Gene
ACP5
acid phosphatase 5, tartrate resistant
- HGNC 124↗(opens in a new tab)
- Ensembl gene ENSG00000102575↗(opens in a new tab)
- NCBI Gene 54↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.2
- Coordinates
- Chromosome 19: 11,574,660–11,577,645 (GRCh38)
- Exons
- 5 exons across 3 kb
- Protein
- 325 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- TRAP, HPAP, TRAcP
- MANE Select transcript
- ENST00000648477.1NM_001611.5
- 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
Rare Monogenic Autoinflammatory Diseases
- PTPN2-related autoinflammation and autoimmunityAutosomal dominant
Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.
- 3 GenCC submitters rate it definitive or strong
Type I Interferonopathies
- Spondyloenchondrodysplasia with immune dysregulationAutosomal recessive
A skeletal dysplasia with autoimmunity, such as lupus or low platelets, caused by variants in ACP5.
- 3 GenCC submitters rate it definitive or strong
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.
- 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 ACP5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 1.4 kb of the gene's 3 kb; 978 of those bases code for the protein.
How a genome test reads ACP5
31
positions in ACP5 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 3 kb of ACP5, introns included, not only the 1.4 kb of exons.
Genes linked to the same conditions
- ADA2adenosine deaminase 2Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- COPAcoat protein complex I subunit alphaShares 1 condition
- IFIH1interferon induced with helicase C domain 1Shares 1 condition
- POLA1DNA polymerase alpha 1, catalytic subunitShares 1 condition
- POMPproteasome maturation proteinShares 1 condition
- PSMB10proteasome 20S subunit beta 10Shares 1 condition
- PSMB8proteasome 20S subunit beta 8Shares 1 condition
- PSMB9proteasome 20S subunit beta 9Shares 1 condition
- PTPN2protein tyrosine phosphatase non-receptor type 2Shares 1 condition
- RIGIRNA sensor RIG-IShares 1 condition
- RNASEH2Aribonuclease H2 subunit AShares 1 condition
Traits linked to ACP5
The Human Phenotype Ontology lists these as features of the rare conditions ACP5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Flattened vertebrae
- Abnormal deposits of calcium in the brain
- Barrel-shaped chest
- Excessive inward curvature of lower spine
- Increased intervertebral space
- Involuntary muscle stiffness, contraction, or spasm
- Short pelvis bones
- Arthritis
Show 14 more traits
- Disproportionate short-trunked short stature
- Enchondroma
- Juvenile idiopathic arthritis
- Lower limb pain
- Scoliosis
- Small wings of the pelvic girdle
- Hunched back
- Pigeon chest
- Irregular vertebral endplates
- Kyphoscoliosis
- Progressive spastic quadriplegia
- Rheumatoid arthritis
- Spastic diplegia
- Spondylometaphyseal dysplasia
Abnormality of the nervous system
- Brain imaging abnormality
- Intellectual disability, mild
- Abnormal lateral ventricle morphology
- Abnormal periventricular white matter morphology
- Abnormality of the nervous system
- Chorea
- Global developmental delay
- Headache
Show 4 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.). ACP5 gene: acid phosphatase 5, tartrate resistant. Retrieved 16 October 2026, from https://dantelabs.com/genes/acp5
Dante Labs. ACP5 gene: acid phosphatase 5, tartrate resistant [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acp5
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