BICDL2

Chr 16

BICD family like cargo adaptor 2

Also known as: BICDR-2, BICDR2, CCDC64B

NCBI Gene: 146439 ENSG00000162069 UniProt: A1A5D9 OMIM: 617003

The protein is predicted to bind small GTPases and transport vesicles along microtubules from the Golgi to secretory granules. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that mutations would likely cause severe developmental disorders, though specific disease associations have not yet been established. The inheritance pattern for potential BICDL2-related disorders has not been determined.

OMIM ResearchSummary from RefSeq

Predicted to enable small GTPase binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 1.07

OE 0.78 (0.55–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.51Z-score

OE missense 1.08 (0.99–1.19)

312 obs / 287.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.78 (0.55–1.12)

0≤0.351.4

Missense OE?1.08 (0.99–1.19)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 21 / 27.0Missense obs/exp: 312 / 287.6Syn Z: 0.03

Background carrier burden — how many people carry a rare variant somewhere in BICDL2?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

908 rare PASS variants

Rare truncating (LoF)

1 in 650

177 rare PASS variants

Rare synonymous (reference)

1 in 190

399 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BICDL2. 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 84	1 in 980
South Asian	~43k	1 in 48	1 in 240
Remaining (unassigned)	~30k	1 in 44	1 in 480
European (Finnish)	~26k	1 in 190	1 in 620
Admixed American	~22k	1 in 43	1 in 680
African / African American	~21k	1 in 35	1 in 230
East Asian	~20k	1 in 44	1 in 740
Ashkenazi Jewish	~13k	1 in 110	≈ 1 in 6,400
Middle Eastern	~2,884	1 in 50	1 in 290

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): 8 of 9 coding exons well covered in gnomAD exomes; exon 10 marginal. Genomes: all 9.? see exons ↓