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    CLRN2 clarin 2 [ Homo sapiens (human) ]

    Gene ID: 645104, updated on 5-Mar-2024

    Summary

    Official Symbol
    CLRN2provided by HGNC
    Official Full Name
    clarin 2provided by HGNC
    Primary source
    HGNC:HGNC:33939
    See related
    Ensembl:ENSG00000249581 MIM:618988; AllianceGenome:HGNC:33939
    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
    DFNB117
    Summary
    This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    4p15.32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (17515165..17527104)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (17496915..17508853)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (17516788..17528727)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:17472355-17472854 Neighboring gene Sharpr-MPRA regulatory region 11631 Neighboring gene quinoid dihydropteridine reductase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15310 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:17546395-17546991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21349 Neighboring gene NACA pseudogene 5

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in stereocilium maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in stereocilium bundle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in stereocilium membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001079827.2NP_001073296.1  clarin-2

      See identical proteins and their annotated locations for NP_001073296.1

      Status: REVIEWED

      Source sequence(s)
      AC093600, BC127863
      Consensus CDS
      CCDS47032.1
      UniProtKB/Swiss-Prot
      A0PK11
      Related
      ENSP00000424711.2, ENST00000511148.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      17515165..17527104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      17496915..17508853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)