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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEACAM16
CEA cell adhesion molecule 16, tectorial membrane component
Chromosome 19 Β· 19q13.31-q13.32
NCBI Gene: 388551Ensembl: ENSG00000213892.12HGNC: HGNC:31948UniProt: Q2WEN9
10PubMed Papers
22Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sensory perception of soundidentical protein bindingGO:0005615stereocilium tipautosomal dominant nonsyndromic hearing losshearing loss, autosomal recessivenonsyndromic genetic hearing lossNon-syndromic genetic deafness
✦AI Summary

CEACAM16 is a tectorial membrane protein essential for normal auditory function. Primary function: CEACAM16 is a secreted glycoprotein component of the tectorial membrane (TM), the extracellular structure overlying the organ of Corti in the inner ear 1. Mechanism: CEACAM16 interacts with both Ξ±-tectorin (TECTA) and Ξ²-tectorin (TECTB) to stabilize their interactions and support development of the striated-sheet matrix within the TM 1. Loss of CEACAM16 results in reduced TECTB levels, absent Hensen's stripe formation, and altered cochlear mechanics, paradoxically enhancing otoacoustic emissions and causing spontaneous otoacoustic emissions in 70% of knockout mice 1. Disease relevance: Loss-of-function mutations in CEACAM16 cause postlingual progressive hearing loss through defective TM structure 2. Pathogenic variants include splice-altering mutations causing exon skipping and frameshift errors 2, missense mutations impairing protein secretion 3, and de novo mutations affecting conserved domains 4. Clinical significance: CEACAM16 mutations cause autosomal dominant nonsyndromic hearing loss DFNA4B 5 and autosomal recessive deafness 113 2. Affected individuals typically develop late-onset, high-frequency hearing loss beginning in childhood to early adulthood, progressing slowly with age 5.

Sources cited
1
CEACAM16 is a secreted tectorial membrane glycoprotein that interacts with TECTA and TECTB to maintain TM structure and hearing function
PMID: 25080593
2
Loss-of-function CEACAM16 mutations cause postlingual progressive hearing impairment through splice-altering variants
PMID: 29703829
3
Missense mutations in CEACAM16 impair protein secretion and cause autosomal dominant nonsyndromic hearing loss DFNA4B
PMID: 25589040
4
De novo mutations in CEACAM16 affecting conserved N2 domain cause postlingual hearing impairment
PMID: 26648831
5
CEACAM16-associated DFNA4B presents as late-onset, slowly progressive, high-frequency hearing loss starting in childhood
PMID: 39157884
Disease Associationsβ“˜22
autosomal dominant nonsyndromic hearing lossOpen Targets
0.63Moderate
hearing loss, autosomal recessiveOpen Targets
0.61Moderate
nonsyndromic genetic hearing lossOpen Targets
0.52Moderate
Non-syndromic genetic deafnessOpen Targets
0.42Moderate
deafnessOpen Targets
0.36Weak
Sensorineural hearing impairmentOpen Targets
0.33Weak
hearing lossOpen Targets
0.28Weak
Abnormality of the earOpen Targets
0.27Weak
ear malformationOpen Targets
0.27Weak
Rare genetic deafnessOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Hearing impairmentOpen Targets
0.16Weak
Abnormal thrombosisOpen Targets
0.15Weak
respiratory system diseaseOpen Targets
0.15Weak
allergic diseaseOpen Targets
0.14Weak
deep vein thrombosisOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.07Suggestive
asthmaOpen Targets
0.06Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.06Suggestive
Deafness, autosomal dominant, 4BUniProt
Deafness, autosomal recessive, 113UniProt
Pathogenic Variants14
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser)Likely pathogenic
Hearing loss, autosomal recessive 113
β˜…β˜†β˜†β˜†2025β†’ Residue 13
NM_001039213.4(CEACAM16):c.380A>G (p.His127Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 127
NM_001039213.4(CEACAM16):c.325C>T (p.Gln109Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 109
NM_001039213.4(CEACAM16):c.727_730dup (p.Phe244Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 244
NM_001039213.4(CEACAM16):c.859del (p.Gln287fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 287
NM_001039213.4(CEACAM16):c.1203C>A (p.Tyr401Ter)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 4B;Hearing loss, autosomal recessive 113
β˜…β˜†β˜†β˜†2022β†’ Residue 401
NM_001039213.4(CEACAM16):c.703dup (p.Arg235fs)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 4B
β˜…β˜†β˜†β˜†2021β†’ Residue 235
NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)Likely pathogenic
Ear malformation
β˜…β˜†β˜†β˜†2021β†’ Residue 153
NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)Likely pathogenic
Nonsyndromic genetic hearing loss
β˜…β˜†β˜†β˜†2019β†’ Residue 375
NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala)Likely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2016β†’ Residue 396
NM_001039213.4(CEACAM16):c.662-1G>CPathogenic
Hearing loss, autosomal recessive 113
β˜…β˜†β˜†β˜†
NM_001039213.4(CEACAM16):c.763A>G (p.Arg255Gly)Pathogenic
Autosomal dominant nonsyndromic hearing loss 4B
β˜†β˜†β˜†β˜†2020β†’ Residue 255
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg)Pathogenic
Autosomal dominant nonsyndromic hearing loss 4B
β˜†β˜†β˜†β˜†2019β†’ Residue 169
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro)Pathogenic
Autosomal dominant nonsyndromic hearing loss 4B
β˜†β˜†β˜†β˜†2011β†’ Residue 140
View on ClinVar β†—
Related Genes
ZNF354AShared pathway100%LRIG2Shared pathway100%LRIG1Shared pathway100%CLRN3Shared pathway100%LRIG3Shared pathway100%LOXHD1Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
18%
Heart
0%
Bone Marrow
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
CEACAM16ZNF354ALRIG2LRIG1CLRN3LRIG3LOXHD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q2WEN9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.63–1.14]
RankingsWhere CEACAM16 stands among ~20K protein-coding genes
  • #17,019of 20,598
    Most Researched10
  • #2,549of 5,498
    Most Pathogenic Variants14
  • #11,822of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCEACAM16
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The old CEACAMs find their new role in tumor immunotherapy.
PMID: 32488569
Invest New Drugs Β· 2020
1.00
2
Old gene, new phenotype: splice-altering variants in
PMID: 29703829
J Med Genet Β· 2018
0.90
3
Loss of the tectorial membrane protein CEACAM16 enhances spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions.
PMID: 25080593
J Neurosci Β· 2014
0.80
4
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
PMID: 39157884
J Int Adv Otol Β· 2024
0.70
5
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
PMID: 25589040
J Hum Genet Β· 2015
0.60