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CEACAM16 carcinoembryonic antigen related cell adhesion molecule 16 [ Homo sapiens (human) ]

Gene ID: 388551, updated on 13-Feb-2019

Summary

Official Symbol
CEACAM16provided by HGNC
Official Full Name
carcinoembryonic antigen related cell adhesion molecule 16provided by HGNC
Primary source
HGNC:HGNC:31948
See related
Ensembl:ENSG00000213892 MIM:614591
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
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

Genomic context

See CEACAM16 in Genome Data Viewer
Location:
19q13.31-q13.32
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (44699151..44710714)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45202421..45213986)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985305 Neighboring gene carcinoembryonic antigen related cell adhesion molecule 19 Neighboring gene uncharacterized LOC107985306 Neighboring gene BCL3 transcription coactivator Neighboring gene microRNA 8085 Neighboring gene Cbl proto-oncogene C

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal dominant 4b
MedGen: C3281297 OMIM: 614614 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
stereocilium tip IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilium tip ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_032692.2 RefSeqGene

    Range
    5001..16568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039213.4NP_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
    Q2WEN9
    Related
    ENSP00000466561.1, ENST00000587331.6
    Conserved Domains (5) summary
    cd05774
    Location:22126
    Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
    smart00410
    Location:139219
    IG_like; Immunoglobulin like
    pfam07679
    Location:223312
    I-set; Immunoglobulin I-set domain
    pfam13895
    Location:247310
    Ig_2; Immunoglobulin domain
    cl11960
    Location:143219
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    44699151..44710714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026795.1XP_016882284.1  carcinoembryonic antigen-related cell adhesion molecule 16 isoform X1

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