CD70 (CD70 molecule)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
970
Gene name Gene Name - the full gene name approved by the HGNC.
CD70 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD70
Synonyms (NCBI Gene) Gene synonyms aliases
CD27-L, CD27L, CD27LG, LPFS3, TNFSF7, TNLG8A
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
RFX1 Unknown 21192791
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602840 11937 ENSG00000125726
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Severe combined immunodeficiency disease Severe combined immunodeficiency due to CD70 deficiency rs368303189, rs1568431262, rs1568431102 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (90)
Associations from Text Mining Disease 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