LY75

Chr 2

lymphocyte antigen 75

Also known as: CD205, CLEC13B, DEC-205, GP200-MR6, LY-75

NCBI Gene: 4065 ENSG00000054219 UniProt: O60449

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in receptor-mediated endocytosis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.93LOEUF

pLI 0.000

Z-score 2.20

OE 0.77 (0.65–0.93)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.95–1.06)

963 obs / 961.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.77 (0.65–0.93)

0≤0.351.4

Missense OE?1.00 (0.95–1.06)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 84 / 108.7Missense obs/exp: 963 / 961.5Syn Z: 0.98

Background carrier burden — how many people carry a rare variant somewhere in LY75?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 33

2,079 rare PASS variants

Rare truncating (LoF)

1 in 250

382 rare PASS variants

Rare synonymous (reference)

1 in 67

711 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LY75. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 40	1 in 300
South Asian	~43k	1 in 29	1 in 180
Remaining (unassigned)	~30k	1 in 23	1 in 160
European (Finnish)	~27k	1 in 61	1 in 1,600
Admixed American	~22k	1 in 24	1 in 170
African / African American	~21k	1 in 25	1 in 350
East Asian	~20k	1 in 26	1 in 160
Ashkenazi Jewish	~13k	1 in 150	1 in 2,100
Middle Eastern	~2,884	1 in 21	1 in 260

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 34 of 35 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 35.? see exons ↓