BLOC1S2

Chr 10

biogenesis of lysosomal organelles complex 1 subunit 2

Also known as: BLOS2, BORCS2, CEAP, CEAP11

NCBI Gene: 282991ENSG00000196072UniProt: Q6QNY1OMIM: 609768

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.18
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.012
Z-score 1.25
OE 0.52 (0.25–1.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.00Z-score
OE missense 0.67 (0.54–0.85)
50 obs / 74.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.25–1.18)
0≤0.351.4
Missense OE?0.67 (0.54–0.85)
0≤0.61.4
Synonymous OE?1.33
0≤1.21.6
LoF obs/exp: 4 / 7.8Missense obs/exp: 50 / 74.3Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BLOC1S2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients