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Aliases for CDH12 Gene

Aliases for CDH12 Gene

  • Cadherin 12, Type 2 (N-Cadherin 2) 2 3
  • Neural Type Cadherin 2 3 4
  • Brain Cadherin 3 4
  • N-Cadherin 2 3 4
  • Br-Cadherin 3 4
  • Cadherin, Neural Type, 2 3
  • Neuronal Cadherin 2 3
  • Brain-Cadherin 3
  • CDHB 3

External Ids for CDH12 Gene

Previous GeneCards Identifiers for CDH12 Gene

  • GC05M021436
  • GC05M022187
  • GC05M021750
  • GC05M021796
  • GC05M021604

Summaries for CDH12 Gene

Entrez Gene Summary for CDH12 Gene

  • This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. 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. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]

GeneCards Summary for CDH12 Gene

CDH12 (Cadherin 12, Type 2 (N-Cadherin 2)) is a Protein Coding gene. Diseases associated with CDH12 include cri-du-chat syndrome. Among its related pathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH19.

UniProtKB/Swiss-Prot for CDH12 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 CDH12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH12 Gene

Genomics for CDH12 Gene

Regulatory Elements for CDH12 Gene

Genomic Location for CDH12 Gene

Chromosome:
5
Start:
21,750,673 bp from pter
End:
22,853,622 bp from pter
Size:
1,102,950 bases
Orientation:
Minus strand

Genomic View for CDH12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CDH12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH12 Gene

Proteins for CDH12 Gene

  • Protein details for CDH12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55289-CAD12_HUMAN
    Recommended name:
    Cadherin-12
    Protein Accession:
    P55289
    Secondary Accessions:
    • B2RBT1
    • B7Z2U6
    • Q86UD2

    Protein attributes for CDH12 Gene

    Size:
    794 amino acids
    Molecular mass:
    88332 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CDH12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH12 Gene

Proteomics data for CDH12 Gene at MOPED

Post-translational modifications for CDH12 Gene

  • Glycosylation at Asn 256, Asn 456, Asn 537, and Asn 545
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH12 Gene

Antibody Products

No data available for DME Specific Peptides for CDH12 Gene

Domains & Families for CDH12 Gene

Gene Families for CDH12 Gene

Suggested Antigen Peptide Sequences for CDH12 Gene

Graphical View of Domain Structure for InterPro Entry

P55289

UniProtKB/Swiss-Prot:

CAD12_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.
  • Contains 5 cadherin domains.
genes like me logo Genes that share domains with CDH12: view

Function for CDH12 Gene

Molecular function for CDH12 Gene

GENATLAS Biochemistry:
cadherin 12,Br-(N) cadherin,neuronal,transmembrane glycoprotein component of adherens junction,expressed in the brain,putatively involved in synaptic adhesion,axon outgrowth and guidance
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

Gene Ontology (GO) - Molecular Function for CDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with CDH12: view
genes like me logo Genes that share phenotypes with CDH12: view

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDH12

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CDH12 Gene

Localization for CDH12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH12 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CDH12 Gene COMPARTMENTS Subcellular localization image for CDH12 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CDH12: view

Pathways & Interactions for CDH12 Gene

genes like me logo Genes that share pathways with CDH12: view

Gene Ontology (GO) - Biological Process for CDH12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0034329 cell junction assembly TAS --
GO:0034332 adherens junction organization TAS --
GO:0045216 cell-cell junction organization TAS --
genes like me logo Genes that share ontologies with CDH12: view

No data available for SIGNOR curated interactions for CDH12 Gene

Drugs & Compounds for CDH12 Gene

(2) Drugs for CDH12 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cadherin Peptide, avian Pharma Role in cell adhesion 0
Calcium Nutra 0
genes like me logo Genes that share compounds with CDH12: view

Transcripts for CDH12 Gene

mRNA/cDNA for CDH12 Gene

Unigene Clusters for CDH12 Gene

Cadherin 12, type 2 (N-cadherin 2):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CDH12

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDH12 Gene

No ASD Table

Relevant External Links for CDH12 Gene

GeneLoc Exon Structure for
CDH12
ECgene alternative splicing isoforms for
CDH12

Expression for CDH12 Gene

mRNA expression in normal human tissues for CDH12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH12 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Frontal Cortex (BA9) (x4.8), Adrenal Gland (x4.4), and Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for CDH12 Gene

This gene is overexpressed in Liver (38.0) and Spleen (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDH12 Gene



SOURCE GeneReport for Unigene cluster for CDH12 Gene Hs.113684

mRNA Expression by UniProt/SwissProt for CDH12 Gene

P55289-CAD12_HUMAN
Tissue specificity: Brain
genes like me logo Genes that share expression patterns with CDH12: view

Protein tissue co-expression partners for CDH12 Gene

Primer Products

In Situ Assay Products

Orthologs for CDH12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDH12 35
  • 93.12 (n)
  • 97.48 (a)
CDH12 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CDH12 35
  • 92.61 (n)
  • 98.36 (a)
CDH12 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdh12 35
  • 89.67 (n)
  • 95.84 (a)
Cdh12 16
Cdh12 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDH12 35
  • 99.62 (n)
  • 99.87 (a)
CDH12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdh12 35
  • 89.42 (n)
  • 96.22 (a)
oppossum
(Monodelphis domestica)
Mammalia CDH12 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDH12 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDH12 35
  • 84.51 (n)
  • 92.95 (a)
CDH12 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDH12 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdh12 35
  • 75.91 (n)
  • 81.97 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-68h1.1 35
  • 66.11 (n)
  • 67.22 (a)
CDH12 (1 of 2) 36
  • 70 (a)
OneToMany
CDH12 (2 of 2) 36
  • 65 (a)
OneToMany
Species with no ortholog for CDH12:
  • 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 CDH12 Gene

ENSEMBL:
Gene Tree for CDH12 (if available)
TreeFam:
Gene Tree for CDH12 (if available)

Paralogs for CDH12 Gene

Paralogs for CDH12 Gene

(17) SIMAP similar genes for CDH12 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CDH12 Gene

genes like me logo Genes that share paralogs with CDH12: view

Variants for CDH12 Gene

Sequence variations from dbSNP and Humsavar for CDH12 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_014917 -
VAR_048505 -
VAR_048506 -
VAR_048507 -

Structural Variations from Database of Genomic Variants (DGV) for CDH12 Gene

Variant ID Type Subtype PubMed ID
nsv7369 OTHER Inversion 18451855
nsv880837 CNV Gain 21882294
nsv881330 CNV Loss 21882294
nsv880342 CNV Loss 21882294
dgv1782e1 CNV Complex 17122850
nsv428115 CNV Gain+Loss 18775914
dgv1783e1 CNV Complex 17122850
nsv880949 CNV Loss 21882294
nsv328954 CNV Insertion 16902084
nsv10684 CNV Loss 18304495
esv2675606 CNV Deletion 23128226
nsv10685 CNV Loss 18304495
esv2729914 CNV Deletion 23290073
esv2729915 CNV Deletion 23290073
esv2033765 CNV Deletion 18987734
nsv830230 CNV Gain 17160897
esv1005606 CNV Insertion 20482838
esv1373915 CNV Insertion 17803354
esv270095 CNV Insertion 20981092
dgv1784e1 CNV Complex 17122850
esv21518 CNV Gain+Loss 19812545
nsv327326 CNV Loss 16902084
nsv4761 CNV Insertion 18451855
nsv10686 CNV Gain+Loss 18304495
esv2534629 CNV Loss 19546169
nsv471371 CNV Duplication 19718026
nsv329065 CNV Loss 16902084
dgv5972n71 CNV Loss 21882294
nsv830231 CNV Gain 17160897
esv1672813 CNV Insertion 17803354
dgv5973n71 CNV Loss 21882294
esv2678078 CNV Deletion 23128226
esv33296 CNV Gain 17666407
esv2729916 CNV Deletion 23290073
esv2657445 CNV Deletion 23128226
nsv10687 CNV Gain 18304495
esv26842 CNV Gain 19812545
esv2527456 CNV Loss 19546169
esv2729919 CNV Deletion 23290073
esv2729920 CNV Deletion 23290073
esv2672622 CNV Deletion 23128226
esv2668800 CNV Deletion 23128226
nsv462009 CNV Loss 19166990
esv2729921 CNV Deletion 23290073
esv2729922 CNV Deletion 23290073
esv2729924 CNV Deletion 23290073
esv2729923 CNV Deletion 23290073
esv2678390 CNV Deletion 23128226
esv2729925 CNV Deletion 23290073
nsv880850 CNV Loss 21882294
nsv881183 CNV Loss 21882294
nsv823035 CNV Loss 20364138
nsv507236 CNV Insertion 20534489
esv269304 CNV Insertion 20981092
esv274433 CNV Insertion 20981092
nsv507237 CNV Insertion 20534489
esv2752064 CNV Loss 17911159
nsv327838 CNV Loss 16902084
nsv881356 CNV Loss 21882294
esv2673390 CNV Deletion 23128226
nsv830232 CNV Gain 17160897
esv2729926 CNV Deletion 23290073
esv2729927 CNV Deletion 23290073
esv2729928 CNV Deletion 23290073
dgv5974n71 CNV Loss 21882294
dgv5975n71 CNV Loss 21882294
dgv338n21 CNV Gain 19592680
nsv830233 CNV Loss 17160897
nsv509963 CNV Loss 20534489
esv2729930 CNV Deletion 23290073
esv3741 CNV Deletion 18987735
esv2676592 CNV Deletion 23128226
nsv327318 CNV Loss 16902084
nsv327391 CNV Loss 16902084

Variation tolerance for CDH12 Gene

Residual Variation Intolerance Score: 14.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.67; 94.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDH12 Gene

HapMap Linkage Disequilibrium report
CDH12
Human Gene Mutation Database (HGMD)
CDH12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH12 Gene

Disorders for CDH12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDH12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p partial monosomy syndrome
- elite association
Search CDH12 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CDH12

Genetic Association Database (GAD)
CDH12
Human Genome Epidemiology (HuGE) Navigator
CDH12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDH12
genes like me logo Genes that share disorders with CDH12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH12 Gene

Publications for CDH12 Gene

  1. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (PMID: 7731968) Selig S. … Kunkel L.M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 23 67
  2. Primate-specific spliced PMCHL RNAs are non-protein coding in human and macaque tissues. (PMID: 19068116) Schmieder S. … Nahon J.L. (BMC Evol. Biol. 2008) 23 67
  3. Ras association domain family 1C protein stimulates human lung cancer cell proliferation. (PMID: 16891396) Amaar Y.G. … Reeves M.E. (Am. J. Physiol. Lung Cell Mol. Physiol. 2006) 23 67
  4. The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. (PMID: 23502783) Weinhold N. … Hemminki K. (Nat. Genet. 2013) 67
  5. CDH12 promotes the invasion of salivary adenoid cystic carcinoma. (PMID: 21573496) Wang J.F. … Lu Y.G. (Oncol. Rep. 2011) 67

Products for CDH12 Gene

Sources for CDH12 Gene

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