SCG2

Chr 2

secretogranin II

Also known as: CHGC, EM66, SN, SgII

The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFamilial multiple endocrine neoplasia type I
0
Active trials
33
Pubs (1 yr)
P/LP submissions
P/LP missense
0.85
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.07
OE 0.52 (0.320.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.08Z-score
OE missense 1.01 (0.921.11)
320 obs / 316.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.52 (0.320.85)
00.351.4
Missense OE?1.01 (0.921.11)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 11 / 21.3Missense obs/exp: 320 / 316.2Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCG2 · 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

No active trials found for this gene.

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