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:8760
Description: Involved in positive regulation of T cell apoptotic process. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. Implicated in autoimmune disease (multiple); hepatitis B; hepatitis C; hepatocellular carcinoma; and lupus nephritis. Biomarker of several diseases, including Cryptococcal meningitis; anogenital venereal wart; cervix uteri carcinoma in situ; liver disease (multiple); and tuberculosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh382241,849,884 - 241,858,894 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2241,849,884 - 241,858,894 (-)EnsemblGRCh38hg38GRCh38
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
T2T-CHM13v2.02242,351,431 - 242,360,440 (-)NCBI
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)
chromosome 2q37 deletion syndrome  (IAGP)
Chronic Hepatitis B  (IAGP,IEP)
Colonic Neoplasms  (ISO)
Colorectal Neoplasms  (ISO)
cryptococcal meningitis  (IEP,ISO)
cystitis  (ISO)
Cytomegalovirus Infections  (IAGP)
D-2-hydroxyglutaric aciduria 1  (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)
hereditary spastic paraplegia 30  (IAGP)
histoplasmosis  (ISO)
human immunodeficiency virus infectious disease  (IEP)
hydronephrosis  (ISO)
intellectual disability  (IAGP)
Lung Neoplasms  (EXP)
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
# Reference Title Reference Citation
1. Roles of programmed death-1 (PD-1)/PD-1 ligands pathway in the development of murine acute myocarditis caused by coxsackievirus B3. null
2. Endoplasmic reticulum stress response and inflammatory cytokines in type 2 diabetic nephropathy: role of indoleamine 2,3-dioxygenase and programmed death-1. Baban B, etal., Exp Mol Pathol. 2013 Apr;94(2):343-51. doi: 10.1016/j.yexmp.2012.11.004. Epub 2012 Dec 5.
3. Genetic, immunologic, and immunohistochemical analysis of the programmed death 1/programmed death ligand 1 pathway in human systemic lupus erythematosus. Bertsias GK, etal., Arthritis Rheum. 2009 Jan;60(1):207-18. doi: 10.1002/art.24227.
4. Expression of programmed death 1 and its ligands in the liver of autoimmune hepatitis C57BL/6 mice. Cao J, etal., Chin Med J (Engl). 2009 Aug 20;122(16):1941-6.
5. Blockade of the negative co-stimulatory molecules PD-1 and CTLA-4 improves survival in primary and secondary fungal sepsis. Chang KC, etal., Crit Care. 2013 May 11;17(3):R85. doi: 10.1186/cc12711.
6. In vitro and in vivo effect of PD-1/PD-L1 blockade on microglia/macrophage activation and T cell subset balance in cryptococcal meningitis. Che YM, etal., J Cell Biochem. 2018 Apr;119(4):3044-3057. doi: 10.1002/jcb.26432. Epub 2017 Dec 26.
7. Programmed cell death-1 3'-untranslated region polymorphism is associated with spontaneous clearance of hepatitis B virus infection. Chihab H, etal., J Med Virol. 2018 Nov;90(11):1730-1738. doi: 10.1002/jmv.25265. Epub 2018 Aug 13.
8. Phenotypic Characteristics of PD-1 and CTLA-4 Expression in Symptomatic Acute Hepatitis A. Cho H, etal., Gut Liver. 2016 Mar;10(2):288-94. doi: 10.5009/gnl14368.
9. CD72/CD100 and PD-1/PD-L1 markers are increased on T and B cells in HIV-1+ viremic individuals, and CD72/CD100 axis is correlated with T-cell exhaustion. Correa-Rocha R, etal., PLoS One. 2018 Aug 30;13(8):e0203419. doi: 10.1371/journal.pone.0203419. eCollection 2018.
10. Gene transfer of programmed death ligand-1.Ig prolongs cardiac allograft survival. Dudler J, etal., Transplantation. 2006 Dec 27;82(12):1733-7.
11. Viral acute lower respiratory infections impair CD8+ T cells through PD-1. Erickson JJ, etal., J Clin Invest. 2012 Aug;122(8):2967-82. doi: 10.1172/JCI62860. Epub 2012 Jul 17.
12. Programmed death-1 impairs secondary effector lung CD8⁺ T cells during respiratory virus reinfection. Erickson JJ, etal., J Immunol. 2014 Nov 15;193(10):5108-17. doi: 10.4049/jimmunol.1302208. Epub 2014 Oct 22.
13. Programmed death 1 protects from fatal circulatory failure during systemic virus infection of mice. Frebel H, etal., J Exp Med. 2012 Dec 17;209(13):2485-99. doi: 10.1084/jem.20121015. Epub 2012 Dec 10.
14. Therapy With Carboplatin and Anti-PD-1 Antibodies Before Surgery Demonstrates Sustainable Anti-Tumor Effects for Secondary Cancers in Mice With Triple-Negative Breast Cancer. Gao M, etal., Front Immunol. 2020 Mar 5;11:366. doi: 10.3389/fimmu.2020.00366. eCollection 2020.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. Regulation of Trypanosoma cruzi-induced myocarditis by programmed death cell receptor 1. Gutierrez FR, etal., Infect Immun. 2011 May;79(5):1873-81. doi: 10.1128/IAI.01047-10. Epub 2011 Feb 28.
17. Immune suppression in premalignant respiratory papillomas: enriched functional CD4+Foxp3+ regulatory T cells and PD-1/PD-L1/L2 expression. Hatam LJ, etal., Clin Cancer Res. 2012 Apr 1;18(7):1925-35. doi: 10.1158/1078-0432.CCR-11-2941. Epub 2012 Feb 9.
18. Dexmedetomidine Mitigates Microglia-Mediated Neuroinflammation through Upregulation of Programmed Cell Death Protein 1 in a Rat Spinal Cord Injury Model. He H, etal., J Neurotrauma. 2018 Nov 1;35(21):2591-2603. doi: 10.1089/neu.2017.5625. Epub 2018 Jun 7.
19. Association between a polymorphism in the human programmed death-1 (PD-1) gene and cytomegalovirus infection after kidney transplantation. Hoffmann TW, etal., J Med Genet. 2010 Jan;47(1):54-8. doi: 10.1136/jmg.2009.068841. Epub 2009 Jul 5.
20. A Programmed Cell Death-1 Haplotype is Associated with Clearance of Hepatitis B Virus. Hou Z, etal., Ann Clin Lab Sci. 2017 May;47(3):334-343.
21. PD-1 expression by macrophages plays a pathologic role in altering microbial clearance and the innate inflammatory response to sepsis. Huang X, etal., Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6303-8. doi: 10.1073/pnas.0809422106. Epub 2009 Mar 30.
22. Prognostic Significance of PD-1, PD-L1 and CD8 Gene Expression Levels in Gastric Cancer. Ito S, etal., Oncology. 2020;98(7):501-511. doi: 10.1159/000506075. Epub 2020 May 7.
23. Correlation of CpG methylation of the Pdcd1 gene with PD-1 expression on CD8+ T cells and medical laboratory indicators in chronic hepatitis B infection. Jiao L, etal., J Gene Med. 2020 Feb;22(2):e3148. doi: 10.1002/jgm.3148. Epub 2020 Jan 9.
24. Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus. Johansson M, etal., Arthritis Rheum. 2005 Jun;52(6):1665-9.
25. Chronically inflamed livers up-regulate expression of inhibitory B7 family members. Kassel R, etal., Hepatology. 2009 Nov;50(5):1625-37. doi: 10.1002/hep.23173.
26. Non-oncogenic Acute Viral Infections Disrupt Anti-cancer Responses and Lead to Accelerated Cancer-Specific Host Death. Kohlhapp FJ, etal., Cell Rep. 2016 Oct 18;17(4):957-965. doi: 10.1016/j.celrep.2016.09.068.
27. Upregulation of PD-1 on CD4⁺CD25⁺ T cells is associated with immunosuppression in liver of mice infected with Echinococcus multilocularis. La X, etal., Int Immunopharmacol. 2015 Jun;26(2):357-66. doi: 10.1016/j.intimp.2015.04.013. Epub 2015 Apr 20.
28. Anti-programmed death-1 synergizes with granulocyte macrophage colony-stimulating factor--secreting tumor cell immunotherapy providing therapeutic benefit to mice with established tumors. Li B, etal., Clin Cancer Res. 2009 Mar 1;15(5):1623-34. doi: 10.1158/1078-0432.CCR-08-1825. Epub 2009 Feb 10.
29. Genetic polymorphisms of immune checkpoint proteins PD-1 and TIM-3 are associated with survival of patients with hepatitis B virus-related hepatocellular carcinoma. Li Z, etal., Oncotarget. 2016 May 3;7(18):26168-80. doi: 10.18632/oncotarget.8435.
30. Genetic variations in LTA gene and PDCD1 gene and intrauterine infection of hepatitis B virus: a case-control study in China. Liu T, etal., Amino Acids. 2018 Jul;50(7):877-883. doi: 10.1007/s00726-018-2568-9. Epub 2018 May 21.
31. The PD-1/PD-L costimulatory pathway critically affects host resistance to the pathogenic fungus Histoplasma capsulatum. Lázár-Molnár E, etal., Proc Natl Acad Sci U S A. 2008 Feb 19;105(7):2658-63. doi: 10.1073/pnas.0711918105. Epub 2008 Feb 11.
32. Programmed Death-Ligand 1 Expression Is Common in Gastric Cancer Associated With Epstein-Barr Virus or Microsatellite Instability. Ma C, etal., Am J Surg Pathol. 2016 Nov;40(11):1496-1506. doi: 10.1097/PAS.0000000000000698.
33. Blockade of the PD-1/PD-1L pathway reverses the protective effect of anti-CD40L therapy in a rat to mouse concordant islet xenotransplantation model. Mai G, etal., Xenotransplantation. 2007 May;14(3):243-8.
34. Anti-programmed cell death-1 antibody as a new serological marker for type 1 autoimmune hepatitis. Matsumoto K, etal., J Gastroenterol Hepatol. 2014 Jan;29(1):110-5. doi: 10.1111/jgh.12340.
35. PD-1 suppresses protective immunity to Streptococcus pneumoniae through a B cell-intrinsic mechanism. McKay JT, etal., J Immunol. 2015 Mar 1;194(5):2289-99. doi: 10.4049/jimmunol.1401673. Epub 2015 Jan 26.
36. Modulation of expression of Programmed Death-1 by administration of probiotic Dahi in DMH-induced colorectal carcinogenesis in rats. Mohania D, etal., Acta Biomed. 2013 Sep 1;84(2):102-9.
37. A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients. Nielsen C, etal., Lupus. 2004;13(7):510-6.
38. Hydronephrosis associated with antiurothelial and antinuclear autoantibodies in BALB/c-Fcgr2b-/-Pdcd1-/- mice. Okazaki T, etal., J Exp Med. 2005 Dec 19;202(12):1643-8. Epub 2005 Dec 13.
39. Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. Okazaki T, etal., Nat Med. 2003 Dec;9(12):1477-83. Epub 2003 Nov 2.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. Notch Signaling Pathway Was Involved in Regulating Programmed Cell Death 1 Expression during Sepsis-Induced Immunosuppression. Pan T, etal., Mediators Inflamm. 2015;2015:539841. doi: 10.1155/2015/539841. Epub 2015 Apr 30.
42. Frontline Science: Anti-PD-L1 protects against infection with common bacterial pathogens after burn injury. Patil NK, etal., J Leukoc Biol. 2018 Jan;103(1):23-33. doi: 10.1002/JLB.5HI0917-360R. Epub 2017 Dec 21.
43. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
44. Stimulation of the PD-1/PDL-1 T-cell co-inhibitory pathway is effective in treatment of experimental autoimmune glomerulonephritis. Reynolds J, etal., Nephrol Dial Transplant. 2012 Apr;27(4):1343-50. doi: 10.1093/ndt/gfr529. Epub 2011 Sep 29.
45. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
46. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
47. Monocyte programmed death ligand-1 expression after 3-4 days of sepsis is associated with risk stratification and mortality in septic patients: a prospective cohort study. Shao R, etal., Crit Care. 2016 May 9;20(1):124. doi: 10.1186/s13054-016-1301-x.
48. The characteristic profiles of PD-1 and PD-L1 expressions and dynamic changes during treatment in active tuberculosis. Shen L, etal., Tuberculosis (Edinb). 2016 Dec;101:146-150. doi: 10.1016/j.tube.2016.10.001. Epub 2016 Oct 1.
49. Immunovirotherapy with vesicular stomatitis virus and PD-L1 blockade enhances therapeutic outcome in murine acute myeloid leukemia. Shen W, etal., Blood. 2016 Mar 17;127(11):1449-58. doi: 10.1182/blood-2015-06-652503. Epub 2015 Dec 28.
50. Mechanistic investigation of immunosuppression in patients with condyloma acuminata. Shi YJ, etal., Mol Med Rep. 2013 Aug;8(2):480-6. doi: 10.3892/mmr.2013.1511. Epub 2013 Jun 6.
51. PD-1 Dynamically Regulates Inflammation and Development of Brain-Resident Memory CD8 T Cells During Persistent Viral Encephalitis. Shwetank, etal., Front Immunol. 2019 Apr 17;10:783. doi: 10.3389/fimmu.2019.00783. eCollection 2019.
52. Inhibiting the programmed death 1 pathway rescues Mycobacterium tuberculosis-specific interferon γ-producing T cells from apoptosis in patients with pulmonary tuberculosis. Singh A, etal., J Infect Dis. 2013 Aug 15;208(4):603-15. doi: 10.1093/infdis/jit206. Epub 2013 May 9.
53. Programmed Death Ligand 1 Promotes Early-Life Chlamydia Respiratory Infection-Induced Severe Allergic Airway Disease. Starkey MR, etal., Am J Respir Cell Mol Biol. 2016 Apr;54(4):493-503. doi: 10.1165/rcmb.2015-0204OC.
54. BALB/c-Fcgr2bPdcd1 mouse expressing anti-urothelial antibody is a novel model of autoimmune cystitis. Sugino Y, etal., Sci Rep. 2012;2:317. doi: 10.1038/srep00317. Epub 2012 Mar 19.
55. PD-1 is expressed by tumor-infiltrating immune cells and is associated with poor outcome for patients with renal cell carcinoma. Thompson RH, etal., Clin Cancer Res. 2007 Mar 15;13(6):1757-61.
56. The PD-1/PD-L1 inhibitory pathway is altered in pre-eclampsia and regulates T cell responses in pre-eclamptic rats. Tian M, etal., Sci Rep. 2016 Jun 9;6:27683. doi: 10.1038/srep27683.
57. Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus. Velazquez-Cruz R, etal., Eur J Hum Genet. 2007 Mar;15(3):336-41. Epub 2007 Jan 17.
58. Aberrant production of soluble inducible T cell co‑stimulator and soluble programmed cell death protein 1 in patients with chronic hepatitis B. Wang D, etal., Mol Med Rep. 2017 Dec;16(6):8556-8562. doi: 10.3892/mmr.2017.7630. Epub 2017 Sep 26.
59. TLR4 signaling improves PD-1 blockade therapy during chronic viral infection. Wang Y, etal., PLoS Pathog. 2019 Feb 6;15(2):e1007583. doi: 10.1371/journal.ppat.1007583. eCollection 2019 Feb.
60. Programmed death 1 mRNA in peripheral blood as biomarker of acute renal allograft rejection. Wang YW, etal., Chin Med J (Engl). 2011 Mar;124(5):674-8.
61. Lymphocyte subset expression and serum concentrations of PD-1/PD-L1 in sepsis - pilot study. Wilson JK, etal., Crit Care. 2018 Apr 17;22(1):95. doi: 10.1186/s13054-018-2020-2.
62. Blockade of programmed death-1 in young (New Zealand black x New Zealand white)F1 mice promotes the activity of suppressive CD8+ T cells that protect from lupus-like disease. Wong M, etal., J Immunol. 2010 Dec 1;185(11):6563-71. doi: 10.4049/jimmunol.0903401. Epub 2010 Nov 1.
63. Suppression of furin by interferon-γ and the impact on hepatitis B virus antigen biosynthesis in human hepatocytes. Wu JF, etal., Am J Pathol. 2012 Jul;181(1):19-25. doi: 10.1016/j.ajpath.2012.03.036. Epub 2012 May 24.
64. Expression of CD25(high) regulatory T cells and PD-1 in gastric infiltrating CD4(+) T lymphocytes in patients with Helicobacter pylori infection. Wu YY, etal., Clin Vaccine Immunol. 2011 Jul;18(7):1198-201. doi: 10.1128/CVI.00422-10. Epub 2011 May 11.
65. Immune Checkpoint Receptors Tim-3 and PD-1 Regulate Monocyte and T Lymphocyte Function in Septic Patients. Xia Q, etal., Mediators Inflamm. 2018 Nov 22;2018:1632902. doi: 10.1155/2018/1632902. eCollection 2018.
66. Genetic variations of IL-28B and PD-1 are in association with the susceptibility and outcomes of HCV infection in Southeast China. Xiao W, etal., Infect Genet Evol. 2015 Jun;32:89-96. doi: 10.1016/j.meegid.2015.02.022. Epub 2015 Mar 5.
67. Increased expression of programmed death (PD)-1 and its ligand PD-L1 correlates with impaired cell-mediated immunity in high-risk human papillomavirus-related cervical intraepithelial neoplasia. Yang W, etal., Immunology. 2013 Aug;139(4):513-22. doi: 10.1111/imm.12101.
68. [Temporal expression of PD-1 and PD-L1 during the development of experimental periodontitis in rats and its implications]. Yang X, etal., Shanghai Kou Qiang Yi Xue. 2019 Dec;28(6):591-596.
69. Control of pathogenic effector T-cell activities in situ by PD-L1 expression on respiratory inflammatory dendritic cells during respiratory syncytial virus infection. Yao S, etal., Mucosal Immunol. 2015 Jul;8(4):746-59. doi: 10.1038/mi.2014.106. Epub 2014 Dec 3.
70. Upregulation of circulating PD-L1/PD-1 is associated with poor post-cryoablation prognosis in patients with HBV-related hepatocellular carcinoma. Zeng Z, etal., PLoS One. 2011;6(9):e23621. doi: 10.1371/journal.pone.0023621. Epub 2011 Sep 1.
71. PD-1 deletion restores susceptibility to experimental autoimmune encephalomyelitis in miR-155-deficient mice. Zhang J and Braun MY, Int Immunol. 2014 Jul;26(7):407-15. doi: 10.1093/intimm/dxu043. Epub 2014 Mar 19.
72. Predictive Value of Soluble Programmed Death-1 for Severe Sepsis and Septic Shock During the First Week in an Intensive Care Unit. Zhao Y, etal., Shock. 2019 Mar;51(3):289-297. doi: 10.1097/SHK.0000000000001171.
73. Association between hepatitis B viral burden in chronic infection and a functional single nucleotide polymorphism of the PDCD1 gene. Zheng L, etal., J Clin Immunol. 2010 Nov;30(6):855-60. doi: 10.1007/s10875-010-9450-1. Epub 2010 Aug 11.
74. Blockade of PD-1 Signaling Enhances Th2 Cell Responses and Aggravates Liver Immunopathology in Mice with Schistosomiasis japonica. Zhou S, etal., PLoS Negl Trop Dis. 2016 Oct 28;10(10):e0005094. doi: 10.1371/journal.pntd.0005094. eCollection 2016 Oct.
75. Relationship between programmed cell death-1 polymorphisms and clearance of hepatitis B virus. Ülger Y, etal., Int J Immunogenet. 2015 Jun;42(3):133-9. doi: 10.1111/iji.12187. Epub 2015 Mar 4.
Additional References at PubMed
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PMID:21712100   PMID:21717461   PMID:21791547   PMID:21795591   PMID:21851845   PMID:21856939   PMID:21868077   PMID:21873635   PMID:21876620   PMID:21907333   PMID:21908482   PMID:21914188  
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PMID:22246361   PMID:22274654   PMID:22342451   PMID:22397719   PMID:22430646   PMID:22441249   PMID:22466343   PMID:22503210   PMID:22532845   PMID:22549384   PMID:22635166   PMID:22722467  
PMID:22740686   PMID:22742708   PMID:22892379   PMID:22894700   PMID:22895698   PMID:22900886   PMID:22916009   PMID:22956035   PMID:23041554   PMID:23087177   PMID:23101188   PMID:23189845  
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PMID:25480946   PMID:25499323   PMID:25510412   PMID:25517314   PMID:25540867   PMID:25623164   PMID:25663558   PMID:25682896   PMID:25682964   PMID:25685816   PMID:25700246   PMID:25702326  
PMID:25704439   PMID:25707450   PMID:25720800   PMID:25723350   PMID:25749122   PMID:25778100   PMID:25809635   PMID:25810006   PMID:25810125   PMID:25823822   PMID:25851293   PMID:25866972  
PMID:25881983   PMID:25891357   PMID:25894562   PMID:25895129   PMID:25931385   PMID:25938972   PMID:25940795   PMID:25950468   PMID:25957117   PMID:25963805   PMID:26004934   PMID:26062774  
PMID:26108738   PMID:26113085   PMID:26134222   PMID:26140546   PMID:26210691   PMID:26215444   PMID:26232179   PMID:26261529   PMID:26286967   PMID:26320063   PMID:26321864   PMID:26324743  
PMID:26346135   PMID:26359984   PMID:26361045   PMID:26378076   PMID:26393578   PMID:26463635   PMID:26473645   PMID:26517304   PMID:26517811   PMID:26525294   PMID:26541760   PMID:26542241  
PMID:26552662   PMID:26554829   PMID:26560846   PMID:26567141   PMID:26573233   PMID:26602187   PMID:26608464   PMID:26625204   PMID:26631501   PMID:26637667   PMID:26678894   PMID:26715621  
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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  
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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:30291219   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  
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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:31808243   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:32184441   PMID:32202617   PMID:32203213  
PMID:32203221   PMID:32205739   PMID:32206951   PMID:32221038   PMID:32222780   PMID:32238062   PMID:32248559   PMID:32253229   PMID:32255257   PMID:32265932   PMID:32268011   PMID:32350076  
PMID:32350591   PMID:32350592   PMID:32354698   PMID:32356560   PMID:32393998   PMID:32397769   PMID:32437509   PMID:32449229   PMID:32456524   PMID:32459892   PMID:32460355   PMID:32463489  
PMID:32506732   PMID:32509862   PMID:32510574   PMID:32527943   PMID:32529260   PMID:32546692   PMID:32554931   PMID:32557663   PMID:32567084   PMID:32582176   PMID:32584200   PMID:32593225  
PMID:32596285   PMID:32599539   PMID:32615319   PMID:32616706   PMID:32639111   PMID:32656742   PMID:32684057   PMID:32705113   PMID:32709714   PMID:32737851   PMID:32744106   PMID:32753468  
PMID:32778505   PMID:32778730   PMID:32779238   PMID:32788225   PMID:32788875   PMID:32802199   PMID:32816951   PMID:32826327   PMID:32839442   PMID:32839551   PMID:32843615   PMID:32854477  
PMID:32855204   PMID:32855386   PMID:32860814   PMID:32862461   PMID:32871584   PMID:32881084   PMID:32887724   PMID:32890458   PMID:32937024   PMID:32975728   PMID:32977151   PMID:32978821  
PMID:32987122   PMID:32987482   PMID:32990474   PMID:32996897   PMID:32999004   PMID:33045663   PMID:33067256   PMID:33069765   PMID:33069926   PMID:33072070   PMID:33078970   PMID:33084148  
PMID:33084525   PMID:33098668   PMID:33112575   PMID:33118543   PMID:33121190   PMID:33122602   PMID:33128485   PMID:33132244   PMID:33137405   PMID:33154356   PMID:33188139   PMID:33205076  
PMID:33211154   PMID:33231796   PMID:33231797   PMID:33232723   PMID:33248366   PMID:33278498   PMID:33280089   PMID:33301655   PMID:33306195   PMID:33307156   PMID:33320839   PMID:33321503  
PMID:33324391   PMID:33328484   PMID:33351665   PMID:33358116   PMID:33386384   PMID:33389528   PMID:33413541   PMID:33428059   PMID:33436123   PMID:33471137   PMID:33476333   PMID:33488620  
PMID:33488622   PMID:33508291   PMID:33521133   PMID:33524501   PMID:33547304   PMID:33552075   PMID:33581579   PMID:33581582   PMID:33584637   PMID:33588246   PMID:33606065   PMID:33606996  
PMID:33637989   PMID:33643306   PMID:33649535   PMID:33662590   PMID:33679715   PMID:33707428   PMID:33717091   PMID:33721375   PMID:33735518   PMID:33737722   PMID:33746973   PMID:33754054  
PMID:33759577   PMID:33760188   PMID:33765256   PMID:33767700   PMID:33771483   PMID:33783613   PMID:33793112   PMID:33815416   PMID:33816631   PMID:33832149   PMID:33833369   PMID:33877518  
PMID:33877652   PMID:33897693   PMID:33897892   PMID:33903974   PMID:33906710   PMID:33910834   PMID:33930105   PMID:33934206   PMID:33941556   PMID:33955303   PMID:33961781   PMID:33973887  
PMID:33975004   PMID:33989557   PMID:33991512   PMID:34000246   PMID:34002648   PMID:34015527   PMID:34025646   PMID:34031715   PMID:34034998   PMID:34047473   PMID:34057203   PMID:34067485  
PMID:34075161   PMID:34083754   PMID:34097308   PMID:34101055   PMID:34120295   PMID:34122444   PMID:34124265   PMID:34127811   PMID:34135066   PMID:34146942   PMID:34153420   PMID:34164813  
PMID:34170847   PMID:34172011   PMID:34172932   PMID:34174421   PMID:34177913   PMID:34183838   PMID:34194433   PMID:34205347   PMID:34220824   PMID:34240405   PMID:34267327   PMID:34271894  
PMID:34289424   PMID:34290992   PMID:34305941   PMID:34339918   PMID:34347720   PMID:34356594   PMID:34392396   PMID:34422089   PMID:34424568   PMID:34452627   PMID:34471285   PMID:34494503  
PMID:34516743   PMID:34517527   PMID:34520820   PMID:34544358   PMID:34562519   PMID:34570200   PMID:34571082   PMID:34571084   PMID:34585994   PMID:34596210   PMID:34630383   PMID:34638729  
PMID:34642316   PMID:34653731   PMID:34654367   PMID:34689234   PMID:34705520   PMID:34714577   PMID:34739340   PMID:34752634   PMID:34755131   PMID:34755137   PMID:34763456   PMID:34777389  
PMID:34795203   PMID:34797860   PMID:34825707   PMID:34839857   PMID:34899709   PMID:34910956   PMID:34920658   PMID:34933430   PMID:34969752   PMID:34981715   PMID:34996890   PMID:34996935  
PMID:35032188   PMID:35033647   PMID:35042864   PMID:35059863   PMID:35063794   PMID:35076848   PMID:35163542   PMID:35181584   PMID:35188766   PMID:35225458   PMID:35233733   PMID:35238073  
PMID:35263569   PMID:35316767   PMID:35326415   PMID:35328606   PMID:35386715   PMID:35401534   PMID:35558082   PMID:35848481  


Genomics

Comparative Map Data
PDCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,849,884 - 241,858,894 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2241,849,884 - 241,858,894 (-)EnsemblGRCh38hg38GRCh38
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
T2T-CHM13v2.02242,351,431 - 242,360,440 (-)NCBI
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 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl994,418,791 - 94,431,937 (-)Ensembl
Rnor_6.09101,305,742 - 101,319,937 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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_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
ROS_Cfam_1.0 Ensembl2551,809,263 - 51,823,016 (-)Ensembl
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 Ensembl15140,336,258 - 140,347,478 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115140,337,353 - 140,347,493 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PDCD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,877,383 - 127,886,234 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl10127,878,554 - 127,886,088 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604071,433,325 - 71,442,153 (+)NCBIVero_WHO_p1.0
Pdcd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248475,732,767 - 5,742,269 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248475,732,922 - 5,741,908 (-)NCBIHetGla_female_1.0hetGla2

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
  CP068276 (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
  MW051354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW051355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW051356 (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
T2T-CHM13v2.02242,351,431 - 242,360,440 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712573   ⟹   XP_006712636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,851,990 - 241,858,894 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005009 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712636 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC41700 (Get FASTA)   NCBI Sequence Viewer  
  AAC51773 (Get FASTA)   NCBI Sequence Viewer  
  AAC51774 (Get FASTA)   NCBI Sequence Viewer  
  AAH74740 (Get FASTA)   NCBI Sequence Viewer  
  AAN64003 (Get FASTA)   NCBI Sequence Viewer  
  AAO25116 (Get FASTA)   NCBI Sequence Viewer  
  AAO63583 (Get FASTA)   NCBI Sequence Viewer  
  AAP85379 (Get FASTA)   NCBI Sequence Viewer  
  ABK41899 (Get FASTA)   NCBI Sequence Viewer  
  AJS10358 (Get FASTA)   NCBI Sequence Viewer  
  AJS10359 (Get FASTA)   NCBI Sequence Viewer  
  AJS10360 (Get FASTA)   NCBI Sequence Viewer  
  ATL63445 (Get FASTA)   NCBI Sequence Viewer  
  ATL63446 (Get FASTA)   NCBI Sequence Viewer  
  ATL63447 (Get FASTA)   NCBI Sequence Viewer  
  ATL63448 (Get FASTA)   NCBI Sequence Viewer  
  ATL63449 (Get FASTA)   NCBI Sequence Viewer  
  ATL63450 (Get FASTA)   NCBI Sequence Viewer  
  ATL63451 (Get FASTA)   NCBI Sequence Viewer  
  ATL63452 (Get FASTA)   NCBI Sequence Viewer  
  BAG36577 (Get FASTA)   NCBI Sequence Viewer  
  CBX51254 (Get FASTA)   NCBI Sequence Viewer  
  EAW71298 (Get FASTA)   NCBI Sequence Viewer  
  Q15116 (Get FASTA)   NCBI Sequence Viewer  
  UMM61400 (Get FASTA)   NCBI Sequence Viewer  
  UMM61401 (Get FASTA)   NCBI Sequence Viewer  
  UMM61402 (Get FASTA)   NCBI Sequence Viewer  
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 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

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15116-F1-model_v2 AlphaFold Q15116 1-288 view protein structure

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
NM_005018.3(PDCD1):c.77-218T>C single nucleotide variant not provided [RCV001708375] Chr2:241853198 [GRCh38]
Chr2:242795350 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.627+252C>T single nucleotide variant not provided [RCV001680185] Chr2:241851697 [GRCh38]
Chr2:242793849 [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.804T>C (p.Ala268=) single nucleotide variant not provided [RCV001615725] Chr2:241851121 [GRCh38]
Chr2:242793273 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.*889G>A single nucleotide variant not provided [RCV001659232] Chr2:241850169 [GRCh38]
Chr2:242792321 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.77-287del deletion not provided [RCV001661135] Chr2:241853267 [GRCh38]
Chr2:242795419 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.76+241_76+242insTTTGGGCAGGTGACTGCCCAAAG insertion not provided [RCV001620831] Chr2:241858521..241858522 [GRCh38]
Chr2:242800673..242800674 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.437-115G>A single nucleotide variant not provided [RCV001618958] Chr2:241852468 [GRCh38]
Chr2:242794620 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.76+10G>A single nucleotide variant not provided [RCV000973324] Chr2:241858753 [GRCh38]
Chr2:242800905 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.593-56C>G single nucleotide variant not provided [RCV001659665] Chr2:241852039 [GRCh38]
Chr2:242794191 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.627+189G>A single nucleotide variant not provided [RCV001677921] Chr2:241851760 [GRCh38]
Chr2:242793912 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.593-61dup duplication not provided [RCV001657641] Chr2:241852038..241852039 [GRCh38]
Chr2:242794190..242794191 [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
NM_005018.3(PDCD1):c.644C>T (p.Ala215Val) single nucleotide variant not provided [RCV001696085] Chr2:241851281 [GRCh38]
Chr2:242793433 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.77-180G>C single nucleotide variant not provided [RCV001690296] Chr2:241853160 [GRCh38]
Chr2:242795312 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.628-110A>G single nucleotide variant not provided [RCV001668712] Chr2:241851407 [GRCh38]
Chr2:242793559 [GRCh37]
Chr2:2q37.3		 benign
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
NM_005018.3(PDCD1):c.76+15C>T single nucleotide variant not provided [RCV001533940] Chr2:241858748 [GRCh38]
Chr2:242800900 [GRCh37]
Chr2:2q37.3		 benign
NM_005018.3(PDCD1):c.76+126G>C single nucleotide variant not provided [RCV001669111] Chr2:241858637 [GRCh38]
Chr2:242800789 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3 copy number gain not provided [RCV001827620] Chr2:240208466..243199373 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 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
  ENSP00000335062.5 UniProtKB/Swiss-Prot
  ENSP00000340808.3 UniProtKB/TrEMBL
  ENSP00000390296.1 UniProtKB/TrEMBL
  ENSP00000480684.1 UniProtKB/Swiss-Prot
  ENSP00000486779.1 UniProtKB/TrEMBL
  ENSP00000487175.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000334409 ENTREZGENE
  ENST00000334409.10 UniProtKB/Swiss-Prot
  ENST00000343705.3 UniProtKB/TrEMBL
  ENST00000418831.1 UniProtKB/TrEMBL
  ENST00000618185.3 UniProtKB/Swiss-Prot
  ENST00000630230.1 UniProtKB/TrEMBL
  ENST00000630560.1 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