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CDH23 cadherin related 23 [ Homo sapiens (human) ]

Gene ID: 64072, updated on 11-Apr-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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Location:
10q22.1
Exon count:
71
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (71396920..71815947)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72266464..72686680)
105.20220307 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 uncharacterized LOC124902447 Neighboring gene RNA, U7 small nuclear 38 pseudogene Neighboring gene prosaposin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis. Wu ZD, et al. Ann Hum Biol, 2022 Feb. PMID 35786118
  2. Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss. Chen K, et al. Otolaryngol Head Neck Surg, 2022 Sep. PMID 34752165
  3. Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma. Cao B, et al. Aging (Albany NY), 2021 Jul 12. PMID 34252883, Free PMC Article
  4. [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene]. Liu X, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2021 Mar. PMID 33794607, Free PMC Article
  5. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene]. Chen B, et al. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2020 Sep 7. PMID 32911884

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.
    Title: Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].
    Title: [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene].
  9. High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.
    Title: High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma.
  10. A novel highly frequent singlenucleotide polymorphism site of cadherin 23 in clear cell renal cell carcinoma with sarcomatoid differentiation based on whole exome sequencing.
    Title: A novel highly frequent single‑nucleotide polymorphism site of cadherin 23 in clear cell renal cell carcinoma with sarcomatoid differentiation based on whole exome sequencing.
Submit: New GeneRIF Correction See all GeneRIFs (56)

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)

Genotypes

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 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 multicellular organism development IBA
Inferred from Biological aspect of Ancestor
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 response to stimulus IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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