SEC63

Chr 6

SEC63 protein translocation regulator

Also known as: DNAJC23, ERdj2, PCLD2, PRO2507, SEC63L

NCBI Gene: 11231ENSG00000025796UniProt: Q9UGP8

The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPolycystic liver disease 2 with or without kidney cysts

Clinical highlights

Gene-disease validity (ClinGen)
polycystic liver disease 2 · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
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?
0.57LOEUF
pLI 0.000
Z-score 4.07
OE 0.40 (0.28–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.20Z-score
OE missense 0.69 (0.62–0.76)
275 obs / 398.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.40 (0.28–0.57)
0≤0.351.4
Missense OE?0.69 (0.62–0.76)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 21 / 53.0Missense obs/exp: 275 / 398.6Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SEC63 · 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