CEMIP2

Chr 9

cell migration inducing hyaluronidase 2

Also known as: TMEM2

The protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into smaller fragments and has interferon-mediated antiviral activity. Mutations cause autosomal recessive non-syndromic hearing loss. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.644).

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.64
Clinical SummaryCEMIP2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.64LOEUF
pLI 0.000
Z-score 3.94
OE 0.48 (0.360.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.92Z-score
OE missense 0.91 (0.850.96)
698 obs / 769.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.48 (0.360.64)
00.351.4
Missense OE0.91 (0.850.96)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 32 / 66.7Missense obs/exp: 698 / 769.7Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CEMIP2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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