This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane regio... See more...

Aliases for CDH7 Gene

Aliases for CDH7 Gene

  • Cadherin 7 2 3 5
  • Cadherin 7, Type 2 2 3
  • Cadherin-7 3 4
  • CDH7L1 3 4
  • CDH7 5

External Ids for CDH7 Gene

Previous GeneCards Identifiers for CDH7 Gene

  • GC18P063262
  • GC18P063390
  • GC18P061566
  • GC18P061568
  • GC18P060120

Summaries for CDH7 Gene

Entrez Gene Summary for CDH7 Gene

  • This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]

GeneCards Summary for CDH7 Gene

CDH7 (Cadherin 7) is a Protein Coding gene. Diseases associated with CDH7 include Waardenburg Syndrome, Type 2D and Charge Syndrome. Among its related pathways are Presenilin-Mediated Signaling and Cell junction organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH20.

UniProtKB/Swiss-Prot Summary for CDH7 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH7 Gene

Genomics for CDH7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH7 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
GH18J065750 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 260.2 +1.5 1531 4 ZNF600 ZNF10 ZIC2 ZBTB10 CEBPB TRIM22 FEZF1 CTCF SIN3A MAFF CDH7 HSALNG0122121 HSALNG0122122 lnc-CDH7-4 CDH19
GH18J065610 Enhancer 0.4 Ensembl 23.5 -139.3 -139251 1.6 POU5F1 NANOG PRDM1 CDH7 ENSG00000265217 lnc-CDH7-4
GH18J065768 Enhancer 0.8 ENCODE 8.5 +18.4 18350 1.1 ZNF580 CEBPB FEZF1 ZNF639 ZEB1 EP300 TBP ZNF843 NFE2 JUND CDH7 HSALNG0122122 lnc-CDH7-4 CDH19
GH18J065766 Enhancer 0.6 FANTOM5 10.5 +16.7 16744 0.2 CEBPB EP300 PRDM1 RFX5 STAT3 TBP ZNF189 CDH7 HSALNG0122122 lnc-CDH7-4 CDH19
GH18J065737 Enhancer 0.2 Ensembl 17.8 -12.6 -12551 0.2 CDH7 HSALNG0122120 HSALNG0122119 lnc-CDH7-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH7

Top Transcription factor binding sites by QIAGEN in the CDH7 gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NF-1

Genomic Locations for CDH7 Gene

Latest Assembly
chr18:65,750,252-65,890,337
(GRCh38/hg38)
Size:
140,086 bases
Orientation:
Plus strand

Previous Assembly
chr18:63,417,488-63,557,573
(GRCh37/hg19 by Entrez Gene)
Size:
140,086 bases
Orientation:
Plus strand

chr18:63,417,488-63,548,638
(GRCh37/hg19 by Ensembl)
Size:
131,151 bases
Orientation:
Plus strand

Genomic View for CDH7 Gene

Genes around CDH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH7 Gene

Proteins for CDH7 Gene

  • Protein details for CDH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULB5-CADH7_HUMAN
    Recommended name:
    Cadherin-7
    Protein Accession:
    Q9ULB5
    Secondary Accessions:
    • Q9H157

    Protein attributes for CDH7 Gene

    Size:
    785 amino acids
    Molecular mass:
    87086 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDH7 Gene

Post-translational modifications for CDH7 Gene

  • Glycosylation at Asn449 and Asn530
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH7 Gene

Antibodies for research

No data available for DME Specific Peptides for CDH7 Gene

Domains & Families for CDH7 Gene

Gene Families for CDH7 Gene

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

Protein Domains for CDH7 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin

Suggested Antigen Peptide Sequences for CDH7 Gene

GenScript: Design optimal peptide antigens:
  • Cadherin-7 (CADH7_HUMAN)
  • Cadherin-7 (O60574_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULB5

UniProtKB/Swiss-Prot:

CADH7_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 CDH7: view

Function for CDH7 Gene

Molecular function for CDH7 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.
GENATLAS Biochemistry:
BH-cadherin chicken cadherin 7-like,transmembrane glycoprotein component of adherens junction,with two alternatively spliced isoforms,the major transcript predominantly expressed in the brain,putatively involved in synaptic adhesion,axon outgrowth and guidance,heart,the minor expressed in several cancer lines

Phenotypes From GWAS Catalog for CDH7 Gene

Gene Ontology (GO) - Molecular Function for CDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0045296 cadherin binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CDH7: view
genes like me logo Genes that share phenotypes with CDH7: view

Animal Models for research

  • Taconic Biosciences Mouse Models for CDH7

miRNA for CDH7 Gene

miRTarBase miRNAs that target CDH7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDH7 Gene

Localization for CDH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH7 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 CDH7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016342 catenin complex IBA 21873635
genes like me logo Genes that share ontologies with CDH7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDH7 Gene

Pathways & Interactions for CDH7 Gene

PathCards logo

SuperPathways for CDH7 Gene

SuperPathway Contained pathways
1 Cell junction organization
2 ERK Signaling
.61
.49
3 G12-G13 in Cellular Signaling
-
4 Nanog in Mammalian ESC Pluripotency
.61
5 Presenilin-Mediated Signaling
-
genes like me logo Genes that share pathways with CDH7: view

Pathways by source for CDH7 Gene

7 Qiagen pathways for CDH7 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • Presenilin-Mediated Signaling
  • Rho Family GTPases

Gene Ontology (GO) - Biological Process for CDH7 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 21873635
genes like me logo Genes that share ontologies with CDH7: view

No data available for SIGNOR curated interactions for CDH7 Gene

Drugs & Compounds for CDH7 Gene

(1) Drugs for CDH7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with CDH7: view

Transcripts for CDH7 Gene

mRNA/cDNA for CDH7 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH7

Alternative Splicing Database (ASD) splice patterns (SP) for CDH7 Gene

No ASD Table

Relevant External Links for CDH7 Gene

GeneLoc Exon Structure for
CDH7

Expression for CDH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH7 Gene

mRNA differential expression in normal tissues according to GTEx for CDH7 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x12.2), Brain - Cerebellum (x8.9), and Nerve - Tibial (x6.9).

Protein differential expression in normal tissues from HIPED for CDH7 Gene

This gene is overexpressed in Plasma (55.2) and Heart (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH7 Gene



Protein tissue co-expression partners for CDH7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH7

SOURCE GeneReport for Unigene cluster for CDH7 Gene:

Hs.657522

Evidence on tissue expression from TISSUES for CDH7 Gene

  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with CDH7: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH7 Gene

Orthologs for CDH7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDH7 29 30
  • 99.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CDH7 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CDH7 29 30
  • 91.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDH7 29 30
  • 89.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdh7 29 16 30
  • 88.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdh7 29
  • 88.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CDH7 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDH7 29 30
  • 83.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDH7 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdh7 29
  • 76.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii cdh7 29 30
  • 67.7 (n)
OneToMany
CDH7 (1 of 2) 30
  • 58 (a)
OneToMany
Species where no ortholog for CDH7 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)
  • 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 CDH7 Gene

ENSEMBL:
Gene Tree for CDH7 (if available)
TreeFam:
Gene Tree for CDH7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH7: view image
Alliance of Genome Resources:
Additional Orthologs for CDH7

Paralogs for CDH7 Gene

(25) SIMAP similar genes for CDH7 Gene using alignment to 3 proteins:

  • CADH7_HUMAN
  • F5H5X9_HUMAN
  • O60574_HUMAN
genes like me logo Genes that share paralogs with CDH7: view

Variants for CDH7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH7 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs113114953 Benign: not provided 65,862,722(+) G/A
NM_004361.5(CDH7):c.1669G>A (p.Val557Ile)
MISSENSE
rs114985920 Benign: not provided 65,762,848(+) G/A
NM_004361.5(CDH7):c.6G>A (p.Lys2=)
SYNONYMOUS
rs17075228 Benign: not provided 65,809,871(+) T/C
NM_004361.5(CDH7):c.378T>C (p.Asp126=)
SYNONYMOUS
rs17075245 Benign: not provided 65,814,579(+) G/A
NM_004361.5(CDH7):c.600G>A (p.Pro200=)
SYNONYMOUS
rs371954670 Likely Benign: not provided 65,859,703(+) C/G
NM_004361.5(CDH7):c.1495-5C>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDH7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDH7 Gene

Variant ID Type Subtype PubMed ID
dgv1625n106 CNV deletion 24896259
esv1000701 CNV deletion 20482838
esv1005846 CNV deletion 20482838
esv1064517 CNV insertion 17803354
esv1389809 CNV deletion 17803354
esv1954972 CNV deletion 18987734
esv2521787 CNV deletion 19546169
esv2717231 CNV deletion 23290073
esv3119346 CNV deletion 24192839
esv3304720 CNV mobile element insertion 20981092
esv3364230 CNV insertion 20981092
esv3413 CNV loss 18987735
esv3555529 CNV deletion 23714750
esv3583120 CNV loss 25503493
esv3584946 CNV gain 24956385
esv3642844 CNV loss 21293372
esv3893118 CNV gain 25118596
esv6192 CNV loss 19470904
nsv1067311 CNV loss 25217958
nsv1071856 CNV deletion 25765185
nsv1123188 CNV deletion 24896259
nsv458102 CNV loss 19166990
nsv510462 OTHER sequence alteration 20534489
nsv577157 CNV loss 21841781
nsv828267 CNV gain 20364138
nsv833675 CNV gain 17160897
nsv833676 CNV gain 17160897
nsv954124 CNV deletion 24416366
nsv954961 CNV deletion 24416366

Variation tolerance for CDH7 Gene

Residual Variation Intolerance Score: 3.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH7
Leiden Open Variation Database (LOVD)
CDH7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH7 Gene

Disorders for CDH7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CDH7 Gene - From: COP

Disorder Aliases PubMed IDs
waardenburg syndrome, type 2d
  • ws2d
charge syndrome
  • charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
craniofacial-deafness-hand syndrome
  • cdhs
choanal atresia, posterior
  • pca
waardenburg syndrome, type 4a
  • ws4a
- elite association - COSMIC cancer census association via MalaCards
Search CDH7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDH7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CDH7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH7 Gene

Publications for CDH7 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) 3 4 22
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration. (PMID: 19200257) Winklmeier A … Bosserhoff AK (Cancer science 2009) 3 22
  4. Identification of three human type-II classic cadherins and frequent heterophilic interactions between different subclasses of type-II classic cadherins. (PMID: 10861224) Shimoyama Y … Natori M (The Biochemical journal 2000) 3 4
  5. Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity. (PMID: 9615235) Kremmidiotis G … Callen DF (Genomics 1998) 2 3

Products for CDH7 Gene

Sources for CDH7 Gene