CD5L

Chr 1

CD5 molecule like

Also known as: AIM, API6, CT-2, PRO229, SP-ALPHA, Spalpha, hAIM

NCBI Gene: 922ENSG00000073754UniProt: O43866

Predicted to be involved in cellular defense response. Predicted to act upstream of or within positive regulation of complement-dependent cytotoxicity and regulation of complement activation. Located in cell surface. [provided by Alliance of Genome Resources, Jul 2025]

62
ClinVar variants
9
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CD5L
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 Pathogenic / Likely Pathogenic· 49 VUS of 62 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.67LOEUF
pLI 0.000
Z-score -0.75
OE 1.18 (0.85–1.67)
Tolerant

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.
0.06Z-score
OE missense 0.99 (0.88–1.11)
200 obs / 202.4 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.1.18 (0.85–1.67)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.88–1.11)
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.1.08
0≤1.21.6
LoF obs/exp: 23 / 19.4Missense obs/exp: 200 / 202.4Syn Z: -0.54

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic1
VUS49
Likely Benign2
8
Pathogenic
1
Likely Pathogenic
49
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
1
0
1
VUS
0
44
5
0
49
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total04614060

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

View in ClinVar →

Protein Context — Lollipop Plot

CD5L · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis.
Lin J et al.·Brain
2023
Macrophage CD5L is a target for cancer immunotherapy.
Sanchez-Moral L et al.·EBioMedicine
2023
Single-Cell Genomics Unveils Critical Regulators of Th17 Cell Pathogenicity.
Gaublomme JT et al.·Cell
2015
Limited Proteolysis-Mass Spectrometry Reveals Aging-Associated Changes in Cerebrospinal Fluid Protein Abundances and Structures.
Shuken SR et al.·Nat Aging
2022
Overcoming adaptive resistance to anti-VEGF therapy by targeting CD5L.
LaFargue CJ et al.·Nat Commun
2023
Hypoxic migrasomes drive colorectal cancer liver metastasis by mediating CD5L(+) macrophage efferocytosis via NRP2/PROX1 axis.
Luo Y et al.·J Transl Med
2025
CD5L Promotes M2 Macrophage Polarization through Autophagy-Mediated Upregulation of ID3.
Sanjurjo L et al.·Front Immunol
2018
CD5L/AIM Regulates Lipid Biosynthesis and Restrains Th17 Cell Pathogenicity.
Wang C et al.·Cell
2015
Molecular control of pathogenic Th17 cells in autoimmune diseases.
Wu B et al.·Int Immunopharmacol
2020Review
Serum CD5L predicts acute lung parenchymal injury and acute respiratory distress syndrome in trauma patients.
Cheng Q et al.·Medicine (Baltimore)
2021Cohort
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