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CDH19 cadherin 19 [ Homo sapiens (human) ]

Gene ID: 28513, updated on 23-Nov-2021

Summary

Official Symbol
CDH19provided by HGNC
Official Full Name
cadherin 19provided by HGNC
Primary source
HGNC:HGNC:1758
See related
Ensembl:ENSG00000071991 MIM:603016
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

See CDH19 in Genome Data Viewer
Location:
18q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (66501083..66604241, complement)
105.20201022 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 RNA, U6 small nuclear 1037, pseudogene Neighboring gene microRNA 5011

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in adherens junction organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of catenin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001271028.2NP_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/Swiss-Prot
    Q9H159
    Related
    ENSP00000439593.1, ENST00000540086.5
    Conserved Domains (1) summary
    cd11304
    Location:152252
    Cadherin_repeat; Cadherin tandem repeat domain
  2. NM_021153.4NP_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
    Q9H159
    Related
    ENSP00000262150.2, ENST00000262150.7
    Conserved Domains (2) summary
    cd11304
    Location:152252
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:627765
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    66501083..66604241 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525931.3XP_011524233.1  cadherin-19 isoform X1

    Conserved Domains (3) summary
    cd11304
    Location:164255
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:243
    CA; Cadherin repeats
    pfam01049
    Location:416554
    Cadherin_C; Cadherin cytoplasmic region
  2. XM_017025711.2XP_016881200.1  cadherin-19 isoform X1

    Conserved Domains (3) summary
    cd11304
    Location:164255
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:243
    CA; Cadherin repeats
    pfam01049
    Location:416554
    Cadherin_C; Cadherin cytoplasmic region
  3. XM_011525932.1XP_011524234.1  cadherin-19 isoform X2

    Related
    ENSP00000401998.3, ENST00000454642.3
    Conserved Domains (1) summary
    cd11304
    Location:152252
    Cadherin_repeat; Cadherin tandem repeat domain
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