AtlasGene
ABHD5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
- HGNC 21396↗(opens in a new tab)
- Ensembl gene ENSG00000011198↗(opens in a new tab)
- NCBI Gene 51099↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.33
- Coordinates
- Chromosome 3: 43,690,938–43,722,725 (GRCh38)
- Exons
- 7 exons across 31.8 kb
- Protein
- 349 amino acids
- Also known as
- CGI-58, NCIE2
- MANE Select transcript
- ENST00000644371.2NM_016006.6
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Lysosomal Storage Disease
- Lysosomal storage disease (other and unspecified types)
One of 59 genes linked to it
Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How ABHD5 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 5.3 kb of the gene's 31.8 kb; 1,050 of those bases code for the protein.
Sequencing ABHD5
11
positions in ABHD5 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 31.8 kb of ABHD5, introns included, not only the 5.3 kb of exons.
ClinVar pathogenic variants (11)
The ABHD5 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 6
- Likely pathogenic 5
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.700C>T (p.Arg234Ter) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) (opens in a new tab) | Dorfman-Chanarin disease | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NC_000003.12:g.43688574_43691430del (opens in a new tab) | Dorfman-Chanarin disease | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.345T>A (p.Ser115Arg) (opens in a new tab) | Dorfman-Chanarin disease | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.683dup (p.Leu228fs) (opens in a new tab) | Dorfman-Chanarin disease | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.730dup (p.Thr244fs) (opens in a new tab) | Dorfman-Chanarin disease | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_016006.6(ABHD5):c.838C>T (p.Arg280Ter) (opens in a new tab) | Dorfman-Chanarin disease | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Genes linked to the same conditions
- AGAaspartylglucosaminidaseShares 1 condition
- AP5Z1adaptor related protein complex 5 subunit zeta 1Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ARSBarylsulfatase BShares 1 condition
- ARSKarylsulfatase family member KShares 1 condition
- ASAH1N-acylsphingosine amidohydrolase 1Shares 1 condition
- CLCN6Cl-/H+ antiporter 6Shares 1 condition
- CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninShares 1 condition
- CLN5CLN5 lysosomal BMP synthaseShares 1 condition
- CLN6CLN6 transmembrane ER proteinShares 1 condition
- CLN8CLN8 transmembrane ER and ERGIC proteinShares 1 condition
- CTNScystinosin, lysosomal cystine transporterShares 1 condition
Traits linked to ABHD5
The Human Phenotype Ontology lists these as features of the rare conditions ABHD5 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 2026-10-18: 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 2026.10.18-8b139e39.
Cite this page
Dante Labs. (n.d.). ABHD5 gene: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase. Retrieved 18 October 2026, from https://dantelabs.com/genes/abhd5
Dante Labs. ABHD5 gene: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/abhd5
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