SSR2

Chr 1

signal sequence receptor subunit 2

Also known as: HSD25, TLAP, TRAP-BETA, TRAPB

NCBI Gene: 6746ENSG00000163479UniProt: P43308OMIM: 600867

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating 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
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.215
Z-score 2.29
OE 0.26 (0.12–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.95Z-score
OE missense 0.74 (0.61–0.89)
77 obs / 104.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.12–0.68)
0≤0.351.4
Missense OE?0.74 (0.61–0.89)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 3 / 11.3Missense obs/exp: 77 / 104.1Syn Z: 1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SSR2 · 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