PDCD1 (programmed cell death 1) - Rat Genome Database

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Gene: PDCD1 (programmed cell death 1) Homo sapiens
Analyze
Symbol: PDCD1
Name: programmed cell death 1
RGD ID: 1323231
HGNC Page HGNC
Description: Involved in positive regulation of T cell apoptotic process. Predicted to localize to external side of plasma membrane. Implicated in autoimmune disease (multiple); hepatitis B; hepatitis C; hepatocellular carcinoma; and lupus nephritis. Biomarker of several diseases, including cervix disease (multiple); hepatitis A; hepatitis B; pulmonary tuberculosis; and respiratory syncytial virus infectious disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD279; hPD-1; hPD-l; hSLE1; PD-1; PD1; programmed cell death protein 1; SLEB2; systemic lupus erythematosus susceptibility 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
GRCh38.p13 Ensembl2241,849,884 - 241,858,894 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,849,881 - 241,858,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,792,036 - 242,801,046 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,440,711 - 242,449,731 (-)NCBINCBI36hg18NCBI36
Celera2236,456,683 - 236,465,707 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,541,510 - 234,550,535 (-)NCBIHuRef
CHM1_12242,797,131 - 242,806,156 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (ISO)
acute myocarditis  (ISO)
anogenital venereal wart  (IEP)
anti-basement membrane glomerulonephritis  (ISO)
asthma  (ISO)
autoimmune hepatitis  (IDA,ISO)
Burns  (ISO)
cervix uteri carcinoma in situ  (IEP)
Chlamydia pneumonia  (ISO)
Chronic Hepatitis B  (IAGP,IEP)
Colonic Neoplasms  (ISO)
Colorectal Neoplasms  (ISO)
cryptococcal meningitis  (IEP,ISO)
cystitis  (ISO)
Cytomegalovirus Infections  (IAGP)
dilated cardiomyopathy  (ISO,ISS)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Melanoma  (ISO)
Fungemia  (ISO)
Graves' disease  (EXP)
Helicobacter Infections  (IEP)
Hepatic Echinococcosis  (ISO)
hepatitis  (IEP)
hepatitis A  (IEP)
hepatitis B  (IAGP,IDA,IEP)
hepatitis C  (IAGP)
hepatocellular carcinoma  (IAGP,IEP)
histoplasmosis  (ISO)
human immunodeficiency virus infectious disease  (IEP)
hydronephrosis  (ISO)
intellectual disability  (IAGP)
lupus nephritis  (IAGP,ISO)
lymphocytic choriomeningitis  (ISO)
melanoma  (EXP,ISO)
multiple sclerosis  (EXP,IAGP)
myocarditis  (ISO)
periodontitis  (ISO)
Pneumovirus Infections  (ISO)
pre-eclampsia  (IEP,ISO)
pulmonary tuberculosis  (IEP)
Recurrent Respiratory Papillomatosis  (IEP)
renal cell carcinoma  (IEP)
respiratory syncytial virus infectious disease  (IEP,ISO)
Schistosomiasis Japonica  (IEP,ISO)
Sepsis  (IEP,ISO)
Spinal Cord Injuries  (ISO)
stomach cancer  (IEP)
Streptococcus pneumonia  (ISO)
systemic lupus erythematosus  (EXP,IAGP,IDA)
toxic shock syndrome  (IEP)
Transplant Rejection  (IEP,ISO)
triple-receptor negative breast cancer  (ISO)
tuberculosis  (IEP)
type 2 diabetes mellitus  (ISO)
Viral Bronchiolitis  (ISO)
viral encephalitis  (ISO)

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

Human Phenotype
References

References - curated
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Additional References at PubMed
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PMID:26928313   PMID:26933175   PMID:26941095   PMID:26945563   PMID:26980049   PMID:27050970   PMID:27059553   PMID:27070448   PMID:27077771   PMID:27083005   PMID:27096305   PMID:27120796  
PMID:27147575   PMID:27165272   PMID:27166394   PMID:27191652   PMID:27217541   PMID:27227944   PMID:27249733   PMID:27249753   PMID:27249767   PMID:27281199   PMID:27286421   PMID:27288425  
PMID:27321759   PMID:27354476   PMID:27354668   PMID:27372564   PMID:27377178   PMID:27421997   PMID:27429197   PMID:27443512   PMID:27453418   PMID:27454297   PMID:27459386   PMID:27470968  
PMID:27474072   PMID:27479178   PMID:27502709   PMID:27534574   PMID:27540850   PMID:27552968   PMID:27564547   PMID:27565576   PMID:27565906   PMID:27580218   PMID:27604386   PMID:27609582  
PMID:27610620   PMID:27618663   PMID:27655434   PMID:27662664   PMID:27665733   PMID:27667465   PMID:27671246   PMID:27683557   PMID:27686004   PMID:27696122   PMID:27696202   PMID:27696517  
PMID:27709793   PMID:27721577   PMID:27746267   PMID:27749524   PMID:27751353   PMID:27807100   PMID:27816392   PMID:27816393   PMID:27835962   PMID:27836206   PMID:27837027   PMID:27867002  
PMID:27868138   PMID:27881581   PMID:27891189   PMID:27909722   PMID:27914594   PMID:27916101   PMID:27921410   PMID:27922697   PMID:27924827   PMID:27943063   PMID:27978870   PMID:27986748  
PMID:27998967   PMID:28000240   PMID:28026044   PMID:28030840   PMID:28031007   PMID:28031121   PMID:28035137   PMID:28039262   PMID:28046066   PMID:28056736   PMID:28062906   PMID:28073845  
PMID:28105368   PMID:28105370   PMID:28110884   PMID:28115578   PMID:28122135   PMID:28153603   PMID:28165004   PMID:28167507   PMID:28169347   PMID:28190256   PMID:28193624   PMID:28193626  
PMID:28201746   PMID:28223273   PMID:28238417   PMID:28251903   PMID:28265006   PMID:28270509   PMID:28275222   PMID:28281549   PMID:28284331   PMID:28284988   PMID:28324060   PMID:28327740  
PMID:28344809   PMID:28346916   PMID:28349816   PMID:28351328   PMID:28380458   PMID:28388955   PMID:28403071   PMID:28408386   PMID:28410988   PMID:28415570   PMID:28415798   PMID:28419181  
PMID:28423034   PMID:28432616   PMID:28440484   PMID:28460462   PMID:28461179   PMID:28468799   PMID:28475007   PMID:28480996   PMID:28487496   PMID:28487502   PMID:28488141   PMID:28488345  
PMID:28490441   PMID:28497847   PMID:28503213   PMID:28504999   PMID:28512174   PMID:28514441   PMID:28514442   PMID:28535114   PMID:28545019   PMID:28546465   PMID:28561682   PMID:28572054  
PMID:28619999   PMID:28629373   PMID:28634215   PMID:28637876   PMID:28643044   PMID:28648940   PMID:28681455   PMID:28692048   PMID:28716595   PMID:28739701   PMID:28754154   PMID:28760910  
PMID:28762530   PMID:28767147   PMID:28798308   PMID:28799073   PMID:28799818   PMID:28807336   PMID:28821192   PMID:28835386   PMID:28846771   PMID:28849209   PMID:28877189   PMID:28888058  
PMID:28890543   PMID:28904066   PMID:28916523   PMID:28947422   PMID:28974264   PMID:29037958   PMID:29045526   PMID:29051270   PMID:29068155   PMID:29090522   PMID:29112182   PMID:29143824  
PMID:29146617   PMID:29167005   PMID:29193094   PMID:29197680   PMID:29220578   PMID:29257239   PMID:29270668   PMID:29277762   PMID:29293620   PMID:29304116   PMID:29307156   PMID:29335088  
PMID:29356308   PMID:29359792   PMID:29362132   PMID:29366663   PMID:29378725   PMID:29396294   PMID:29415126   PMID:29428449   PMID:29440293   PMID:29445891   PMID:29449276   PMID:29472716  
PMID:29489833   PMID:29509940   PMID:29546435   PMID:29580042   PMID:29599324   PMID:29620156   PMID:29652996   PMID:29679656   PMID:29695766   PMID:29695768   PMID:29702286   PMID:29717423  
PMID:29742291   PMID:29746296   PMID:29748183   PMID:29762141   PMID:29774466   PMID:29790686   PMID:29843813   PMID:29844001   PMID:29848685   PMID:29874664   PMID:29890018   PMID:29960819  
PMID:29962321   PMID:29973653   PMID:29973670   PMID:29976671   PMID:29991678   PMID:29996881   PMID:30007816   PMID:30019128   PMID:30026337   PMID:30031096   PMID:30055200   PMID:30064894  
PMID:30076177   PMID:30084841   PMID:30085937   PMID:30089911   PMID:30146693   PMID:30178256   PMID:30194079   PMID:30196822   PMID:30198907   PMID:30201974   PMID:30203407   PMID:30205088  
PMID:30217730   PMID:30233588   PMID:30249505   PMID:30257954   PMID:30279232   PMID:30282672   PMID:30292745   PMID:30307035   PMID:30308543   PMID:30325236   PMID:30327458   PMID:30356330  
PMID:30357521   PMID:30373357   PMID:30375891   PMID:30377341   PMID:30389315   PMID:30399174   PMID:30400941   PMID:30420753   PMID:30466764   PMID:30487606   PMID:30498094   PMID:30519815  
PMID:30539869   PMID:30540488   PMID:30541848   PMID:30546030   PMID:30555473   PMID:30555574   PMID:30578715   PMID:30591493   PMID:30618263   PMID:30624548   PMID:30629187   PMID:30637917  
PMID:30644695   PMID:30655556   PMID:30669748   PMID:30679687   PMID:30682108   PMID:30728081   PMID:30737486   PMID:30755717   PMID:30771277   PMID:30790015   PMID:30803202   PMID:30808044  
PMID:30810221   PMID:30816272   PMID:30822360   PMID:30824609   PMID:30851544   PMID:30851633   PMID:30853363   PMID:30857561   PMID:30861172   PMID:30893264   PMID:30918149   PMID:30939292  
PMID:30942469   PMID:30955284   PMID:30962161   PMID:30967647   PMID:30976104   PMID:30979616   PMID:30992011   PMID:31002007   PMID:31003463   PMID:31008114   PMID:31022273   PMID:31046170  
PMID:31053602   PMID:31074244   PMID:31138162   PMID:31151482   PMID:31167787   PMID:31176611   PMID:31210370   PMID:31233838   PMID:31269329   PMID:31277964   PMID:31292525   PMID:31293069  
PMID:31300681   PMID:31311367   PMID:31343994   PMID:31363009   PMID:31366557   PMID:31367249   PMID:31375512   PMID:31375756   PMID:31394407   PMID:31441370   PMID:31464942   PMID:31471333  
PMID:31484656   PMID:31520078   PMID:31537249   PMID:31546905   PMID:31551030   PMID:31562329   PMID:31565862   PMID:31585483   PMID:31591439   PMID:31595795   PMID:31608729   PMID:31618754  
PMID:31620907   PMID:31646820   PMID:31648479   PMID:31678168   PMID:31697809   PMID:31717574   PMID:31718573   PMID:31727844   PMID:31739121   PMID:31755433   PMID:31762332   PMID:31794865  
PMID:31802034   PMID:31811434   PMID:31829518   PMID:31838881   PMID:31841754   PMID:31867666   PMID:31907195   PMID:31926212   PMID:31926851   PMID:31949130   PMID:31950058   PMID:31959763  
PMID:31960962   PMID:31970790   PMID:31985048   PMID:31992245   PMID:32009163   PMID:32030768   PMID:32048861   PMID:32064351   PMID:32065479   PMID:32084010   PMID:32084380   PMID:32103760  
PMID:32105362   PMID:32113187   PMID:32131763   PMID:32134744   PMID:32143684   PMID:32163016   PMID:32202617   PMID:32203213   PMID:32203221   PMID:32206951   PMID:32221038   PMID:32222780  
PMID:32265932   PMID:32350076   PMID:32350591   PMID:32350592   PMID:32356560   PMID:32393998   PMID:32437509   PMID:32449229   PMID:32459892   PMID:32460355   PMID:32463489   PMID:32509862  
PMID:32510574   PMID:32529260   PMID:32546692   PMID:32554931   PMID:32557663   PMID:32567084   PMID:32582176   PMID:32584200   PMID:32596285   PMID:32615319   PMID:32616706   PMID:32656742  
PMID:32778730   PMID:32839551   PMID:32854477   PMID:32855204   PMID:32860814   PMID:32890458   PMID:32977151   PMID:32978821   PMID:32987482   PMID:33045663   PMID:33069926   PMID:33072070  
PMID:33084148   PMID:33121190   PMID:33132244   PMID:33137405   PMID:33154356   PMID:33232723   PMID:33301655   PMID:33324391   PMID:33328484   PMID:33358116   PMID:33386384   PMID:33389528  
PMID:33436123   PMID:33476333   PMID:33508291   PMID:33521133   PMID:33547304   PMID:33584637   PMID:33606996   PMID:33760188   PMID:33793112   PMID:33832149  


Genomics

Comparative Map Data
PDCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,849,884 - 241,858,894 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,849,881 - 241,858,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,792,036 - 242,801,046 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,440,711 - 242,449,731 (-)NCBINCBI36hg18NCBI36
Celera2236,456,683 - 236,465,707 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2234,541,510 - 234,550,535 (-)NCBIHuRef
CHM1_12242,797,131 - 242,806,156 (-)NCBICHM1_1
Pdcd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,966,027 - 93,980,278 (-)NCBIGRCm39mm39
GRCm39 Ensembl193,966,027 - 93,980,278 (-)Ensembl
GRCm38194,038,305 - 94,052,553 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,038,305 - 94,052,553 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,934,882 - 95,949,130 (-)NCBIGRCm37mm9NCBIm37
MGSCv36195,868,711 - 95,882,959 (-)NCBImm8
Celera196,903,284 - 96,917,529 (-)NCBICelera
Cytogenetic Map1DNCBI
Pdcd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2994,418,786 - 94,431,945 (-)NCBI
Rnor_6.0 Ensembl9101,025,313 - 101,038,625 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl9101,307,764 - 101,319,845 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.09101,305,742 - 101,319,937 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.09100,676,274 - 100,690,991 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4993,172,543 - 93,185,687 (-)NCBIRGSC3.4rn4RGSC3.4
Celera991,952,891 - 91,966,035 (-)NCBICelera
Cytogenetic Map9q36NCBI
Pdcd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495554249,259 - 58,823 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495554249,290 - 57,747 (+)NCBIChiLan1.0ChiLan1.0
PDCD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v02B129,111,509 - 129,121,127 (-)NCBIMhudiblu_PPA_v0panPan3
PDCD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,606,559 - 51,618,903 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,608,173 - 51,618,723 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,830,362 - 51,840,346 (-)NCBI
ROS_Cfam_1.02551,809,256 - 51,820,132 (-)NCBI
UMICH_Zoey_3.12551,659,966 - 51,669,894 (-)NCBI
UNSW_CanFamBas_1.02551,399,146 - 51,409,148 (-)NCBI
UU_Cfam_GSD_1.02551,676,302 - 51,686,322 (-)NCBI
Pdcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303193,055,706 - 193,066,914 (-)NCBI
SpeTri2.0NW_004936745152,571 - 163,712 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDCD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15140,336,210 - 140,347,478 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115140,337,353 - 140,347,493 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PDCD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,877,383 - 127,886,234 (-)NCBI
ChlSab1.1 Ensembl10127,878,554 - 127,886,088 (-)Ensembl
Vero_WHO_p1.0NW_02366604071,433,325 - 71,442,153 (+)NCBI
Pdcd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248475,732,922 - 5,741,908 (-)NCBI

Position Markers
RH71365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,793,309 - 242,793,434UniSTSGRCh37
Build 362242,441,982 - 242,442,107RGDNCBI36
Celera2236,457,959 - 236,458,084RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,542,786 - 234,542,911UniSTS
GeneMap99-GB4 RH Map2747.4UniSTS
NCBI RH Map21915.5UniSTS
PDCD1_1679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,792,035 - 242,792,660UniSTSGRCh37
Build 362242,440,708 - 242,441,333RGDNCBI36
Celera2236,456,685 - 236,457,310RGD
HuRef2234,541,512 - 234,542,137UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1675
Count of miRNA genes:713
Interacting mature miRNAs:834
Transcripts:ENST00000334409, ENST00000343705, ENST00000418831
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.


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 63 214 58 11 673 11 9 13 6 10 21 66 1 2
Low 1410 1810 1203 337 1075 194 1983 730 1243 215 788 1315 143 1061 968 2
Below cutoff 882 913 439 259 118 241 2105 1287 2105 147 574 88 23 141 1640 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC131097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF363458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI928135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY206416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY238517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY322430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR988122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH957981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ865859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ865860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ865861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY088065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L27440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U64863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U64864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000334409   ⟹   ENSP00000335062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,849,884 - 241,858,894 (-)Ensembl
RefSeq Acc Id: ENST00000343705   ⟹   ENSP00000340808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,851,233 - 241,852,886 (-)Ensembl
RefSeq Acc Id: ENST00000418831   ⟹   ENSP00000390296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,850,697 - 241,858,865 (-)Ensembl
RefSeq Acc Id: NM_005018   ⟹   NP_005009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,849,884 - 241,858,894 (-)NCBI
GRCh372242,792,033 - 242,801,058 (-)ENTREZGENE
Build 362242,440,711 - 242,449,731 (-)NCBI Archive
HuRef2234,541,510 - 234,550,535 (-)ENTREZGENE
CHM1_12242,797,131 - 242,806,156 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712573   ⟹   XP_006712636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,851,990 - 241,858,908 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004293   ⟹   XP_016859782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,849,881 - 241,858,908 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005009   ⟸   NM_005018
- Peptide Label: precursor
- UniProtKB: Q15116 (UniProtKB/Swiss-Prot),   A0A0M3M0G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712636   ⟸   XM_006712573
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859782   ⟸   XM_017004293
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000335062   ⟸   ENST00000334409
RefSeq Acc Id: ENSP00000390296   ⟸   ENST00000418831
RefSeq Acc Id: ENSP00000340808   ⟸   ENST00000343705
Protein Domains
Ig-like   Ig-like V-type   IGv

Promoters
RGD ID:6863392
Promoter ID:EPDNEW_H4861
Type:multiple initiation site
Name:PDCD1_1
Description:programmed cell death 1
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
GRCh382241,858,889 - 241,858,949EPDNEW
RGD ID:6797926
Promoter ID:HG_KWN:38263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010FZS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,443,391 - 242,444,722 (-)MPROMDB
RGD ID:6797927
Promoter ID:HG_KWN:38264
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000343705,   OTTHUMT00000322313,   UC010FZT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,449,576 - 242,450,682 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005018.3(PDCD1):c.627+189G>C single nucleotide variant Multiple sclerosis modifier of disease progression [RCV000009833]|Systemic lupus erythematosus, association wit 2 [RCV000009832] Chr2:241851760 [GRCh38]
Chr2:242793912 [GRCh37]
Chr2:2q37.3		 pathogenic|risk factor
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1 copy number loss See cases [RCV000050955] Chr2:241582713..242065208 [GRCh38]
Chr2:242522128..243007359 [GRCh37]
Chr2:242170801..242656032 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] Chr2:241179464..242065349 [GRCh38]
Chr2:242118879..243007500 [GRCh37]
Chr2:241767552..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 copy number loss See cases [RCV000052706] Chr2:241249295..242086301 [GRCh38]
Chr2:242188710..243028452 [GRCh37]
Chr2:241837383..242677125 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] Chr2:241179664..242065208 [GRCh38]
Chr2:242119079..243007359 [GRCh37]
Chr2:241767752..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 copy number gain See cases [RCV000133843] Chr2:241522479..242126245 [GRCh38]
Chr2:242461894..243059659 [GRCh37]
Chr2:242110567..242717069 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1 copy number loss See cases [RCV000133758] Chr2:241770998..241996090 [GRCh38]
Chr2:242710413..242938241 [GRCh37]
Chr2:242359086..242586914 [NCBI36]
Chr2:2q37.3		 benign
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 copy number loss See cases [RCV000134170] Chr2:241481406..242126245 [GRCh38]
Chr2:242420821..243059659 [GRCh37]
Chr2:242069494..242717069 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:241856400-242027723)x1 copy number loss See cases [RCV000139408] Chr2:241856400..242027723 [GRCh38]
Chr2:242798552..242969874 [GRCh37]
Chr2:242447225..242618547 [NCBI36]
Chr2:2q37.3		 benign
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3		 likely pathogenic
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 copy number loss See cases [RCV000141625] Chr2:241565848..242110155 [GRCh38]
Chr2:242505263..243052306 [GRCh37]
Chr2:242153936..242700979 [NCBI36]
Chr2:2q37.3		 uncertain significance
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:242766297-242886445)x3 copy number gain not provided [RCV000762788] Chr2:242766297..242886445 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 copy number loss See cases [RCV000448540] Chr2:242045569..243040217 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 copy number loss not provided [RCV000741039] Chr2:241847589..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:242560241-242838636)x3 copy number gain not provided [RCV000741052] Chr2:242560241..242838636 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.3(chr2:242654211-243048760)x3 copy number gain not provided [RCV000741054] Chr2:242654211..243048760 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_005018.3(PDCD1):c.76+10G>A single nucleotide variant not provided [RCV000973324] Chr2:241858753 [GRCh38]
Chr2:242800905 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 copy number loss not provided [RCV001005388] Chr2:242011633..243199373 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8760 AgrOrtholog
COSMIC PDCD1 COSMIC
Ensembl Genes ENSG00000188389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276977 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335062 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340808 UniProtKB/TrEMBL
  ENSP00000390296 UniProtKB/TrEMBL
  ENSP00000480684 UniProtKB/Swiss-Prot
  ENSP00000486779 UniProtKB/TrEMBL
  ENSP00000487175 UniProtKB/TrEMBL
Ensembl Transcript ENST00000334409 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000343705 UniProtKB/TrEMBL
  ENST00000418831 UniProtKB/TrEMBL
  ENST00000618185 UniProtKB/Swiss-Prot
  ENST00000630230 UniProtKB/TrEMBL
  ENST00000630560 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188389 GTEx
  ENSG00000276977 GTEx
HGNC ID HGNC:8760 ENTREZGENE
Human Proteome Map PDCD1 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDCD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5133 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5133 ENTREZGENE
OMIM 126200 OMIM
  600244 OMIM
  605218 OMIM
PANTHER PTHR15264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33110 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0M3M0G7 ENTREZGENE, UniProtKB/TrEMBL
  E7ER21_HUMAN UniProtKB/TrEMBL
  H0Y2W6_HUMAN UniProtKB/TrEMBL
  PDCD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary O00517 UniProtKB/Swiss-Prot
  Q8IX89 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PDCD1  programmed cell death 1  SLEB2  systemic lupus erythematosus susceptibility 2  Data Merged 737654 PROVISIONAL
2012-03-01 PDCD1  programmed cell death 1  PDCD1  programmed cell death 1  Symbol and/or name change 5135510 APPROVED