DOC2B

Chr 17

double C2 domain beta

Also known as: DOC2BL

NCBI Gene: 8447ENSG00000272636UniProt: Q14184

There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
Multiple*
Mechanism· predicted
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?
1.06LOEUF
pLI 0.017
Z-score 1.45
OE 0.47 (0.23–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.67Z-score
OE missense 0.58 (0.47–0.70)
71 obs / 123.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.23–1.06)
0≤0.351.4
Missense OE?0.58 (0.47–0.70)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 4 / 8.6Missense obs/exp: 71 / 123.3Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DOC2B · 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