CEACAM16
Carcinoembryonic Antigen Related Cell Adhesion Molecule 16
Gene Information Card
| Symbol | CEACAM16 |
|---|---|
| Full Name | Carcinoembryonic Antigen Related Cell Adhesion Molecule 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 388931 ncbi.nlm.nih.gov/gene/388931 |
| Ensembl ID | ENSG00000171314 |
| UniProt ID | Q2WEN9 |
| OMIM ID | 614591 |
| HGNC ID | 26699 |
| Aliases | CEAL2, CEACAM16-AS |
Description
CEACAM16 encodes a member of the carcinoembryonic antigen (CEA) family of cell adhesion molecules. The protein is specifically expressed in the inner ear, particularly in the tectorial membrane, and is essential for normal hearing. Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 4 (DFNA4) | Missense or frameshift mutations disrupt protein function in the tectorial membrane, impairing sound transduction. | PMID: 21520333, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Inner ear (cochlea) | Not available | High |
| Testis | 0.3 | Low |
| Thyroid | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Not available | Low expression in recombinant systems |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | Rare | Dominant negative effect on protein function |
| c.463delG (p.Glu155Lysfs*5) | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations lead to truncated protein and loss of function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Thr166Met) exert dominant negative effects by disrupting protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • protein homodimerization activity |
| • extracellular region | • inner ear morphogenesis |
Pathways
• Cell adhesion molecules (CAMs)
• Hearing loss pathways
Protein Summary
CEACAM16 is a glycosylphosphatidylinositol (GPI)-anchored cell surface protein belonging to the CEA family. It is expressed in the tectorial membrane of the cochlea and mediates cell-cell adhesion essential for auditory function. The protein contains immunoglobulin-like domains and is involved in maintaining the structural integrity of the tectorial membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEACAM16 Knockout HEK293 Cell Line | EDJ-KQ12852 | Human | 388551 | Details Get a Quote |
| CEACAM16 Knockout HeLa Cell Line | EDJ-KQ60031 | Human | 388551 | Details Get a Quote |
| CEACAM16 Knockout A-549 Cell Line | EDJ-KQ68492 | Human | 388551 | Details Get a Quote |
| CEACAM16 Knockout HCT 116 Cell Line | EDJ-KQ76870 | Human | 388551 | Details Get a Quote |
