Gene
ARMC5
armadillo repeat containing 5
- HGNC 25781↗(opens in a new tab)
- Ensembl gene ENSG00000140691↗(opens in a new tab)
- NCBI Gene 79798↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p11.2
- Coordinates
- Chromosome 16: 31,459,501–31,467,165 (GRCh38)
- Exons
- 6 exons across 7.7 kb
- Protein
- 935 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- FLJ13063
- MANE Select transcript
- ENST00000268314.9NM_001105247.2
- 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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Carney Complex & Hereditary Adrenal Cushing Syndrome
- ARMC5-related primary bilateral macronodular adrenal hyperplasiaAutosomal dominant
Enlargement of both adrenal glands with multiple nodules that can slowly produce excess cortisol in adulthood.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Allows biochemical screening for cortisol excess in carriers and their relatives.
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 ARMC5 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 3.1 kb of the gene's 7.7 kb; 2,808 of those bases code for the protein.
How a genome test reads ARMC5
12
positions in ARMC5 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 7.7 kb of ARMC5, introns included, not only the 3.1 kb of exons.
Traits linked to ARMC5
The Human Phenotype Ontology lists these as features of the rare conditions ARMC5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Decreased circulating ACTH concentration
- Macronodular adrenal hyperplasia
- Increased circulating cortisol level
- Abnormal response to corticotropin releasing hormone stimulation test
- Paradoxical increased cortisol secretion on dexamethasone suppression test
- Elevated plasma aldosterone
- Neuroendocrine neoplasm
- Noncancerous tumor in pituitary gland
Show 1 more trait
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.). ARMC5 gene: armadillo repeat containing 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/armc5
Dante Labs. ARMC5 gene: armadillo repeat containing 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/armc5
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