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    CLDN9 claudin 9 [ Homo sapiens (human) ]

    Gene ID: 9080, updated on 10-Dec-2024

    Summary

    Official Symbol
    CLDN9provided by HGNC
    Official Full Name
    claudin 9provided by HGNC
    Primary source
    HGNC:HGNC:2051
    See related
    Ensembl:ENSG00000213937 MIM:615799; AllianceGenome:HGNC:2051
    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
    DFNB116
    Summary
    This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]
    Orthologs
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    Genomic context

    See CLDN9 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3012923..3014505)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3039495..3041077)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3062924..3064506)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene progestin and adipoQ receptor family member 4 Neighboring gene protein kinase, membrane associated tyrosine/threonine 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3029137-3030013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030014-3030889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030890-3031766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3032811-3033312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7098 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3033737-3033923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3037455-3038406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3038407-3039356 Neighboring gene glycine rich extracellular protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3043721-3044222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3045542-3046514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048182-3048682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048683-3049183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3051481-3052017 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:3053764-3054722 Neighboring gene Sharpr-MPRA regulatory region 8596 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3057599-3058558 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3058559-3059516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3061783-3062608 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3064184-3064351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3065208-3065772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3066992-3067588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3067589-3068185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3068783-3069378 Neighboring gene claudin 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:3070698-3071897 Neighboring gene TNF receptor superfamily member 12A

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hearing loss, autosomal recessive 116
    MedGen: C5436789 OMIM: 619093 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding  
    enables protein binding PubMed 
    enables structural molecule activity  
    enables virus receptor activity PubMed 
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly  
    involved_in calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules  
    involved_in cell adhesion  
    involved_in symbiont entry into host cell  
    Component Evidence Code Pubs
    is_active_in bicellular tight junction  
    located_in bicellular tight junction  
    located_in cell junction  
    located_in intracellular membrane-bounded organelle  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 

    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_020982.4NP_066192.1  claudin-9

      See identical proteins and their annotated locations for NP_066192.1

      Status: REVIEWED

      Source sequence(s)
      AI791760, AK091002, BC051870
      Consensus CDS
      CCDS10487.1
      UniProtKB/Swiss-Prot
      O95484
      Related
      ENSP00000398017.2, ENST00000445369.3
      Conserved Domains (1) summary
      cl21598
      Location:4163
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3012923..3014505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3039495..3041077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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