SPSB2

Chr 12

splA/ryanodine receptor domain and SOCS box containing 2

Also known as: GRCC9, SSB2

This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.021
Z-score 1.58
OE 0.44 (0.211.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.61Z-score
OE missense 1.14 (1.011.29)
172 obs / 150.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.44 (0.211.00)
00.351.4
Missense OE?1.14 (1.011.29)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 4 / 9.1Missense obs/exp: 172 / 150.9Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPSB2 · 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.

Search ClinicalTrials.gov →