SMAP1

Chr 6

small ArfGAP 1

ENSG00000112305UniProt: Q8IYB5OMIM: 611372

This gene encodes a GTPase activating protein that regulates ARF6 and participates in clathrin-dependent endocytosis, with potential roles in erythropoiesis. The gene is highly constrained against loss-of-function variants (pLI = 0.99, LOEUF = 0.26), but no established Mendelian disease associations have been reported to date.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.26
Clinical Summary— SMAP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.26LOEUF
pLI 0.994
Z-score 4.15
OE 0.08 (0.03–0.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.10Z-score
OE missense 0.80 (0.71–0.90)
193 obs / 240.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.08 (0.03–0.26)
0≤0.351.4
Missense OE0.80 (0.71–0.90)
0≤0.61.4
Synonymous OE1.06
0≤1.21.6
LoF obs/exp: 2 / 23.8Missense obs/exp: 193 / 240.9Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMAP1 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
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