Gene
CD46
CD46 molecule
- HGNC 6953(opens in a new tab)
- Ensembl gene ENSG00000117335(opens in a new tab)
- NCBI Gene 4179(opens in a new tab)
Summary
- Cytogenetic location
- 1q32.2
- Coordinates
- Chromosome 1: 207,752,054–207,795,504 (GRCh38)
- Exons
- 13 exons across 43.5 kb
- Protein
- 377 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- TRA2.10, MGC26544, TLX
- Previous symbols
- MIC10, MCP
- MANE Select transcript
- ENST00000367042.6NM_172351.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hemolytic Uremic Syndrome, Interstitial Nephritis
- Atypical Hemolytic-Uremic Syndrome With Mcp/Cd46 Anomaly
- 3 GenCC submitters rate it definitive or strong
- Atypical Hemolytic Uremic Syndrome With Complement Gene AbnormalityAutosomal dominant
- 3 GenCC submitters rate it definitive or strong
- Atypical Hemolytic-Uremic SyndromeAutosomal dominant
A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- Hemolytic-Uremic Syndrome
Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- Hereditary Hemolytic Uremic Syndrome
- ClinGen rates the link definitive
- 4 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
- 4 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
- 4 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 dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How CD46 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.3 kb of the gene's 43.5 kb; 1,134 of those bases code for the protein.
How a genome test reads CD46
66
positions in CD46 where ClinVar classes a change as pathogenic or likely pathogenic
29 of them (44%) fall in regions short reads find hard.
- Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (29 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 43.5 kb of CD46, introns included, not only the 3.3 kb of exons.
Traits linked to CD46
The Human Phenotype Ontology lists these as features of the rare conditions CD46 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Low platelet count
- Microangiopathic hemolytic anemia
- Hemolytic anemia
- Hypofibrinogenemia
- Prolonged prothrombin time
- Decreased mean corpuscular hemoglobin concentration
- Disseminated intravascular coagulation
- Bleeding in brain
Show 2 more traits
Laboratory abnormality
- High liver enzymes
- Generalized edema
- High urine protein levels
- Excess fluid in lungs
- Fluid around lungs
- Hemoglobin in urine
- Increased circulating lactate dehydrogenase concentration
- Blood in urine
Show 2 more traits
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.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- 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.). CD46 gene: CD46 molecule. Retrieved 17 October 2026, from https://dantelabs.com/genes/cd46
Dante Labs. CD46 gene: CD46 molecule [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cd46
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