SUN2

Chr 22

Sad1 and UNC84 domain containing 2

Also known as: UNC84B, rab5IP

SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
23
Pubs (1 yr)
P/LP submissions
P/LP missense
0.65
LOEUF
DN
Mechanism· predicted
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GeneReview available — SUN2
Authoritative clinical overview · Recommended first read
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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?
0.65LOEUF
pLI 0.000
Z-score 3.48
OE 0.45 (0.320.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.95Z-score
OE missense 0.88 (0.810.95)
410 obs / 467.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.320.65)
00.351.4
Missense OE?0.88 (0.810.95)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 21 / 46.7Missense obs/exp: 410 / 467.5Syn Z: 1.53

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

SUN2 · 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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