CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEACAM16provided by HGNC
Official Full Name: CEA cell adhesion molecule 16, tectorial membrane componentprovided by HGNC
Primary source: HGNC:HGNC:31948
See related: Ensembl:ENSG00000213892 MIM:614591; AllianceGenome:HGNC:31948
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEAL2; DFNA4B; DFNB113
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 an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.31-q13.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (44699151..44710718)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47523898..47535467)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45202421..45213990)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].
Title: [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].
Results confirm that CEACAM6 promoted cell proliferation mediated by cyclin D1/CDK4.
Title: Cell motility and spreading promoted by CEACAM6 through cyclin D1/CDK4 in human pancreatic carcinoma.
Data indicate that a heterozygous missense mutation, c.505G>A (p.G169R) in exon 3 of the CEACAM16 gene (carcinoembryonic antigen-related cell adhesion molecule 16) was identified in autosomal dominant nonsyndromic hearing loss family.
Title: Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
CEACAM16 can probably form higher order structures with other tectorial membrane proteins such as alpha-tectorin and beta-tectorin and influences the physical properties of the tectorial membrane
Title: Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies.
data identify CEACAM16 as an alpha-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus
Title: Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 4B MedGen: C3281297 OMIM: 614614 GeneReviews: Not available	Compare labs
Hearing loss, autosomal recessive 113 MedGen: C5193079 OMIM: 618410 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82802 (e-PCR)
- UniSTS:102434

STS-N39427 (e-PCR)
- UniSTS:71773

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: carcinoembryonic antigen-related cell adhesion molecule 16

Names: carcinoembryonic antigen like-2 protein; carcinoembryonic antigen related cell adhesion molecule 16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032692.2 RefSeqGene

Range

5001..16568

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1283

mRNA and Protein(s)

NM_001039213.4 → NP_001034302.2 carcinoembryonic antigen-related cell adhesion molecule 16 precursor

See identical proteins and their annotated locations for NP_001034302.2

Status: REVIEWED

Source sequence(s)

AC243964, BC144608, BF589367

Consensus CDS

CCDS54278.1

UniProtKB/Swiss-Prot

A7LI12, Q2WEN9

Related

ENSP00000466561.1, ENST00000587331.7

Conserved Domains (4) summary

pfam13927
Location:245 → 297

Ig_3; Immunoglobulin domain

cd00096
Location:247 → 254

Ig; Ig strand B [structural motif]

cd05740
Location:132 → 220

IgI_hCEACAM_2_4_6_like; Immunoglobulin (Ig)-like domain of human carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) domains 2, 4, and 6, and similar domains

cd05774
Location:22 → 126

IgV_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)