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    CDH19 cadherin 19 [ Homo sapiens (human) ]

    Gene ID: 28513, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CDH19provided by HGNC
    Official Full Name
    cadherin 19provided by HGNC
    Primary source
    HGNC:HGNC:1758
    See related
    Ensembl:ENSG00000071991 MIM:603016; AllianceGenome:HGNC:1758
    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
    CDH7; CDH7L2
    Summary
    This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
    Expression
    Broad expression in heart (RPKM 5.1), adrenal (RPKM 2.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (66501083..66604090, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (66699077..66802147, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (64168320..64271327, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372170 Neighboring gene PRPF19 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:63938916-63939801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:64106439-64107364 Neighboring gene uncharacterized LOC124904320 Neighboring gene RNA, U6 small nuclear 1037, pseudogene

    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. Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells. Zorniak M, et al. J Neurosurg, 2015 Jan. PMID 25361488, Free PMC Article
    2. A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. Tariq M, et al. Ann Hum Genet, 2008 Jan. PMID 18184143
    3. Delineation and candidate gene mutation screening of the 18q22 minimal region of deletion in head and neck squamous cell carcinoma. Blons H, et al. Oncogene, 2002 Jul 25. PMID 12118382
    4. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Zayed H, et al. Am J Med Genet A, 2010 Apr. PMID 20358601, Free PMC Article
    5. Monocyte chemotactic protein (MCP)-1 promotes angiogenesis via a novel transcription factor, MCP-1-induced protein (MCPIP). Niu J, et al. J Biol Chem, 2008 May 23. PMID 18364357, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The cadherin protein CDH19 mediates cervical carcinoma progression by regulating AKT/NF-kappaB signaling.
      Title: The cadherin protein CDH19 mediates cervical carcinoma progression by regulating AKT/NF-κB signaling.
    2. Gene expression profiling of Glioblastoma stem-like cells has shown CDH19 to be an exciting new target for drug development and study of glioblastoma multiforme tumorigenesis
      Title: Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells.
    Submit: New GeneRIF Correction

    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
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    Process Evidence Code Pubs
    involved_in adherens junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion mediated by cadherin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell junction assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of catenin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cadherin-19
    Names
    cadherin 19, type 2

    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.

    mRNA and Protein(s)

    1. NM_001271028.2 → NP_001257957.1  cadherin-19 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC090393, AC091643, AK304000, AK315257
      Consensus CDS
      CCDS59325.1
      UniProtKB/TrEMBL
      J3KTP3
      Related
      ENSP00000439593.1, ENST00000540086.5
      Conserved Domains (1) summary
      cd11304
      Location:152 → 252
      Cadherin_repeat; Cadherin tandem repeat domain

    2. NM_021153.4 → NP_066976.1  cadherin-19 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_066976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC090393, AC091643, AJ007607, AK315257
      Consensus CDS
      CCDS11994.1
      UniProtKB/Swiss-Prot
      B4E1V5, F5H1K0, Q9H159
      Related
      ENSP00000262150.2, ENST00000262150.7
      Conserved Domains (2) summary
      cd11304
      Location:152 → 252
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam01049
      Location:627 → 765
      Cadherin_C; Cadherin cytoplasmic region

    RNA

    1. NR_073130.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC090393, AC091643, AK315257

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      66501083..66604090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437484.1 → XP_047293440.1  cadherin-19 isoform X1

      UniProtKB/Swiss-Prot
      B4E1V5, F5H1K0, Q9H159

    2. XM_011525931.4 → XP_011524233.1  cadherin-19 isoform X2

      Conserved Domains (3) summary
      cd11304
      Location:164 → 255
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00112
      Location:2 → 43
      CA; Cadherin repeats
      pfam01049
      Location:416 → 554
      Cadherin_C; Cadherin cytoplasmic region

    3. XM_011525932.2 → XP_011524234.1  cadherin-19 isoform X3

      UniProtKB/TrEMBL
      F8VVI9
      Related
      ENSP00000401998.3, ENST00000454642.3
      Conserved Domains (1) summary
      cd11304
      Location:152 → 252
      Cadherin_repeat; Cadherin tandem repeat domain

    4. XM_047437485.1 → XP_047293441.1  cadherin-19 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      66699077..66802147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318540.1 → XP_054174515.1  cadherin-19 isoform X1

      UniProtKB/Swiss-Prot
      B4E1V5, F5H1K0, Q9H159

    2. XM_054318541.1 → XP_054174516.1  cadherin-19 isoform X2

    3. XM_054318542.1 → XP_054174517.1  cadherin-19 isoform X3

    4. XM_054318543.1 → XP_054174518.1  cadherin-19 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H159.1 GenPept UniProtKB/Swiss-Prot:Q9H159

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