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PCDH15 protocadherin related 15 [ Homo sapiens (human) ]

Gene ID: 65217, updated on 27-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
  • 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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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
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)

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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