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 ... See more...

Aliases for CDH19 Gene

Aliases for CDH19 Gene

  • Cadherin 19 2 3 5
  • Cadherin 19, Type 2 2 3
  • Cadherin-19 3 4
  • CDH7L2 3 4
  • CDH7 2 3
  • CDH19 5

External Ids for CDH19 Gene

Previous GeneCards Identifiers for CDH19 Gene

  • GC18M064016
  • GC18M064254
  • GC18M062320
  • GC18M062322
  • GC18M060871

Summaries for CDH19 Gene

Entrez Gene Summary for CDH19 Gene

  • 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]

GeneCards Summary for CDH19 Gene

CDH19 (Cadherin 19) is a Protein Coding gene. Diseases associated with CDH19 include Charge Syndrome and Coloboma Of Macula. Among its related pathways are ERK Signaling and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH7.

UniProtKB/Swiss-Prot Summary for CDH19 Gene

  • Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

Additional gene information for CDH19 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH19 Gene

Genomics for CDH19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J066604 Promoter 0.7 EPDnew Ensembl 600.7 +0.2 240 0.8 CDH19 L13714-223 CDH7
GH18J066866 Promoter 0.4 EPDnew 600.1 -262.5 -262452 0.1 ZFX CDH19 piR-31162-220 HSALNG0122156 DSEL
GH18J066639 Enhancer 0.4 Ensembl ENCODE 16.2 -35.7 -35660 3.8 SPI1 CDH19 piR-45012-256 DSEL
GH18J066645 Enhancer 0.4 Ensembl 15.8 -42.0 -41960 1.2 STAT3 SMARCA4 NANOG POU5F1 CDH19 piR-45012-256 DSEL
GH18J066511 Enhancer 0.7 Ensembl ENCODE 8.3 +92.3 92341 2.6 SP1 CEBPB CHD2 JUN JUND EP300 FOSL2 STAT3 TCF7L2 MAFK CDH19 L13714-223 piR-39300-061 CDH7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH19

Top Transcription factor binding sites by QIAGEN in the CDH19 gene promoter:
  • aMEF-2
  • C/EBPbeta
  • CUTL1
  • FOXD3
  • GATA-1
  • MEF-2A
  • p53
  • SRY

Genomic Locations for CDH19 Gene

Genomic Locations for CDH19 Gene
chr18:66,501,083-66,604,241
(GRCh38/hg38)
Size:
103,159 bases
Orientation:
Minus strand
chr18:64,168,320-64,271,375
(GRCh37/hg19)
Size:
103,056 bases
Orientation:
Minus strand

Genomic View for CDH19 Gene

Genes around CDH19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH19 Gene

Proteins for CDH19 Gene

  • Protein details for CDH19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H159-CAD19_HUMAN
    Recommended name:
    Cadherin-19
    Protein Accession:
    Q9H159
    Secondary Accessions:
    • B4E1V5
    • F5H1K0

    Protein attributes for CDH19 Gene

    Size:
    772 amino acids
    Molecular mass:
    87002 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CDH19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH19 Gene

Post-translational modifications for CDH19 Gene

  • Glycosylation at Asn57, Asn74, Asn419, Asn437, Asn508, Asn515, Asn516, and Asn534
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDH19 Gene

Domains & Families for CDH19 Gene

Gene Families for CDH19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CDH19 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin
ProtoNet:

Suggested Antigen Peptide Sequences for CDH19 Gene

GenScript: Design optimal peptide antigens:
  • Cadherin-19 (CAD19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H159

UniProtKB/Swiss-Prot:

CAD19_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with CDH19: view

Function for CDH19 Gene

Molecular function for CDH19 Gene

UniProtKB/Swiss-Prot Function:
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

Phenotypes From GWAS Catalog for CDH19 Gene

Gene Ontology (GO) - Molecular Function for CDH19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0008092 cytoskeletal protein binding IBA --
GO:0045296 cadherin binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CDH19: view
genes like me logo Genes that share phenotypes with CDH19: view

Animal Models for CDH19 Gene

MGI Knock Outs for CDH19:
  • Cdh19 Cdh19<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for CDH19

CRISPR Products

miRNA for CDH19 Gene

miRTarBase miRNAs that target CDH19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH19

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDH19 Gene

Localization for CDH19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH19 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH19 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CDH19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005912 adherens junction IBA 21873635
GO:0009986 cell surface IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CDH19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDH19 Gene

Pathways & Interactions for CDH19 Gene

PathCards logo

SuperPathways for CDH19 Gene

SuperPathway Contained pathways
1 ERK Signaling
.61
.49
2 Regulation of activated PAK-2p34 by proteasome mediated degradation
3 G12-G13 in Cellular Signaling
-
4 Nanog in Mammalian ESC Pluripotency
.62
5 Presenilin-Mediated Signaling
-
genes like me logo Genes that share pathways with CDH19: view

Pathways by source for CDH19 Gene

1 Sino Biological pathway for CDH19 Gene
7 Qiagen pathways for CDH19 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • Presenilin-Mediated Signaling
  • Rho Family GTPases

Gene Ontology (GO) - Biological Process for CDH19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0007043 cell-cell junction assembly IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with CDH19: view

No data available for SIGNOR curated interactions for CDH19 Gene

Drugs & Compounds for CDH19 Gene

(1) Drugs for CDH19 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with CDH19: view

Transcripts for CDH19 Gene

mRNA/cDNA for CDH19 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH19

Alternative Splicing Database (ASD) splice patterns (SP) for CDH19 Gene

No ASD Table

Relevant External Links for CDH19 Gene

GeneLoc Exon Structure for
CDH19

Expression for CDH19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH19 Gene

mRNA differential expression in normal tissues according to GTEx for CDH19 Gene

This gene is overexpressed in Nerve - Tibial (x14.4) and Heart - Atrial Appendage (x7.7).

Protein differential expression in normal tissues from HIPED for CDH19 Gene

This gene is overexpressed in Retina (35.1) and Monocytes (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH19 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH19

SOURCE GeneReport for Unigene cluster for CDH19 Gene:

Hs.42771

mRNA Expression by UniProt/SwissProt for CDH19 Gene:

Q9H159-CAD19_HUMAN
Tissue specificity: Expressed in many tissues, with the exception of uterus.

Evidence on tissue expression from TISSUES for CDH19 Gene

  • Heart(2.6)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with CDH19: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH19 Gene

Orthologs for CDH19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDH19 30 31
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDH19 30 31
  • 88.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDH19 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdh19 30 17 31
  • 78.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdh19 30
  • 78.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia CDH19 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDH19 30
  • 66.27 (n)
CAD19 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDH19 31
  • 50 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdh19 30
  • 62.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii CDH19 31
  • 42 (a)
OneToOne
Species where no ortholog for CDH19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDH19 Gene

ENSEMBL:
Gene Tree for CDH19 (if available)
TreeFam:
Gene Tree for CDH19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH19: view image

Paralogs for CDH19 Gene

(22) SIMAP similar genes for CDH19 Gene using alignment to 4 proteins:

  • CAD19_HUMAN
  • F8VVI9_HUMAN
  • J3KTP3_HUMAN
  • J3QS15_HUMAN
genes like me logo Genes that share paralogs with CDH19: view

Variants for CDH19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH19 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
708467 Likely Benign: not provided 66,544,208(-) T/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
770649 Benign: not provided 66,509,149(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
780482 Benign: not provided 66,568,640(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CDH19 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDH19 Gene

Variant ID Type Subtype PubMed ID
dgv1628n106 CNV deletion 24896259
dgv3380n100 CNV gain 25217958
dgv3381n100 CNV loss 25217958
dgv3382n100 CNV gain 25217958
dgv555n67 CNV loss 20364138
dgv5999n54 CNV loss 21841781
dgv6000n54 CNV loss 21841781
dgv6001n54 CNV loss 21841781
dgv6002n54 CNV loss 21841781
dgv6003n54 CNV loss 21841781
esv21881 CNV gain+loss 19812545
esv2656202 CNV loss 23635498
esv2668897 CNV deletion 23128226
esv2717237 CNV deletion 23290073
esv2758734 CNV gain 17122850
esv3555541 CNV deletion 23714750
esv3555542 CNV deletion 23714750
esv3642869 CNV loss 21293372
esv3642872 CNV loss 21293372
esv3642873 CNV loss 21293372
esv7054 CNV gain 19470904
nsv1062752 CNV loss 25217958
nsv1067311 CNV loss 25217958
nsv458102 CNV loss 19166990
nsv458104 CNV loss 19166990
nsv521111 CNV gain 19592680
nsv577157 CNV loss 21841781
nsv577255 CNV gain 21841781
nsv577257 CNV loss 21841781
nsv577258 CNV loss 21841781
nsv577259 CNV loss 21841781
nsv577260 CNV loss 21841781
nsv577269 CNV loss 21841781
nsv819554 CNV gain 19587683
nsv820231 CNV gain 19587683
nsv821348 CNV deletion 20802225

Variation tolerance for CDH19 Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH19 Gene

Human Gene Mutation Database (HGMD)
CDH19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH19 Gene

Disorders for CDH19 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDH19 Gene - From: DISEASES

Disorder Aliases PubMed IDs
charge syndrome
  • hhs
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
Search CDH19 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDH19

genes like me logo Genes that share disorders with CDH19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH19 Gene

Publications for CDH19 Gene

  1. Characterization of three novel human cadherin genes (CDH7, CDH19, and CDH20) clustered on chromosome 18q22-q23 and with high homology to chicken cadherin-7. (PMID: 10995570) Kools P … van Roy F (Genomics 2000) 2 3 4 23
  2. A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. (PMID: 18184143) Tariq M … Ahmad W (Annals of human genetics 2008) 3 23
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CDH19 Gene

  • Signalway ELISA kits for CDH19
  • Signalway Proteins for CDH19

Sources for CDH19 Gene