STARD7

Chr 2AD

StAR related lipid transfer domain containing 7

Also known as: ADCME, BAFME2, FAME, FAME2, FCMTE2, GTT1

NCBI Gene: 56910ENSG00000084090UniProt: Q9NQZ5

Predicted to enable molecular carrier activity. Predicted to be involved in ubiquinone biosynthetic process. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in mitochondrion. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Apr 2025]

Primary Disease Associations & Inheritance

Epilepsy, familial adult myoclonic, 2MIM #607876
AD
128
ClinVar variants
33
Pathogenic / LP
0.47
pLI score
0
Active trials
Clinical Summary— STARD7
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
📋
ClinVar Variants
33 Pathogenic / Likely Pathogenic· 89 VUS of 128 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.48LOEUF
pLI 0.472
Z-score 3.17
OE 0.21 (0.10–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.96Z-score
OE missense 0.82 (0.72–0.93)
177 obs / 216.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.21 (0.10–0.48)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.82 (0.72–0.93)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.14
0≤1.21.6
LoF obs/exp: 4 / 18.9Missense obs/exp: 177 / 216.7Syn Z: -0.94

ClinVar Variant Classifications

128 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic10
VUS89
Likely Benign6
23
Pathogenic
10
Likely Pathogenic
89
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
10
0
10
VUS
1
54
34
0
89
Likely Benign
0
3
2
1
6
Benign
0
0
0
0
0
Total157691128

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

STARD7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Epilepsy, familial adult myoclonic, 2

MIM #607876

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
STARD7 maintains intestinal epithelial mitochondria architecture, barrier integrity, and protection from colitis.
Uddin J et al.·JCI Insight
2024
CircEGLN1 alleviates calcium oxalate-induced renal injury via miR-212-5p/STARD7 axis, offering a potential strategy for kidney stone prevention.
Zhong G et al.·Int J Biol Macromol
2025
[Molecular genetics of benign adult familial myoclonus epilepsy].
Ishiura H·Rinsho Shinkeigaku
2025Review
Identification of nuclear structural protein alterations associated with seminomas.
Leman ES et al.·J Cell Biochem
2009
MicroRNAs associated with mitogen-activated protein kinase in human pancreatic cancer.
Ikeda Y et al.·Mol Cancer Res
2012
Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Urabe H et al.·BMC Med Genomics
2025Case report
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A et al.·J Hum Genet
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools