SEC23IP

Chr 10

SEC23 interacting protein

Also known as: MSTP053, P125, P125A, iPLA1A, iPLA1beta

NCBI Gene: 11196ENSG00000107651UniProt: Q9Y6Y8

This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 4.36
OE 0.35 (0.24–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.60Z-score
OE missense 0.93 (0.86–1.00)
503 obs / 542.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.24–0.51)
0≤0.351.4
Missense OE?0.93 (0.86–1.00)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 18 / 51.9Missense obs/exp: 503 / 542.3Syn Z: 1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SEC23IP · 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