SSR3

Chr 3

signal sequence receptor subunit 3

Also known as: TRAPG

NCBI Gene: 6747 ENSG00000114850 UniProt: Q9UNL2 OMIM: 606213

The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.53

Clinical Summary— SSR3

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.75) — some intolerance to loss-of-function variants.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 25 VUS of 51 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.53LOEUF

pLI 0.747

Z-score 2.45

OE 0.11 (0.04–0.53)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.77Z-score

OE missense 0.78 (0.65–0.94)

75 obs / 96.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.53)

0≤0.351.4

Missense OE?0.78 (0.65–0.94)

0≤0.61.4

Synonymous OE?1.21

0≤1.21.6

LoF obs/exp: 1 / 8.9Missense obs/exp: 75 / 96.3Syn Z: -1.01

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS25

Likely Benign13

Benign6

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	1	0	0	0	1
VUS	1	24	0	0	25
Likely Benign	0	0	5	8	13
Benign	0	0	3	3	6
Total	2	24	8	11	45

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

18 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap SSR3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →