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FLASH GENE
Symbol CDH13 contributors: mct - updated : 15-02-2019
HGNC name cadherin 13, H-cadherin (heart)
HGNC id 1753
Location 16q23.3      Physical location : 82.660.577 - 83.830.197
Synonym name
  • T-cadherin
  • heart cadherin
  • truncated cadherin
    • Synonym symbol(s) CDHH, T-CAD, H-CAD, P105, CADD
    EC.number 3.6.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 1169.82 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - [D16S534 - D16S422 - D16S402 ] - qter
    Text [CDH13 interval]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 polyA site 3842 78.3 713 - 2010 20039275
    also called variant 1, isoform 1
    15 - 4134 - 760 - 2010 20039275
    13 - 3911 - 674 - 2010 20039275
    13 - 3819 - 459 - 2010 20039275
    6 - 1006 - 175 - 2010 20039275
    5 - 955 - 190 - 2010 20039275
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellumcerebellar cortex  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic domain
  • five extracellular cadherin repeats with four cysteines in the most proximal (MPED)
  • a transmembrane segment and a highly conserved cytoplasmic tail required for interactions
  • lacks transmembrane and cytoplasmic domains and is anchored to the cell membrane via a glycosylphosphoinositol moiety
    • conjugated GlycoP
    mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Cdh13
    intraspecies homolog to CDH2
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope
    text
  • specifically expressed in Golgi cells within the cerebellar cortex
    • basic FUNCTION
  • mediating putatively cell-cell interaction in the heart
  • may act as a negative regulator of neural cell growth
  • playing an important role in cell recognition and adhesion
  • may modulate cell-matrix adhesion in basal keratinocytes as well as invasive potency in cutaneous squamous carcinoma by regulating surface level of beta1 integrin (ITGB1)
  • may have a role in hormone and drug-induced changes in bone morphology and pathology
  • may play an important role in controlling tissue cellularity during vascular remodeling
  • protects endothelial cells from oxidative stress-induced apoptosis
  • negative regulator for gallbladder cancer invasion
  • adhesive capacity is necessary to regulate neurite iutgrowth from CDH13-expressing neurons
  • is a novel component of insulin granules, suggesting that CDH13 contributes to the regulation of insulin secretion independently of direct interactions with ADIPOQ
  • CDH13 expression modulates signalling and functional responses of endothelial cells (EC) to insulin
  • translocation to cell-cell contacts is sensitive to the activity status of EGFR, requires lipid raft domain integrity and actin filament polymerization, and crucial intracellular signalling mediators include RAC1 and MAPK14
  • role for CDH13 in limb revascularization and it is essential for mediating the vascular actions of adiponectin
  • role of CDH13 in regulation of endothelial permeability and its possible engagement in endothelial dysfunction
  • CDH13, GRM8, ANK2, SLC16A6, ARSG, RIMBP2 and DCLK1 having role in hearing function
  • is involved in axonal pathway formation in the developing cortex
  • is a negative regulator of inhibitory synapses in the hippocampus
  • novel protective role for CDH13 in cortical neuron development
  • is a novel positive regulator of autophagy and survival in smooth muscle cells (SMCs)
  • is critical for inhibitory function of Golgi cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms dimer through an alternative nonswapped interface near the EC1-EC2 calcium binding sites
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding by its C terminus to the cytoskeleton via beta-catenin (hemophilic, calcium dependent interactions)
  • ADIPOQ accumulates in the vasculature via CDH13, and the ADIPOQ-CDH13 association plays a protective role against neointimal and atherosclerotic plaque formations
  • ADIPOQ, an adipocyte-derived circulating protein, accumulates in the heart, vascular endothelium, and skeletal muscles through an interaction with CDH13, a unique glycosylphosphatidylinositol-anchored cadherin
  • is an adiponectin receptor
    • cell & other
  • cell-cell interactions
  • cell-extracellular matrix interactions
    • REGULATION
    Other estradiol, progesterone, EGF, dexamethasone and factors are involved in transcriptional and post-transcriptional regulation of CDH13 in osteosarcoma cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in lung carcinoma
    tumoral     --low  
    hypermethylated or deleted in ovarian, breast, lung and in colorectal cancer and adenoma
    tumoral     --low  
    in diffuse large B cell lymphomas (B-DLCLs) by promoter hyper-methylation
    tumoral     --low  
    by promoter hypermethylation is a common, early event in esophageal adenocarcinogenesis and correlates with clinical risk factors
    tumoral     --low  
    in cutaneous squamous cell carcinoma
    Susceptibility
  • to Attention-deficit/hyperactivity disorder, ADHD
  • to type 2 diabetes (T2DM)
    • Variant & Polymorphism SNP
  • association between the SNP-rs12596316 genotype and T2DM
    • Candidate gene detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Cdh13 exhibit reduced cognitive flexibility and loss of preference for contact region concomitant with increased reciprocal social interactions