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Aliases for CDH8 Gene

Aliases for CDH8 Gene

  • Cadherin 8 2 3 5
  • Cadherin 8, Type 2 2 3
  • Cadherin-8 3
  • Nbla04261 3

External Ids for CDH8 Gene

Previous GeneCards Identifiers for CDH8 Gene

  • GC16M052117
  • GC16M061772
  • GC16M061421
  • GC16M061462
  • GC16M060244
  • GC16M047556

Summaries for CDH8 Gene

Entrez Gene Summary for CDH8 Gene

  • This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDH8 Gene

CDH8 (Cadherin 8) is a Protein Coding gene. Diseases associated with CDH8 include Learning Disability and Autism. 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 CDH11.

UniProtKB/Swiss-Prot for CDH8 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.

Gene Wiki entry for CDH8 Gene

Additional gene information for CDH8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH8 Gene

Genomics for CDH8 Gene

GeneHancer (GH) Regulatory Elements for CDH8 Gene

Promoters and enhancers for CDH8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J062039 Promoter/Enhancer 0.8 EPDnew ENCODE 650.7 +0.6 583 0.2 MXI1 CDH8 GC16M061981
GH16J062037 Promoter 0.6 EPDnew 650.7 0.0 -4 0.1 MXI1 CDH8 GC16P062055
GH16J062035 Enhancer 0.3 ENCODE 650.7 +1.3 1313 0.1 SUZ12 CDH8 GC16M061981
GH16J062036 Enhancer 0.2 ENCODE 650.7 +1.8 1773 0.2 CDH8 GC16M061981
GH16J061742 Enhancer 0.2 FANTOM5 1.4 +294.0 294041 0.3 RN7SKP76 CDH8 GC16P061739
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDH8 gene promoter:
  • E47
  • Tal-1beta
  • Sox5
  • POU3F1
  • C/EBPalpha
  • NF-kappaB
  • NF-kappaB1
  • S8
  • HNF-3beta
  • NF-AT

Regulatory Element Products

Genomic Locations for CDH8 Gene

Genomic Locations for CDH8 Gene
389,794 bases
Minus strand
389,794 bases
Minus strand

Genomic View for CDH8 Gene

Genes around CDH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH8 Gene

Proteins for CDH8 Gene

  • Protein details for CDH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KWC1
    • Q14DC6
    • Q9ULB2

    Protein attributes for CDH8 Gene

    799 amino acids
    Molecular mass:
    88253 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAA35628.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for CDH8 Gene

Post-translational modifications for CDH8 Gene

  • Glycosylation at posLast=544544, Asn473, Asn463, Asn188, Asn57, and Asn33
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDH8 Gene

Domains & Families for CDH8 Gene

Gene Families for CDH8 Gene

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

Suggested Antigen Peptide Sequences for CDH8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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 CDH8: view

Function for CDH8 Gene

Molecular function for CDH8 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:
cadherin chicken cadherin 8,transmembrane glycoprotein component of adherens junction,expressed in brain,putatively involved in synaptic adhesion,axon outgrowth and guidance

Phenotypes From GWAS Catalog for CDH8 Gene

Gene Ontology (GO) - Molecular Function for CDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008092 cytoskeletal protein binding IBA --
GO:0042802 identical protein binding IEA --
GO:0042803 protein homodimerization activity IBA --
GO:0045296 cadherin binding IBA --
genes like me logo Genes that share ontologies with CDH8: view
genes like me logo Genes that share phenotypes with CDH8: view

Animal Models for CDH8 Gene

MGI Knock Outs for CDH8:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDH8 Gene

Localization for CDH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH8 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

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 CDH8 gene
Compartment Confidence
plasma membrane 5
extracellular 3
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005913 cell-cell adherens junction IBA --
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 CDH8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDH8 Gene

Pathways & Interactions for CDH8 Gene

genes like me logo Genes that share pathways with CDH8: view

Pathways by source for CDH8 Gene

Gene Ontology (GO) - Biological Process for CDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA --
GO:0007043 cell-cell junction assembly IBA --
GO:0007155 cell adhesion IEA,TAS 2059658
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with CDH8: view

No data available for SIGNOR curated interactions for CDH8 Gene

Drugs & Compounds for CDH8 Gene

(1) Drugs for CDH8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with CDH8: view

Transcripts for CDH8 Gene

mRNA/cDNA for CDH8 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(51) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CDH8 Gene

Cadherin 8, type 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDH8 Gene

No ASD Table

Relevant External Links for CDH8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CDH8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH8 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Brain - Cortex (x5.4), Brain - Putamen (basal ganglia) (x5.3), Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Caudate (basal ganglia) (x5.2), Brain - Anterior cingulate cortex (BA24) (x5.0), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for CDH8 Gene

This gene is overexpressed in Testis (49.6) and Placenta (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH8 Gene

Protein tissue co-expression partners for CDH8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDH8 Gene:


SOURCE GeneReport for Unigene cluster for CDH8 Gene:


mRNA Expression by UniProt/SwissProt for CDH8 Gene:

Tissue specificity: Mainly expressed in brain. Found in certain nerve cell lines, such as retinoblasts, glioma cells and neuroblasts.

Evidence on tissue expression from TISSUES for CDH8 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CDH8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH8 Gene

Orthologs for CDH8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CDH8 34 33
  • 99.71 (n)
(Monodelphis domestica)
Mammalia CDH8 34
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia CDH8 34
  • 94 (a)
(Bos Taurus)
Mammalia CDH8 34
  • 92 (a)
-- 34
  • 74 (a)
(Mus musculus)
Mammalia Cdh8 16 34 33
  • 91.36 (n)
(Rattus norvegicus)
Mammalia Cdh8 33
  • 91.2 (n)
(Canis familiaris)
Mammalia CDH8 34 33
  • 85.77 (n)
(Gallus gallus)
Aves CDH8 34 33
  • 82.77 (n)
(Anolis carolinensis)
Reptilia CDH8 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh8 33
  • 77.81 (n)
(Danio rerio)
Actinopterygii CDH8 34
  • 78 (a)
cdh8 33
  • 69.25 (n)
Species where no ortholog for CDH8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 CDH8 Gene

Gene Tree for CDH8 (if available)
Gene Tree for CDH8 (if available)
Evolutionary constrained regions (ECRs) for CDH8: view image

Paralogs for CDH8 Gene

Paralogs for CDH8 Gene

(22) SIMAP similar genes for CDH8 Gene using alignment to 8 proteins:

  • J3KT81_HUMAN
  • L8E7B0_HUMAN
  • L8E8U5_HUMAN
genes like me logo Genes that share paralogs with CDH8: view

Variants for CDH8 Gene

Sequence variations from dbSNP and Humsavar for CDH8 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000011171 -- 61,832,758(-) A/C intron_variant
rs1000013916 -- 61,959,071(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000015469 -- 61,981,799(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000016048 -- 61,653,765(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000022371 -- 61,680,983(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDH8 Gene

Variant ID Type Subtype PubMed ID
dgv845e212 CNV loss 25503493
dgv846e212 CNV loss 25503493
esv1995444 CNV deletion 18987734
esv2353108 CNV deletion 18987734
esv2593208 CNV deletion 19546169
esv2658938 CNV deletion 23128226
esv2662954 CNV deletion 23128226
esv2665598 CNV deletion 23128226
esv2677187 CNV deletion 23128226
esv2714611 CNV deletion 23290073
esv2714612 CNV deletion 23290073
esv2714613 CNV deletion 23290073
esv2714614 CNV deletion 23290073
esv2760437 CNV loss 21179565
esv2762088 CNV gain+loss 21179565
esv3553541 CNV deletion 23714750
esv3553542 CNV deletion 23714750
esv3582265 CNV loss 25503493
esv3582270 CNV loss 25503493
esv3582271 CNV loss 25503493
esv3582273 CNV loss 25503493
esv3638782 CNV loss 21293372
esv3638783 CNV loss 21293372
esv3638784 CNV loss 21293372
esv3638785 CNV loss 21293372
esv3638786 CNV loss 21293372
esv3638787 CNV loss 21293372
esv3638788 CNV loss 21293372
esv5221 CNV loss 18987735
esv6216 CNV loss 19470904
nsv103700 CNV deletion 16902084
nsv1070352 CNV deletion 25765185
nsv1109016 CNV deletion 24896259
nsv1110288 CNV duplication 24896259
nsv1129580 CNV tandem duplication 24896259
nsv1132873 CNV insertion 24896259
nsv1134557 CNV deletion 24896259
nsv1138459 CNV deletion 24896259
nsv1142879 CNV tandem duplication 24896259
nsv1148262 CNV insertion 26484159
nsv1148368 CNV duplication 26484159
nsv1149563 CNV insertion 26484159
nsv457500 CNV loss 19166990
nsv474579 CNV novel sequence insertion 20440878
nsv475993 CNV novel sequence insertion 20440878
nsv507822 OTHER sequence alteration 20534489
nsv572844 CNV loss 21841781
nsv572845 CNV loss 21841781
nsv572846 CNV loss 21841781
nsv817733 CNV gain 17921354
nsv827699 CNV loss 20364138
nsv827700 CNV loss 20364138
nsv833256 CNV gain 17160897
nsv958829 CNV deletion 24416366

Variation tolerance for CDH8 Gene

Residual Variation Intolerance Score: 5.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH8 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH8 Gene

Disorders for CDH8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDH8 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
learning disability
  • academic skill disorder
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search CDH8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDH8

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH8 Gene

Publications for CDH8 Gene

  1. Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue. (PMID: 2059658) Suzuki S … Tanihara H (Cell regulation 1991) 2 3 4 58
  2. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PMID: 21602797) Wright FA … Cutting GR (Nature genetics 2011) 3 44 58
  3. 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 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CDH8 Gene

Sources for CDH8 Gene

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