CD300A

Chr 17

CD300a molecule

Also known as: CLM-8, CMRF-35-H9, CMRF-35H, CMRF35-H, CMRF35-H9, CMRF35H, CMRF35H9, IGSF12

NCBI Gene: 11314ENSG00000167851UniProt: Q9UGN4

The protein is an inhibitory receptor that down-regulates cytolytic activity in natural killer cells, inhibits mast cell degranulation, and negatively regulates Toll-like receptor signaling through PTPN6 activation. Based on the provided information, no specific diseases associated with CD300A mutations have been identified. The predicted dominant-negative mechanism suggests mutations would follow an autosomal dominant inheritance pattern.

Summary from RefSeq, UniProt, Mechanism
0
Active trials
19
Pubs (1 yr)
12
P/LP submissions
0%
P/LP missense
1.22
LOEUF
DN
Mechanism· predicted
Clinical Summary— CD300A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 unique Pathogenic / Likely Pathogenic· 42 VUS of 83 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.22LOEUF
pLI 0.000
Z-score 0.94
OE 0.74 (0.46–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.23Z-score
OE missense 0.95 (0.83–1.08)
157 obs / 165.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.74 (0.46–1.22)
0≤0.351.4
Missense OE0.95 (0.83–1.08)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 11 / 14.9Missense obs/exp: 157 / 165.3Syn Z: 0.49
DN
0.84top 10%
GOF
0.77top 25%
LOF
0.1697th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction 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

83 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS42
Likely Benign14
Benign4
Conflicting1
11
Pathogenic
1
Likely Pathogenic
42
VUS
14
Likely Benign
4
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
1
0
1
VUS
0
42
0
0
42
Likely Benign
0
6
6
2
14
Benign
0
0
4
0
4
Conflicting
—1
Total04822273

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

View in ClinVar →

Protein Context — Lollipop Plot

CD300A · protein map & ClinVar variants

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

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
CD300a Immunoreceptor Blocking Attenuates Neuronal Apoptosis by Regulating Efferocytosis and Promotes Hindlimb Functional Recovery after Acute Spinal Cord Injury in Mice.
Okuwaki S et al.·J Neurotrauma
2026Functional
Efferocytosis-linked genetic signature predicts rheumatoid arthritis risk and highlights CD300A as a novel target.
Fei H et al.·Immunol Lett
2026
Correction: Peng, J.-M.; Liu, H.-Y. CD300a: An Innate Immune Checkpoint Shaping Tumor Immunity and Therapeutic Opportunity. Cancers 2025, 17, 1786.
Peng JM et al.·Cancers (Basel)
2025Open Access
Evolutionary analysis of CD300A and CD300C paired receptors in primates.
Dias C et al.·Front Immunol
2025Open Access
Immunoreceptor CD300a regulates ischemic tissue damage and adverse remodeling in the mouse heart and kidney.
Nishiyama N et al.·J Clin Invest
2025Open AccessFunctional
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