SEC23B

Chr 20

SEC23 homolog B, COPII component

Also known as: CDA-II, CDAII, CDAN2, CWS7, HEMPAS, hSec23B

NCBI Gene: 10483ENSG00000101310UniProt: Q15437

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCowden syndrome 7
UniProtAnemia, congenital dyserythropoietic, 2

Clinical highlights

Gene-disease validity (ClinGen)
congenital dyserythropoietic anemia type 2 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· G2P
📖
GeneReview available — SEC23B
Authoritative clinical overview · Recommended first read
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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?
0.98LOEUF
pLI 0.000
Z-score 1.68
OE 0.74 (0.57–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.47Z-score
OE missense 0.93 (0.86–1.02)
390 obs / 417.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.57–0.98)
0≤0.351.4
Missense OE?0.93 (0.86–1.02)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 37 / 49.8Missense obs/exp: 390 / 417.2Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SEC23B · 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