IGSF8

Chr 1

immunoglobulin superfamily member 8

Also known as: CD316, CD81P3, EWI-2, EWI2, KCT-4, LIR-D1, PGRL

This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…
1
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
LOEUF
Multiple*
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?
1.05LOEUF
pLI 0.000
Z-score 1.35
OE 0.72 (0.511.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.94 (0.861.02)
377 obs / 401.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.511.05)
00.351.4
Missense OE?0.94 (0.861.02)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 20 / 27.6Missense obs/exp: 377 / 401.7Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IGSF8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.