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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
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Genomic context

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See CDH19 in Genome Data Viewer
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

Gene LinkOut

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