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    PCDH15 protocadherin related 15 [ Homo sapiens (human) ]

    Gene ID: 65217, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PCDH15provided by HGNC
    Official Full Name
    protocadherin related 15provided by HGNC
    Primary source
    HGNC:HGNC:14674
    See related
    Ensembl:ENSG00000150275 MIM:605514; AllianceGenome:HGNC:14674
    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
    USH1F; CDHR15; DFNB23
    Summary
    This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
    Expression
    Biased expression in brain (RPKM 1.2), adrenal (RPKM 0.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCDH15 in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (53802771..55627942, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (54651649..56479356, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (55562531..57387702, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378310 Neighboring gene NANOG hESC enhancer GRCh37_chr10:55097883-55098474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:55115623-55116122 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55117592-55118458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:55115121-55115622 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55118459-55119324 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:55236154-55237043 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55252302-55252832 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55252833-55253362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55263887-55264720 Neighboring gene RNA, 5S ribosomal pseudogene 318 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:55357385-55358143 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:55359661-55360417 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:55358902-55359660 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:55358144-55358901 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:55379167-55379668 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:55504311-55504990 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:55620266-55620480 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:55926123-55926948 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:55926949-55927772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:55931055-55931823 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:56154165-56154833 Neighboring gene NANOG hESC enhancer GRCh37_chr10:56170367-56170915 Neighboring gene uncharacterized LOC105378311 Neighboring gene RNA, U6 small nuclear 687, pseudogene Neighboring gene microRNA 548f-1 Neighboring gene neurofilament medium pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:56598350-56598522 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3380 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:57362261-57362761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:57387198-57388008 Neighboring gene zinc finger MYM-type containing 4 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr10:57507392-57507557 Neighboring gene MT-RNR2 like 5 (pseudogene) Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 21

    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 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. Genetic variations in protocadherin 15 and their interactions with noise exposure associated with noise-induced hearing loss in Chinese population. Zhang X, et al. Environ Res, 2014 Nov. PMID 25462672
    2. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. Yoshimura H, et al. J Hum Genet, 2016 May. PMID 26791358, Free PMC Article
    3. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. Ben-Yosef T, et al. N Engl J Med, 2003 Apr 24. PMID 12711741
    4. High-throughput alternative splicing detection using dually constrained correspondence analysis (DCCA). Baty F, et al. J Biomed Inform, 2015 Dec. PMID 26483173
    5. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. Sloan-Heggen CM, et al. J Med Genet, 2015 Dec. PMID 26445815, Free PMC Article

    See all (125) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.
      Title: Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.
    2. A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.
      Title: A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.
    3. The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.
      Title: The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.
    4. Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.
      Title: Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.
    5. Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.
      Title: Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.
    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. Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.
      Title: Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.
    8. PCDH15 molecules form double-helical assemblies through cis-dimerization in the extracellular cadherin domain region and in a membrane-proximal domain.
      Title: Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture.
    9. The protein products of PCDH15 and USH1G function together at the stereocilia tips in the hair cells.
      Title: Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
    10. Novel 4658delT PCDH15 mutation was identified in a family with nonsyndromic hearing loss.
      Title: Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.
    Submit: New GeneRIF Correction See all GeneRIFs (47)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.
    EBI GWAS Catalog
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    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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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of protocadherin-related 15 (PCDH15) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp667A1711

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    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 inner ear development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in photoreceptor cell maintenance 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 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protocadherin-15
    Names
    cadherin-related family member 15

    NCBI Reference Sequences (RefSeq)

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    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_009191.3 RefSeqGene

      Range
      832952..1831412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142763.2 → NP_001136235.1  protocadherin-15 isoform CD1-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) encodes isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS73137.1
      UniProtKB/TrEMBL
      A2A3D8
      Related
      ENSP00000363068.4, ENST00000373957.7
      Conserved Domains (1) summary
      cd11304
      Location:626 → 718
      Cadherin_repeat; Cadherin tandem repeat domain

    2. NM_001142764.2 → NP_001136236.1  protocadherin-15 isoform CD1-2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) lacks an alternate in-frame exon in the 5' coding region, compared to variant A. The resulting isoform (CD1-2) lacks a 5-aa segment near the N-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS44404.1
      UniProtKB/TrEMBL
      A2A3E7
      Related
      ENSP00000354950.3, ENST00000361849.7
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    3. NM_001142765.2 → NP_001136237.1  protocadherin-15 isoform CD1-6 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) lacks an alternate in-frame exon in the 5' coding region and two alternate in-frame exons in the central coding region, compared to variant A. The resulting isoform (CD1-6) lacks a 5-aa segment near the N-terminus and a 71-aa segment in the central protein, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS73134.1
      UniProtKB/TrEMBL
      E7EM53
      Related
      ENSP00000412628.2, ENST00000437009.5
      Conserved Domains (1) summary
      cd11304
      Location:651 → 744
      Cadherin_repeat; Cadherin tandem repeat domain

    4. NM_001142766.2 → NP_001136238.1  protocadherin-15 isoform CD1-7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (E) lacks three alternate in-frame exons, compared to variant A. The resulting isoform (CD1-7) has the same N- and C-termini but lacks three internal segments, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS44403.1
      UniProtKB/TrEMBL
      A2A3E6
      Related
      ENSP00000378818.1, ENST00000395430.5
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    5. NM_001142767.2 → NP_001136239.1  protocadherin-15 isoform CD1-8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (F) lacks 4 alternate in-frame exons, compared to variant A. The resulting isoform (CD1-8) has the same N- and C-termini but lacks four internal segments, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      UniProtKB/TrEMBL
      E7EMG0
      Conserved Domains (1) summary
      cd11304
      Location:584 → 676
      Cadherin_repeat; Cadherin tandem repeat domain

    6. NM_001142768.2 → NP_001136240.1  protocadherin-15 isoform CD1-9 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (G) lacks two alternate in-frame exons in the 5' coding region, compared to variant A. The resulting isoform (CD1-9) lacks a 27-aa segment near the N-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL356114, AL360214, AL365496
      Conserved Domains (1) summary
      cd11304
      Location:599 → 691
      Cadherin_repeat; Cadherin tandem repeat domain

    7. NM_001142769.3 → NP_001136241.1  protocadherin-15 isoform CD2-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (I) includes an alternate in-frame exon in the central coding region and has a distinct 3' splice pattern, compared to variant A. The resulting isoform (CD2-1) includes an alternate 7-aa segment in the central coding region and has a distinct and longer C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496, EU718480
      Consensus CDS
      CCDS73138.1
      UniProtKB/TrEMBL
      A0A087WZN9
      Related
      ENSP00000482794.1, ENST00000613657.6
      Conserved Domains (1) summary
      cd11304
      Location:633 → 725
      Cadherin_repeat; Cadherin tandem repeat domain

    8. NM_001142770.3 → NP_001136242.1  protocadherin-15 isoform CD2-2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (J) lacks an alternate in-frame exon in the 5' coding region and has a distinct 3' splice pattern, compared to variant A. The resulting isoform (CD2-2) lacks a 5-aa segment in the 5' coding region and has a distinct and longer C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496, EU718480
      Consensus CDS
      CCDS44400.1
      UniProtKB/TrEMBL
      A0A087WTR6
      Related
      ENSP00000478076.1, ENST00000617271.4
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    9. NM_001142771.2 → NP_001136243.1  protocadherin-15 isoform CD3-1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (K) has a distinct 3' splice pattern, compared to variant A. The resulting isoform (CD3-1) has a distinct and longer C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS73136.1
      UniProtKB/TrEMBL
      A0A087X1T6
      Related
      ENSP00000484454.1, ENST00000621708.4
      Conserved Domains (1) summary
      cd11304
      Location:626 → 718
      Cadherin_repeat; Cadherin tandem repeat domain

    10. NM_001142772.2 → NP_001136244.1  protocadherin-15 isoform CD3-2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (L) lacks an alternate in-frame exon in the 5' coding region and has a distinct 3' splice pattern, compared to variant A. The resulting isoform (CD3-2) lacks a 5-aa segment near the N-terminus and has a distinct and longer C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS73135.1
      UniProtKB/TrEMBL
      A9Z1W1
      Related
      ENSP00000363076.3, ENST00000373965.6
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    11. NM_001142773.2 → NP_001136245.1  protocadherin-15 isoform CD1-10 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (H) lacks three alternate in-frame exons, compared to variant A. The resulting isoform (CD1-10) has the same N- and C-termini but lacks two internal segments, compared to isoform CD1-10.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS44401.1
      UniProtKB/TrEMBL
      A2A3E8
      Related
      ENSP00000378821.1, ENST00000395433.5
      Conserved Domains (1) summary
      cd11304
      Location:599 → 691
      Cadherin_repeat; Cadherin tandem repeat domain

    12. NM_001354404.2 → NP_001341333.1  protocadherin-15 isoform CD1-a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (M) is derived from an alternate upstream promoter and it thus differs in the 5' UTR, and it also lacks an alternate in-frame segment in both the 5' and 3' coding regions, compared to variant A. The encoded isoform (CD1-a) is shorter than isoform CD1-1.
      Source sequence(s)
      AK126923, AL365496, AW005431, AY029237
      Conserved Domains (1) summary
      cd11304
      Location:599 → 691
      Cadherin_repeat; Cadherin tandem repeat domain

    13. NM_001354411.2 → NP_001341340.1  protocadherin-15 isoform CD2-a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N) lacks an alternate in-frame exon in the 5' coding region and has a distinct 3' splice pattern, compared to variant A. The encoded isoform (CD2-a, also known as CD2 isoform 1) lacks a 5-aa segment in the N-terminal region, has a distinct C-terminus, and is shorter than isoform CD1-1.
      Source sequence(s)
      AL365496, EU718480
      Consensus CDS
      CCDS86095.1
      Related
      ENSP00000378832.2, ENST00000395445.6
      Conserved Domains (1) summary
      cd11304
      Location:628 → 720
      Cadherin_repeat; Cadherin tandem repeat domain

    14. NM_001354420.2 → NP_001341349.1  protocadherin-15 isoform CD3-a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (O) lacks an alternate in-frame exon in the 5' coding region and has a distinct 3' splice pattern, compared to variant A. The encoded isoform (CD3-a, also known as CD3 isoform 1) lacks a 5-aa segment in the N-terminal region, has a distinct C-terminus, and is shorter than isoform CD1-1.
      Source sequence(s)
      AL365496, BM675194, EU718482
      Consensus CDS
      CCDS86094.1
      Related
      ENSP00000483745.1, ENST00000616114.4
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    15. NM_001354429.2 → NP_001341358.1  protocadherin-15 isoform CD3-b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (P) lacks an alternate in-frame exon in the 5' coding region and has a distinct 3' splice pattern, compared to variant A. The encoded isoform (CD3-b) lacks a 5-aa segment in the N-terminal region, has a distinct C-terminus, and is shorter than isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496, AY029237, BM675194
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    16. NM_001354430.2 → NP_001341359.1  protocadherin-15 isoform CD-Sa precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Q) lacks an alternate in-frame exon in the 5' coding region, lacks several 3' exons but instead contains a distinct 3' end, compared to variant A. The encoded isoform (CD-Sa) lacks a 5-aa segment in the N-terminal region, and has a distinct and significantly shorter C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC024073, AC027671, AL834134, AY029237
      Consensus CDS
      CCDS86093.1
      Related
      ENSP00000363066.1, ENST00000373955.5
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain

    17. NM_001384140.1 → NP_001371069.1  protocadherin-15 soform CD3-c precursor

      Status: REVIEWED

      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS91245.1
      UniProtKB/TrEMBL
      A0A2R8Y6C0
      Related
      ENSP00000495195.1, ENST00000644397.2
      Conserved Domains (3) summary
      cd11304
      Location:621 → 713
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:305 → 393
      CA; Cadherin repeats
      pfam18432
      Location:31 → 140
      ECD; Extracellular Cadherin domain

    18. NM_033056.4 → NP_149045.3  protocadherin-15 isoform CD1-4 precursor

      See identical proteins and their annotated locations for NP_149045.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) lacks two alternate in-frame exons in the 5' and 3' coding region, compared to variant A. The resulting isoform (CD1-4) lacks a 5-aa segment near the N-terminus and a 2-aa segment near the C-terminus, compared to isoform CD1-1.
      Source sequence(s)
      AC013737, AC016817, AC024073, AC027671, AC051618, AL353784, AL356114, AL360214, AL365496
      Consensus CDS
      CCDS7248.1
      UniProtKB/Swiss-Prot
      A6NL19, C6ZEF5, C6ZEF6, C6ZEF7, Q5VY38, Q5VY39, Q6TRH8, Q8NDB9, Q96QT8, Q96QU1
      Related
      ENSP00000322604.6, ENST00000320301.11
      Conserved Domains (1) summary
      cd11304
      Location:621 → 713
      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
      53802771..55627942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425663.1 → XP_047281619.1  protocadherin-15 isoform X1

    2. XM_047425664.1 → XP_047281620.1  protocadherin-15 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      54651649..56479356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366620.1 → XP_054222595.1  protocadherin-15 isoform X1

    2. XM_054366621.1 → XP_054222596.1  protocadherin-15 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QU1.2 GenPept UniProtKB/Swiss-Prot:Q96QU1

    Gene LinkOut

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