CD302

Chr 2

CD302 molecule

Also known as: BIMLEC, CLEC13A, DCL-1, DCL1

NCBI Gene: 9936 ENSG00000241399 UniProt: Q8IX05 OMIM: 612246

CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]

OMIM Research

CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.49

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.49LOEUF

pLI 0.000

Z-score 0.41

OE 0.86 (0.52–1.49)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.11Z-score

OE missense 1.03 (0.89–1.20)

117 obs / 113.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.86 (0.52–1.49)

0≤0.351.4

Missense OE?1.03 (0.89–1.20)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 9 / 10.4Missense obs/exp: 117 / 113.7Syn Z: 0.78

Background carrier burden — how many people carry a rare variant somewhere in CD302?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

316 rare PASS variants

Rare truncating (LoF)

1 in 1,000

84 rare PASS variants

Rare synonymous (reference)

1 in 730

95 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CD302; this gene does not show strong loss-of-function constraint by this measure. 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 260	1 in 1,400
South Asian	~43k	1 in 200	1 in 1,700
Remaining (unassigned)	~30k	1 in 220	1 in 790
European (Finnish)	~27k	1 in 680	≈ 1 in 13,000
Admixed American	~22k	1 in 190	1 in 990
African / African American	~21k	1 in 260	1 in 1,500
East Asian	~20k	1 in 200	1 in 1,200
Ashkenazi Jewish	~13k	1 in 470	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 210	1 in 480

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 6 coding exons well covered in gnomAD exomes; exon 5 poorly covered; exon 1 marginal. Genomes: all 6.? see exons ↓