI Gene 5708 ENTREZGENE
OMIM 606223 OMIM
PANTHER PTHR10943:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PC_rep UniProtKB/Swiss-Prot
  RPN1_C UniProtKB/Swiss-Prot
  RPN1_RPN2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33905 PharmGKB
PIRSF 26S_Psome_Rpn1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JPC0_HUMAN UniProtKB/TrEMBL
  F8WBS8_HUMAN UniProtKB/TrEMBL
  H7C1H2_HUMAN UniProtKB/TrEMBL
  H7C2Q3_HUMAN UniProtKB/TrEMBL
  PSMD2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DX07 UniProtKB/Swiss-Prot
  B4DXY1 UniProtKB/Swiss-Prot
  E7EW34 UniProtKB/Swiss-Prot
  E9PCS3 UniProtKB/Swiss-Prot
  Q12932 UniProtKB/Swiss-Prot
  Q15321 UniProtKB/Swiss-Prot
  Q53XQ4 UniProtKB/Swiss-Prot
  Q96I12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-01 PSMD2  proteasome 26S subunit ubiquitin receptor, non-ATPase 2  PSMD2  proteasome 26S subunit, non-ATPase 2  Symbol and/or name change 19259463 PROVISIONAL
2015-08-18 PSMD2  proteasome 26S subunit, non-ATPase 2    proteasome (prosome, macropain) 26S subunit, non-ATPase, 2  Symbol and/or name change 5135510 APPROVED