STARD7
protein-codingStAR related lipid transfer domain containing 7, the group of StAR related lipid transfer domain containing
Gene summary
Enables phosphatidylcholine transfer activity. Involved in intermembrane phospholipid transfer; mitochondrial membrane organization; and regulation of cellular respiration. Located in cytosol; mitochondrial intermembrane space; and mitochondrial outer membrane. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0011930
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Neurologic
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to STARD7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020151.4. 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 | 4 | 4 | ||||
| missense | 54 | 4 | 58 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 57 | 8 | 0 | 65 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_064536.2 | 8 | MANE Select | |
| Ensembl | ENSP00000338030.5 | 8 | MANE Select | |
| RefSeq | NP_001372551.1 | 7 | Standard | |
| Ensembl | ENSP00000409410.1 | 4 | 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
Molecular Function
- phospholipid transporter activity
- lipid binding
Cellular Component
- mitochondrial outer membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000337288
- Coding exons
- 8
- Length
- 23967
- Individuals with no LoFs
- 125584
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 9
- Defined
- 125593
- p
- 0.0000358
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.958 | 177 | 217 | 0.817 | 0.0000120 | 2392 |
| Missense (PolyPhen) | 50 | 74.265 | 0.67326 | 804 | ||
| Synonymous | -0.945 | 88 | 77.4 | 1.14 | 0.00000382 | 700 |
| Loss of Function | 3.17 | 4 | 18.9 | 0.212 | 8.87e-7 | 222 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000045 | 0.000044 | rare |
| South Asian | 0.000098 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a protective role in mucosal tissues by preventing exaggerated allergic responses. {ECO:0000250|UniProtKB:Q8R1R3}.;
Recessive Scores
- pRec
- 0.119
Intolerance Scores
- LoFtool
- 0.422
- RVIS EVS
- -0.05
- RVIS percentile EVS
- 50.01
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- H
- Indispensability pred.
- N
- Indispensability score
- 0.419
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |