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    CDH23 cadherin related 23 [ Homo sapiens (human) ]

    Gene ID: 64072, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CDH23provided by HGNC
    Official Full Name
    cadherin related 23provided by HGNC
    Primary source
    HGNC:HGNC:13733
    See related
    Ensembl:ENSG00000107736 MIM:605516; AllianceGenome:HGNC:13733
    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
    PITA5; USH1D; CDHR23
    Summary
    This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
    Expression
    Broad expression in ovary (RPKM 4.2), fat (RPKM 2.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDH23 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    71
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (71396920..71815947)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72266464..72686680)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73156677..73575704)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73086403-73086902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73087283-73087858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73087859-73088434 Neighboring gene uncharacterized LOC105378353 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73103993-73104698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73105405-73106110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73110710-73111210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73111211-73111711 Neighboring gene solute carrier family 29 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73136384-73136944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73156969-73157480 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73202099-73202263 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73222965-73223156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73225529-73226250 Neighboring gene uncharacterized LOC105378356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73246156-73246656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73246657-73247157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73254765-73255264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73261097-73261617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73277285-73277785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73287079-73287589 Neighboring gene CDH23 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73295035-73295856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73300575-73301272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73301937-73302516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73303768-73304277 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73307302-73307496 Neighboring gene uncharacterized LOC105378355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73321825-73322348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73322349-73322872 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:73327348-73328169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73331571-73332072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73372049-73372563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73381965-73382568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73390204-73391034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73392929-73393464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73393465-73394000 Neighboring gene Sharpr-MPRA regulatory region 11817 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:73398641-73399578 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:73402475-73403119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3516 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:73417087-73417810 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73417811-73418534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73447088-73447602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73461368-73462281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73460453-73461367 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73476810-73477007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73478924-73479672 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73485282-73486481 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73489247-73489438 Neighboring gene chromosome 10 open reading frame 105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73517352-73517887 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:73526094-73527293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2466 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73537763-73537918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73550045-73550944 Neighboring gene Sharpr-MPRA regulatory region 2121 Neighboring gene uncharacterized LOC124902446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73570820-73571322 Neighboring gene V-set immunoregulatory receptor Neighboring gene microRNA 7152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73595633-73596402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73596403-73597172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73597943-73598711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73609267-73609766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73610158-73610688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73610689-73611219 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:73619612-73619846 Neighboring gene NFE2L2 motif-containing MPRA enhancers 43 and 138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73635755-73636635 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene prosaposin Neighboring gene long intergenic non-protein coding RNA 3139

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing. Woo HM, et al. BMC Med Genet, 2014 Apr 28. PMID 24767429, Free PMC Article
    2. Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. Vanniya S P, et al. Ann Hum Genet, 2018 Mar. PMID 29148562
    3. Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. Zhang Q, et al. Am J Hum Genet, 2017 May 4. PMID 28413019, Free PMC Article
    4. Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans. Kim BJ, et al. PLoS One, 2016. PMID 27792758, Free PMC Article
    5. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. von Brederlow B, et al. Hum Mutat, 2002 Mar. PMID 11857743

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
      Title: CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
    2. Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
      Title: Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
    3. Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.
      Title: Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population.
    4. A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
      Title: A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
    5. Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.
      Title: Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.
    6. Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis.
      Title: Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis.
    7. Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma.
      Title: Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma.
    8. A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
      Title: A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
    9. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
      Title: Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
    10. [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].
      Title: [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    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

    EBI GWAS Catalog

    Description
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of cadherin-related 23 (CDH23) by siRNA enhances HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00233, FLJ36499, KIAA1774, KIAA1812, MGC102761, DKFZp434P2350

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in equilibrioception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cochlear hair cell ribbon synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinocilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor ribbon synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in stereocilium tip IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cadherin-23
    Names
    cadherin-like 23
    cadherin-related family member 23
    otocadherin

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_008835.1 RefSeqGene

      Range
      4974..424001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171930.2 → NP_001165401.1  cadherin-23 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF312024, AL359183, AL731541, BC011570, BC065284, BC136976, DB333699
      Consensus CDS
      CCDS81472.1
      UniProtKB/TrEMBL
      A0A087WYR8, A0A0A0MS94, Q6P152
      Related
      ENSP00000482036.2, ENST00000616684.4
      Conserved Domains (1) summary
      cd11304
      Location:894 → 990
      Cadherin_repeat; Cadherin tandem repeat domain

    2. NM_001171931.2 → NP_001165402.1  cadherin-23 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001165402.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL359183, AL731541, BC011570, BC032581
      Consensus CDS
      CCDS81473.1
      UniProtKB/TrEMBL
      B1AVV0, G3XCN8, Q8N5B3
      Related
      ENSP00000299366.8, ENST00000299366.11
      Conserved Domains (1) summary
      cd11304
      Location:894 → 990
      Cadherin_repeat; Cadherin tandem repeat domain

    3. NM_001171932.2 → NP_001165403.1  cadherin-23 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001165403.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL359183, AL772287, BC011570, BC139903
      UniProtKB/TrEMBL
      A5D6V9
      Conserved Domains (1) summary
      cd11304
      Location:136 → 231
      Cadherin_repeat; Cadherin tandem repeat domain

    4. NM_001171933.1 → NP_001165404.1  cadherin-23 isoform 6

      See identical proteins and their annotated locations for NP_001165404.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (6, also referred to as isoform B1) is shorter than isoform 1.
      Source sequence(s)
      AL731541, AY563161, AY563165, BM673126
      Consensus CDS
      CCDS53540.1
      UniProtKB/Swiss-Prot
      Q9H251
      Related
      ENSP00000381768.3, ENST00000398788.4
      Conserved Domains (1) summary
      cd11304
      Location:166 → 264
      Cadherin_repeat; Cadherin tandem repeat domain

    5. NM_001171934.1 → NP_001165405.1  cadherin-23 isoform 7

      See identical proteins and their annotated locations for NP_001165405.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (7, also referred to as isoform B2) is shorter than isoform 1.
      Source sequence(s)
      AL731541, AY563161, AY563165, BM673126
      Consensus CDS
      CCDS73146.1
      UniProtKB/Swiss-Prot
      Q9H251
      Related
      ENSP00000478374.1, ENST00000619887.4
      Conserved Domains (1) summary
      cd11304
      Location:166 → 264
      Cadherin_repeat; Cadherin tandem repeat domain

    6. NM_001171935.1 → NP_001165406.1  cadherin-23 isoform 8

      See identical proteins and their annotated locations for NP_001165406.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (8, also referred to as isoform C1) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AY563161, BM673126
      UniProtKB/Swiss-Prot
      Q9H251

    7. NM_001171936.1 → NP_001165407.1  cadherin-23 isoform 9

      See identical proteins and their annotated locations for NP_001165407.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (9, also referred to as isoform C2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AY563162, BM673126
      UniProtKB/Swiss-Prot
      Q9H251

    8. NM_022124.6 → NP_071407.4  cadherin-23 isoform 1 precursor

      See identical proteins and their annotated locations for NP_071407.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF312024, AL359183, AL731541, AY563161, BC011570, BC065284, BC136976, BM673126
      Consensus CDS
      CCDS86100.1
      UniProtKB/Swiss-Prot
      C4IXS9, F6U049, Q5QGS1, Q5QGS2, Q5QGS5, Q5QGS6, Q5XKN2, Q6UWW1, Q96JL3, Q9H251, Q9H4K9
      Related
      ENSP00000224721.9, ENST00000224721.12
      Conserved Domains (1) summary
      cd11304
      Location:1426 → 1523
      Cadherin_repeat; Cadherin tandem repeat domain

    9. NM_052836.4 → NP_443068.1  cadherin-23 isoform 2 precursor

      See identical proteins and their annotated locations for NP_443068.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL359183, AL772287, AY358617, BC011570, BC136976
      Consensus CDS
      CCDS44429.1
      UniProtKB/TrEMBL
      Q32P55
      Related
      ENSP00000473454.2, ENST00000461841.7
      Conserved Domains (1) summary
      cd11304
      Location:136 → 231
      Cadherin_repeat; Cadherin tandem repeat domain

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      71396920..71815947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      72266464..72686680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H251.2 GenPept UniProtKB/Swiss-Prot:Q9H251

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous