CEACAM16 (CEA cell adhesion molecule 16, tectorial membrane component)

Gene

• Entrez ID: 388551
• Gene name: CEA cell adhesion molecule 16, tectorial membrane component
• Gene symbol: CEACAM16
• Synonyms (NCBI Gene): CEAL2, DFNA4B, DFNB113
• Chromosome: 19
• Chromosome location: 19q13.31-q13.32
• Summary: The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over a

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT882920	hsa-miR-1827	CLIP-seq
MIRT882921	hsa-miR-326	CLIP-seq
MIRT882922	hsa-miR-330-5p	CLIP-seq
MIRT882923	hsa-miR-3612	CLIP-seq
MIRT882924	hsa-miR-378	CLIP-seq
MIRT882925	hsa-miR-378b	CLIP-seq
MIRT882926	hsa-miR-378c	CLIP-seq
MIRT882927	hsa-miR-378d	CLIP-seq
MIRT882928	hsa-miR-378e	CLIP-seq
MIRT882929	hsa-miR-378f	CLIP-seq
MIRT882930	hsa-miR-378h	CLIP-seq
MIRT882931	hsa-miR-378i	CLIP-seq
MIRT882932	hsa-miR-3925-3p	CLIP-seq
MIRT882933	hsa-miR-422a	CLIP-seq
MIRT882934	hsa-miR-4443	CLIP-seq
MIRT882935	hsa-miR-4638-3p	CLIP-seq
MIRT882936	hsa-miR-4685-5p	CLIP-seq
MIRT882937	hsa-miR-4722-5p	CLIP-seq
MIRT882938	hsa-miR-4768-3p	CLIP-seq
MIRT882939	hsa-miR-4773	CLIP-seq
MIRT882940	hsa-miR-650	CLIP-seq
MIRT882941	hsa-miR-766	CLIP-seq
MIRT882942	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	25589040
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	21368133
GO:0007605	Process	Sensory perception of sound	IMP	25589040
GO:0007605	Process	Sensory perception of sound	ISS
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0042802	Function	Identical protein binding	IDA	25589040

Other IDs

• MIM: 614591
• HGNC: 31948
• e!Ensembl: ENSG00000213892

Protein

• UniProt ID: Q2WEN9
• Protein name: Cell adhesion molecule CEACAM16 (Carcinoembryonic antigen-like 2) (Carcinoembryonic antigen-related cell adhesion molecule 16) (CEA cell adhesion molecule 16)
• Protein function: Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13895	Ig_2	132 → 219	Immunoglobulin domain	Domain
  PF13895	Ig_2	228 → 312	Immunoglobulin domain	Domain
  PF07686	V-set	321 → 422	Immunoglobulin V-set domain	Domain

• Sequence:

  MALTGYSWLLLSATFLNVGAEISITLEPAQPSEGDNVTLVVHGLSGELLAYSWYAGPTLS
  VSYLVASYIVSTGDETPGPAHTGREAVRPDGSLDIQGILPRHSGTYILQTFNRQLQTEVG
  YGHVQVHEILAQPTVLANSTALVERRDTLRLMCSSPSPTAEVRWFFNGGALPVALRLGLS
  PDGRVLARHGIRREEAGAYQCEVWNPVSVSRSEPINLTVYFGPERVAILQDSTTRTGCTI
  KVDFNTSLTLWCVSRSCPEPEYVWTFNGQALKNGQDHLNISSMTAAQEGTYTCIAKNTKT
  LLSGSASVVVKLSAAAVATMIVPVPTKPTEGQDVTLTVQGYPKDLLVYAWYRGPASEPNR
  LLSQLPSGTWIAGPAHTGREVGFPNCSLLVQKLNLTDTGRYTLKTVTVQGKTETLEVELQ
  VAPLG

• Sequence length: 425

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing loss 4B	Pathogenic	rs1347137461, rs876661405, rs387907149	RCV001544499 RCV000223943 RCV000024237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic	rs2122194539	RCV001814499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 113	Pathogenic	rs1568528171, rs1198256157	RCV000768566 RCV000768567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic	rs1599814534	RCV000991303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs755154488	RCV000221841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEACAM16-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 4B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 113	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21891868		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	29703829	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 4B	Deafness	UNIPROT_DG	21368133, 25589040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 4B	Deafness	GENOMICS_ENGLAND_DG	26648831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 4B	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 4B	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	29703829	Associate	★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	21368133, 25589040		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	21368133, 22544735, 25589040, 26648831		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only