Aliases for PDCD1 Gene
Aliases for PDCD1 Gene
External Ids for PDCD1 Gene
- HGNC: 8760
- Entrez Gene: 5133
- Ensembl: ENSG00000188389
- OMIM: 600244
- UniProtKB: Q15116
Previous HGNC Symbols for PDCD1 Gene
- SLEB2
Previous GeneCards Identifiers for PDCD1 Gene
- GC02U990074
- GC02P241575
- GC02P9D0113
- GC02M242440
- GC02M242792
- GC02M234541
Summaries for PDCD1 Gene
-
This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008]
GeneCards Summary for PDCD1 Gene
PDCD1 (Programmed Cell Death 1) is a Protein Coding gene. Diseases associated with PDCD1 include Systemic Lupus Erythematosus 2 and Multiple Sclerosis. Among its related pathways are T cell receptor signaling pathway and T-Cell Receptor and Co-stimulatory Signaling. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity.
UniProtKB/Swiss-Prot for PDCD1 Gene
-
Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell death inducer, in association with other factors.
Additional gene information for PDCD1 Gene
- Monarch Initiative
- Search for PDCD1 at DataMed
- Search for PDCD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDCD1 Gene
Genomics for PDCD1 Gene
GeneHancer (GH) Regulatory Elements for PDCD1 Gene
Promoters and enhancers for PDCD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PDCD1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PDCD1 gene promoter:
-
- AML1a
Regulatory Element Products
Genomic Locations for PDCD1 Gene
Genomic Locations for PDCD1 Gene
- chr2:241,849,881-241,858,908
- (GRCh38/hg38)
- Size:
- 9,028 bases
- Orientation:
- Minus strand
- chr2:242,792,033-242,801,060
- (GRCh37/hg19)
- Size:
- 9,028 bases
- Orientation:
- Minus strand
Genomic View for PDCD1 Gene
Genes around PDCD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by Entrez Gene
- 2q37.3 by HGNC
- 2q37.3 by Ensembl
PDCD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PDCD1 Gene
Proteins for PDCD1 Gene
-
Protein details for PDCD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15116-PDCD1_HUMAN
- Recommended name:
- Programmed cell death protein 1
- Protein Accession:
- Q15116
- O00517
- Q8IX89
Protein attributes for PDCD1 Gene
- Size:
- 288 amino acids
- Molecular mass:
- 31647 Da
- Quaternary structure:
-
- Monomer.
Protein Expression for PDCD1 Gene
Post-translational modifications for PDCD1 Gene
Other Protein References for PDCD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PDCD1 (PD-1)
-
Custom Antibody ServicesOriGene Antibodies for PDCD1
- AM03126PU-N
- AM03126PU-S
- AM05572PU-L
- AM05572PU-N
- AM05574PU-N
- AM05614FC-N
- AM05614PU-L
- AM05614PU-N
- AM05614RP-N
- AM26479AF-N
- AM26479RP-N
- AM31881BT-N
- AM31881FC-N
- AM31881PU-N
- AM31881RP-N
- AM33411PU-N
- AM33412PU-N
- AP07336PU-N
- AP07723PU-N
- CF806806
- CF806807
- CF806808
- CF806809
- CF806810
- CF806811
- CF806813
- CF806834
- CF806835
- CF806837
- CF806927
- CF806929
- CF806940
- CF806961
- CF807094
- CF807098
- CF807207
- CF807847
- CF807851
- CF807861
- CF807862
- CF807864
- CF807865
- CF807866
- CF807867
- CF807868
- CF807879
- CF807880
- CF807888
- CF807889
- CF807942
- CF807988
- CF807995
- CF808002
- CF808033
- CF808034
- CF808035
- CF808036
- CF808043
- CF808069
- TA303025
- TA306403
- TA306404
- TA319692
- TA319693
- TA320435
- TA320436
- TA320437
- TA320438
- TA321678
- TA355049
- TA355050
- TA355051
- TA355052
- TA355053
- TA355054
- TA355055
- TA806806
- TA806807
- TA806808
- TA806809
- TA806810
- TA806811
- TA806813
- TA806834
- TA806835
- TA806837
- TA806927
- TA806929
- TA806940
- TA806961
- TA807094
- TA807098
- TA807207
- TA807847
- TA807851
- TA807861
- TA807862
- TA807864
- TA807865
- TA807866
- TA807867
- TA807868
- TA807880
- TA807888
- TA807889
- TA807942
- TA807988
- TA807995
- TA808002
- TA808033
- TA808034
- TA808035
- TA808036
- TA808043
- TA808069
- UM800089
- UM800089CF
- UM800090
- UM800090CF
- UM800091
- UM800091CF
- UM800114
- UM800114CF
- UM870089
- UM870090
- UM870091
- UM870114
- Novus Biologicals Antibodies for PDCD1
-
Abcam antibodies for PDCD1
- Invitrogen Antibodies for PDCD1 (AFLGC-PDCD1)
- GeneTex PDCD1 Antibody for PDCD1
-
CrownBio Antibodies for PDCD1
-
Custom Antibody ServicesProSci Antibodies for PDCD1
- programmed cell death 1 [4065]
- programmed cell death 1 [4067]
- programmed cell death 1 [PM-5177]
- programmed cell death 1 [PM-5179]
- programmed cell death 1 [RF16001]
- programmed cell death 1 [RF16002]
- programmed cell death 1 [RF16002-HRP]
- programmed cell death 1 [RF16003]
- programmed cell death 1 [RF16003-HRP]
- programmed cell death 1 [RF16004]
- programmed cell death 1 [RF16005]
- Sino Biological Antibodies for PDCD1
Protein Products
- R&D Systems Proteins and Enzymes for PDCD1 (PD-1)
- Search Origene for MassSpec and Protein Over-expression Lysates for PDCD1
- Origene Custom Protein Services for PDCD1
- Sino Biological Recombinant Proteins for PDCD1
- Sino Biological Cell Lysates for PDCD1
- ProSpec Recombinant Proteins for PDCD1
- GeneTex Proteins for PDCD1
-
ProSci Proteins for PDCD1
- programmed cell death 1 [96-595]
- programmed cell death 1 [96-597]
- programmed cell death 1 [96-600]
- programmed cell death 1 [96-607]
- programmed cell death 1 [96-609]
- programmed cell death 1 [96-611]
- programmed cell death protein 1 precursor [96-816]
- programmed cell death 1 [RF16000-01]
- programmed cell death 1 [90-447]
- programmed cell death 1 [90-448]
- programmed cell death 1 [90-449]
- programmed cell death 1 [91-596]
- programmed cell death 1 [91-960]
- programmed cell death 1 [92-495]
- programmed cell death 1 [92-496]
- programmed cell death 1 [92-672]
- programmed cell death 1 [92-673]
- programmed cell death 1 [92-688]
- programmed cell death 1 [95-115]
-
Abcam proteins for PDCD1
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for PDCD1
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PDCD1 (PD-1)
- antibodies-online: Search results for 22 available PD-1 Elisa Kits ranked by validation data
- Compare Top PD-1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for PDCD1
-
Abcam assays for PDCD1
- Sino Biological Assays for PDCD1
No data available for DME Specific Peptides for PDCD1 Gene
Domains & Families for PDCD1 Gene
Gene Families for PDCD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PDCD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PDCD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PDCD1 Gene
Function for PDCD1 Gene
Molecular function for PDCD1 Gene
- UniProtKB/Swiss-Prot Function:
- Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell death inducer, in association with other factors.
- GENATLAS Biochemistry:
- programmed cell death (apoptosis) 1,mouse PD1 homolog
Phenotypes From GWAS Catalog for PDCD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | obsolete signal transducer activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 15240681 |
Phenotypes for PDCD1 Gene
- MGI mutant phenotypes for PDCD1:
-
inferred from 4 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PDCD1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased vesicular stomatitis virus (VSV) infection
- Increased cell death HMECs cells
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Model Products
-
Taconic Biosciences Mouse Models for PDCD1
- Cyagen custom Knockout/knockin (KOKI) mouse models for PDCD1
-
CRISPR Products
-
OriGene CRISPR knockouts for PDCD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDCD1
- genomics-online: gRNA clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
- Applied Biological Materials CRISPR for PDCD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDCD1
- GenScript: Design CRISPR guide RNA sequences for PDCD1
miRNA for PDCD1 Gene
- miRTarBase miRNAs that target PDCD1
-
- hsa-mir-6886-5p (MIRT542827)
- hsa-mir-4692 (MIRT542828)
- hsa-mir-4514 (MIRT542829)
- hsa-mir-922 (MIRT542830)
- hsa-mir-4756-3p (MIRT542831)
- hsa-mir-16-5p (MIRT542832)
- hsa-mir-6838-5p (MIRT542833)
- hsa-mir-195-5p (MIRT542834)
- hsa-mir-15b-5p (MIRT542835)
- hsa-mir-424-5p (MIRT542836)
- hsa-mir-15a-5p (MIRT542837)
- hsa-mir-497-5p (MIRT542838)
- hsa-mir-506-5p (MIRT773112)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDCD1
- Browse OriGene Inhibitory RNA Products For PDCD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDCD1
- genomics-online: shRNA clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDCD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDCD1
- Applied Biological Materials Clones for PDCD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for PDCD1 (PD-1)
Cell Line Products
-
Horizon Cell Lines for PDCD1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDCD1 Gene
Localization for PDCD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PDCD1 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009897 | external side of plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDCD1 Gene
Pathways & Interactions for PDCD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | T cell receptor signaling pathway | ||
| 2 | Cell adhesion molecules (CAMs) | ||
| 3 | NF-kappaB Signaling | ||
| 4 | B Cell Development Pathways | ||
| 5 | T Cell Co-Signaling Pathway: Ligand-Receptor Interactions | ||
Pathways by source for PDCD1 Gene
2 BioSystems pathways for PDCD1 Gene
4 Reactome pathways for PDCD1 Gene
2 KEGG pathways for PDCD1 Gene
2 R&D Systems pathways for PDCD1 Gene
1 Cell Signaling Technology pathway for PDCD1 Gene
Interacting Proteins for PDCD1 Gene
Selected Interacting proteins:
ENSP00000335062
Q15116-PDCD1_HUMAN
for PDCD1 Gene via
STRING
IID
MINT
UniProtKB
GPS-Prot Interaction Network for PDCD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002644 | negative regulation of tolerance induction | IEA | -- |
| GO:0006915 | apoptotic process | IEA,TAS | -- |
| GO:0006959 | humoral immune response | TAS | 9332365 |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007275 | multicellular organism development | TAS | 9332365 |
Drugs & Compounds for PDCD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| nivolumab | Approved | Pharma | antibody, immunotherapy, inhibitor, Target | Therapeutic Antibodies, Immunotherapies | 604 | |
| Pembrolizumab | Approved | Pharma | Target, antagonist, antibody | 709 | ||
| Keytruda | Approved September 2014 | Pharma | 0 | |||
| Opdivo | Approved March 2015/ Approved December 2014 | Pharma | 0 | |||
| CT-011 | Investigational | Pharma | Antibody, Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for PDCD1 Gene
mRNA/cDNA for PDCD1 Gene
- (3) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (9) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000334409 2114 bps (uc002wcq.5)
- ENST00000418831 1019 bps (uc061uuv.1)
- ENST00000343705 366 bps (uc061uuw.1)
Unigene Clusters for PDCD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PDCD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDCD1
- genomics-online: gRNA clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
- Applied Biological Materials CRISPR for PDCD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PDCD1
- GenScript: Design CRISPR guide RNA sequences for PDCD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PDCD1
- Browse OriGene Inhibitory RNA Products For PDCD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDCD1
- genomics-online: shRNA clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PDCD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PDCD1
- Applied Biological Materials Clones for PDCD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for PDCD1 (PD-1)
Expression for PDCD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
mRNA differential expression in normal tissues according to GTEx for PDCD1 Gene
This gene is overexpressed in Whole Blood (x6.8), Heart - Atrial Appendage (x5.4), and Spleen (x5.3).
This gene is overexpressed in Vitreous humor (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDCD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of PDCD1 Gene:
PDCD1SOURCE GeneReport for Unigene cluster for PDCD1 Gene:
Hs.158297Evidence on tissue expression from TISSUES for PDCD1 Gene
- Blood(2.8)
- Lymph node(2.7)
- Intestine(2.6)
- Spleen(2.1)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for PDCD1
-
OriGene qPCR primer pairs and template standards for PDCD1
- genomics-online: primer clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDCD1 Gene
Orthologs for PDCD1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PDCD1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | PDCD1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PDCD1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | LOC102550808 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pdcd1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PDCD1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PDCD1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PDCD1 34 33 |
|
OneToOne |
- Species where no ortholog for PDCD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Evolution for PDCD1 Gene
- ENSEMBL:
- Gene Tree for PDCD1 (if available)
- TreeFam:
- Gene Tree for PDCD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PDCD1: view image
Paralogs for PDCD1 Gene
(1) SIMAP similar genes for PDCD1 Gene using alignment to 3 proteins:
- PDCD1_HUMAN
- E7ER21_HUMAN
- H0Y2W6_HUMAN
No data available for Paralogs for PDCD1 Gene
Variants for PDCD1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11568821 | risk-factor, Systemic lupus erythematosus, association wit 2, Multiple sclerosis modifier of disease progression | 241,851,760(-) | C/G/T | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
| rs1000249974 | -- | 241,852,874(-) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs1000309869 | -- | 241,857,398(-) | T/G | intron_variant | |
| rs1000350301 | -- | 241,857,216(-) | C/T | intron_variant | |
| rs1000554864 | -- | 241,856,991(-) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv165e55 | CNV | loss | 17911159 |
| dgv4200n100 | CNV | loss | 25217958 |
| dgv4201n100 | CNV | gain | 25217958 |
| esv3893582 | CNV | gain | 25118596 |
| nsv1002941 | CNV | gain | 25217958 |
| nsv470533 | CNV | loss | 18288195 |
| nsv584991 | CNV | loss | 21841781 |
| nsv821942 | CNV | gain | 20364138 |
| nsv955302 | CNV | deletion | 24416366 |
| nsv997984 | CNV | gain | 25217958 |
| nsv998059 | CNV | loss | 25217958 |
Residual Variation Intolerance Score:
55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.80;
73.69% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PDCD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDCD1 Gene
Disorders for PDCD1 Gene
(23) MalaCards diseases for PDCD1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| systemic lupus erythematosus 2 |
|
|
| multiple sclerosis |
|
|
| systemic lupus erythematosus |
|
|
| lupus erythematosus |
|
|
| igg4-related disease |
|
|
Search PDCD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PDCD1_HUMAN- Systemic lupus erythematosus 2 (SLEB2) [MIM:605218]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:12402038}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for PDCD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PDCD1 Gene
Publications for PDCD1 Gene
- A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. (PMID: 12402038) Prokunina L … Alarcón-Riquelme ME (Nature genetics 2002) 2 3 4 22 44 58
- Programmed death-1 (PD-1) gene polymorphisms lodged in the genetic predispositions of Kawasaki Disease. (PMID: 19468750) Chun JK … Kim DS (European journal of pediatrics 2010) 3 22 44 58
- Polymorphisms in PDCD1 gene are not associated with Wegener's granulomatosis. (PMID: 19449188) Sakthivel P … Lefvert AK (Rheumatology international 2009) 3 22 44 58
- PDCD1, CTLA-4 and p53 gene polymorphism and susceptibility to gestational trophoblastic diseases. (PMID: 19263877) Dehaghani AS … Ghaderi A (The Journal of reproductive medicine 2009) 3 22 44 58
- Association between the PD1.3A/G polymorphism of the PDCD1 gene and systemic lupus erythematosus in European populations: a meta-analysis. (PMID: 19220647) Liu JL … Zhang XJ (Journal of the European Academy of Dermatology and Venereology : JEADV 2009) 3 22 44 58
Products for PDCD1 Gene
- R&D Systems Antibodies for PDCD1 (PD-1)
- R&D Systems Proteins and Enzymes for PDCD1 (PD-1)
- R&D Systems ELISAs, Proteome Profiler Antibody Arrays, and other biochemical assays for PDCD1 (PD-1)
- R&D Systems cDNA Clones for PDCD1 (PD-1)
- Browse Human Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for PDCD1
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- Custom Assay ServicesOriGene ELISA Kits for PDCD1
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- ProSpec Recombinant Proteins for PDCD1
- Taconic Biosciences Mouse Models for PDCD1
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- antibodies-online: Search results for 645 available PD-1 Antibodies ranked by validation data
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- antibodies-online: Search results for 22 available PD-1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 96 available PD-1 Proteins ranked by validation data
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- GeneTex PDCD1 Antibody for PDCD1
- GeneTex Proteins for PDCD1
- Custom Antibody ServicesProSci Antibodies for PDCD1
- programmed cell death 1 [4065]
- programmed cell death 1 [4067]
- programmed cell death 1 [PM-5177]
- programmed cell death 1 [PM-5179]
- programmed cell death 1 [RF16001]
- programmed cell death 1 [RF16002]
- programmed cell death 1 [RF16002-HRP]
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- programmed cell death 1 [RF16003-HRP]
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- ProSci Proteins for PDCD1
- programmed cell death 1 [96-595]
- programmed cell death 1 [96-597]
- programmed cell death 1 [96-600]
- programmed cell death 1 [96-607]
- programmed cell death 1 [96-609]
- programmed cell death 1 [96-611]
- programmed cell death protein 1 precursor [96-816]
- programmed cell death 1 [RF16000-01]
- programmed cell death 1 [90-447]
- programmed cell death 1 [90-448]
- programmed cell death 1 [90-449]
- programmed cell death 1 [91-596]
- programmed cell death 1 [91-960]
- programmed cell death 1 [92-495]
- programmed cell death 1 [92-496]
- programmed cell death 1 [92-672]
- programmed cell death 1 [92-673]
- programmed cell death 1 [92-688]
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- Horizon Cell Lines for PDCD1
- genomics-online: cdna clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
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- Overview of 146 available PD-1 gene related products
- genomics-online: primer clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
- genomics-online: shRNA clones - Search results for 146 available PD-1 gene related products
- Overview of 146 available PD-1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PDCD1
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- GeneCopoeia miRNA 3'UTR Target clone products for PDCD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDCD1
Sources for PDCD1 Gene
- (1) GeneCards
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- (3) EntrezGene
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- (58) PubMed
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- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
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- (80) miRTarBase
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