CD300LB
Chr 17CD300 molecule like family member b
Also known as: CD300b, CLM-7, CLM7, CMRF35-A2, IREM-3, IREM3, TREM-5, TREM5
CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008]
Clinical Summary— CD300LB
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
12 Pathogenic / Likely Pathogenic· 26 VUS of 57 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
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.
1.62LOEUF
pLI 0.000
Z-score 0.02
OE 1.00 (0.63–1.62)
Highly tolerant — LoF variants common in population
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.
0.59Z-score
OE missense 0.86 (0.73–1.00)
115 obs / 134.4 exp
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.1.00 (0.63–1.62)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.73–1.00)
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.1.07
0≤1.21.6
LoF obs/exp: 11 / 11.1Missense obs/exp: 115 / 134.4Syn Z: -0.41
ClinVar Variant Classifications
57 submitted variants in ClinVar
Classification Summary
Pathogenic11
Likely Pathogenic1
VUS26
Likely Benign14
Benign4
Conflicting1
11
Pathogenic
1
Likely Pathogenic
26
VUS
14
Likely Benign
4
Benign
1
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 11 | 0 | 11 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 23 | 3 | 0 | 26 |
Likely Benign | 0 | 5 | 7 | 2 | 14 |
Benign | 0 | 0 | 4 | 0 | 4 |
Conflicting | — | 1 | |||
| Total | 0 | 28 | 26 | 2 | 57 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CD300LB · 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
CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB
MIM #610705 · *
External Resources
Links to major genomics databases and tools
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
DNA methylation and mRNA and microRNA expression of SLE CD4+ T cells correlate with disease phenotype.
Zhao M et al.·J Autoimmun
2014
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of hub genes and biological mechanisms underlying the pathogenesis of asthenozoospermia and chronic epididymitis
Chen Y et al.·Front Genet
2023Functional
Identification of key genes and immune infiltration of diabetic peripheral neuropathy in mice and humans based on bioinformatics analysis
Zhang Y et al.·Front Endocrinol (Lausanne)
2024
Deciphering Immune-Related Gene Signatures in Diabetic Retinopathy: Insights from In Silico Analysis and In vitro Experiment.
Xia N et al.·Curr Pharm Biotechnol
2024
Clonal Hematopoiesis-Driver DNMT3A Mutations Alter Immune Cells in Heart Failure.
Abplanalp WT et al.·Circ Res
2021
Pan-cancer analysis identifies CD300 molecules as potential immune regulators and promising therapeutic targets in acute myeloid leukemia
Xu ZJ et al.·Cancer Med
2023
IL1A regulates the inflammation in gout through the Toll-like receptors pathway
Ling M et al.·Int J Med Sci
2024
Integrated Single-Trait and Multi-Trait GWASs Reveal the Genetic Architecture of Internal Organ Weight in Pigs
Li X et al.·Animals (Basel)
2023
An Uncharacterised lncRNA Coded by the ASAP1 Locus Is Downregulated in Serum of Type 2 Diabetes Mellitus Patients
Barbagallo C et al.·Int J Mol Sci
2023Cohort
Multi-Ancestry Epigenome-Wide Association Study of Asthma Exacerbations
Martin-Gonzalez E et al.·Allergy
2025
Transcriptome profiling of peripheral blood mononuclear cells from highly susceptible adult cattle infected with a virulent strain of Babesia bovis
Capelli-Peixoto J et al.·Parasit Vectors
2025
Top 10 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools