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

    Gene ID: 388551, updated on 17-Jun-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; 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

    Genomic context

    See CEACAM16 in Genome Data Viewer
    Location:
    19q13.31-q13.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (44699151..44710718)
    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 Sharpr-MPRA regulatory region 3873 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, ENST00000587331.7
      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.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      44699151..44710718
      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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