SEC16B

Chr 1

SEC16 homolog B, endoplasmic reticulum export factor

Also known as: LZTR2, PGPR-p117, RGPR, RGPR-p117, SEC16S

NCBI Gene: 89866ENSG00000120341UniProt: Q96JE7OMIM: 612855

SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.80
OE 0.75 (0.60–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.35Z-score
OE missense 0.96 (0.89–1.03)
546 obs / 569.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.75 (0.60–0.96)
0≤0.351.4
Missense OE?0.96 (0.89–1.03)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 47 / 62.3Missense obs/exp: 546 / 569.6Syn Z: 1.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SEC16B · 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.

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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