Gene
CD70
CD70 molecule
- HGNC 11937↗(opens in a new tab)
- Ensembl gene ENSG00000125726↗(opens in a new tab)
- NCBI Gene 970↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 6,585,839–6,591,150 (GRCh38)
- Exons
- 3 exons across 5.3 kb
- Protein
- 193 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CD27L, CD27-L
- Previous symbols
- CD27LG, TNFSF7
- MANE Select transcript
- ENST00000245903.4NM_001252.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Severe Combined Immunodeficiency
- Autosomal recessive
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CD70 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.9 kb of the gene's 5.3 kb; 582 of those bases code for the protein.
Genes linked to the same conditions
- BCL11BBCL11 transcription factor BShares 3 conditions
- CARD11caspase recruitment domain family member 11Shares 3 conditions
- ADAadenosine deaminaseShares 2 conditions
- AICDAactivation induced cytidine deaminaseShares 2 conditions
- AK2adenylate kinase 2Shares 2 conditions
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 2 conditions
- BCL10BCL10 immune signaling adaptorShares 2 conditions
- BLNKB cell linkerShares 2 conditions
- BTKBruton tyrosine kinaseShares 2 conditions
- C1QAcomplement C1q A chainShares 2 conditions
- C1QBcomplement C1q B chainShares 2 conditions
- C1QCcomplement C1q C chainShares 2 conditions
Traits linked to CD70
The Human Phenotype Ontology lists these as features of the rare conditions CD70 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CD70 gene: CD70 molecule. Retrieved 17 October 2026, from https://dantelabs.com/genes/cd70
Dante Labs. CD70 gene: CD70 molecule [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cd70
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