CD70 (CD70 molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 970
Gene name CD70 molecule
Gene symbol CD70
Synonyms (NCBI Gene)
CD27-LCD27LCD27LGLPFS3TNFSF7TNLG8A
Chromosome 19
Chromosome location 19p13.3
Summary The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferat
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs368303189 G>A Pathogenic Coding sequence variant, stop gained, intron variant
rs1568431102 AAG>- Pathogenic Intron variant, coding sequence variant, inframe deletion
rs1568431262 A>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT2196682 hsa-miR-3545-3p CLIP-seq
MIRT2196683 hsa-miR-4635 CLIP-seq
MIRT2196684 hsa-miR-4753-3p CLIP-seq
MIRT2196685 hsa-miR-4768-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
RFX1 Unknown 21192791
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002456 Process T cell mediated immunity IMP 28011864
GO:0005164 Function Tumor necrosis factor receptor binding IEA
GO:0005515 Function Protein binding IPI 12324477, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 8387892, 28011863
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602840 11937 ENSG00000125726
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P32970
Protein name CD70 antigen (CD27 ligand) (CD27-L) (Tumor necrosis factor ligand superfamily member 7) (CD antigen CD70)
Protein function Expressed at the plasma membrane of B cells, it is the ligand of the CD27 receptor which is specifically expressed at the surface of T cells (PubMed:28011863, PubMed:28011864, PubMed:8387892). The CD70-CD27 signaling pathway mediates antigen-spe
PDB 7KX0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 73 → 191 TNF(Tumour Necrosis Factor) family Domain
Sequence
Sequence length 193
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Severe combined immunodeficiency due to CD70 deficiency Pathogenic rs368303189, rs1568431262, rs1568431102 RCV000735975
RCV000735976
RCV000735977
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CD70-related disorder Likely benign rs145065586, rs34080876, rs142340418, rs111613514, rs778323980, rs555945239 RCV003941165
RCV003939051
RCV003941626
RCV003941713
RCV003949770
RCV003934156
Show/Hide Text Mining Associations (90)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 20035856
Adenocarcinoma of Lung Associate 32549766
Adenoma Oxyphilic Stimulate 22401771
Agammaglobulinemia Associate 31678777
Arthritis Rheumatoid Associate 17675524, 26464634, 35216458
Ataxia Telangiectasia Associate 21192791
Autoimmune Diseases Associate 20035856, 32419211
Breast Neoplasms Inhibit 18804527
Breast Neoplasms Associate 20119871, 33256829, 37106127
Burkitt Lymphoma Associate 11333903