CEMIP

Chr 15

cell migration inducing hyaluronidase 1

Also known as: CCSP1, CEMIP1, HYBID, KIAA1199, TMEM2L

NCBI Gene: 57214 ENSG00000103888 UniProt: Q8WUJ3 OMIM: 608366

The protein mediates depolymerization of hyaluronic acid through clathrin-coated pit endocytosis and is involved in hyaluronan catabolism in skin and synovium. Mutations cause autosomal recessive nonsyndromic hearing loss (DFNB84). The gene shows high constraint against loss-of-function variants, suggesting complete loss of protein function is not well tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of protein targeting to membrane. Located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Disputed · nonsyndromic genetic hearing loss · AR · ClinGen 2018

evidence questions this relationship

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CEMIP?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

1,574 rare PASS variants

Rare truncating (LoF)

1 in 1,300

197 rare PASS variants

Rare synonymous (reference)

1 in 43

713 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CEMIP. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 55	1 in 1,500
South Asian	~43k	1 in 36	1 in 3,300
Remaining (unassigned)	~30k	1 in 35	1 in 1,300
European (Finnish)	~27k	1 in 70	1 in 1,700
Admixed American	~22k	1 in 35	1 in 1,500
African / African American	~21k	1 in 33	1 in 950
East Asian	~20k	1 in 47	1 in 670
Ashkenazi Jewish	~13k	1 in 110	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 52	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.