STARD13

Chr 13

StAR related lipid transfer domain containing 13

Also known as: ARHGAP37, DLC2, GT650, LINC00464

NCBI Gene: 90627ENSG00000133121UniProt: Q9Y3M8OMIM: 609866

This protein functions as a GTPase-activating protein for RhoA and possibly Cdc42, regulating cytoskeletal reorganization, cell proliferation, and cell motility. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures. The gene is moderately constrained against loss-of-function variants (LOEUF 0.641), consistent with recessive inheritance where biallelic mutations are required for disease.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.64
Clinical Summary— STARD13
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
45 unique Pathogenic / Likely Pathogenic· 149 VUS of 232 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.64LOEUF
pLI 0.000
Z-score 3.53
OE 0.45 (0.32–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.26Z-score
OE missense 0.97 (0.91–1.04)
624 obs / 642.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.32–0.64)
0≤0.351.4
Missense OE0.97 (0.91–1.04)
0≤0.61.4
Synonymous OE1.17
0≤1.21.6
LoF obs/exp: 21 / 47.2Missense obs/exp: 624 / 642.2Syn Z: -2.15
DN
0.6649th %ile
GOF
0.6247th %ile
LOF
0.3841th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

232 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic45
VUS149
Likely Benign14
Benign9
45
Pathogenic
149
VUS
14
Likely Benign
9
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
45
0
45
Likely Pathogenic
0
0
0
0
0
VUS
0
144
5
0
149
Likely Benign
0
8
0
6
14
Benign
0
0
0
9
9
Total01525015217

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

View in ClinVar →

Protein Context — Lollipop Plot

STARD13 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients