STARD10
protein-codingStAR related lipid transfer domain containing 10, the group of StAR related lipid transfer domain containing
Gene summary
Predicted to enable lipid carrier activity and phosphatidylcholine binding activity. Predicted to be involved in phosphatidylcholine biosynthetic process. Predicted to act upstream of or within bile acid secretion and positive regulation of peroxisome proliferator activated receptor signaling pathway. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]
- SDCCAG28
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~39.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to STARD10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006645.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 41 | 41 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 44 | 0 | 1 | 45 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006636.2 | 6 | MANE Select | |
| Ensembl | ENSP00000335247.6 | 6 | MANE Select | |
| Ensembl | ENSP00000444027.1 | 2 | Standard | |
| Ensembl | ENSP00000440924.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Metabolism of lipids
- Metabolism
- Synthesis of PC
- Glycerophospholipid biosynthesis
- Phospholipid metabolism
Biological Process
- phosphatidylcholine biosynthetic process
- phospholipid transport
- bile acid secretion
- positive regulation of peroxisome proliferator activated receptor signaling pathway
Molecular Function
- protein binding
- phospholipid transporter activity
- lipid binding
Cellular Component
- cytosol
- microvillus
- membrane
- motile cilium
- intercellular canaliculus
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000334805
- Coding exons
- 6
- Length
- 38953
- Individuals with no LoFs
- 124857
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 32
- Defined
- 124889
- p
- 0.000128
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.34 | 144 | 197 | 0.732 | 0.0000130 | 1891 |
| Missense (PolyPhen) | 42 | 59.494 | 0.70595 | 553 | ||
| Synonymous | 0.223 | 84 | 86.6 | 0.970 | 0.00000646 | 560 |
| Loss of Function | 1.67 | 9 | 16.3 | 0.554 | 8.78e-7 | 169 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000056 | 0.000056 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00019 | 0.00019 | rare |
| South Asian | 0.00016 | 0.00016 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes. {ECO:0000250, ECO:0000269|PubMed:15911624}.;
Intolerance Scores
- LoFtool
- 0.458
- RVIS EVS
- -0.2
- RVIS percentile EVS
- 38.82
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.397
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |