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Aliases for DCHS1 Gene

Aliases for DCHS1 Gene

  • Dachsous Cadherin-Related 1 2 3 5
  • Cadherin-Related Family Member 6 2 3
  • Protein Dachsous Homolog 1 3 4
  • Cadherin-19 3 4
  • Cadherin-25 3 4
  • PCDH16 3 4
  • CDH25 3 4
  • CDH19 3 4
  • FIB1 3 4
  • Fibroblast Cadherin FIB1 3
  • Dachsous 1 (Drosophila) 2
  • Fibroblast Cadherin 1 3
  • Fibroblast Cadherin-1 4
  • Protocadherin 16 2
  • Protocadherin-16 3
  • KIAA1773 4
  • VMLDS1 3
  • CDHR6 3
  • MVP2 3

External Ids for DCHS1 Gene

Previous HGNC Symbols for DCHS1 Gene

  • CDH25
  • PCDH16

Previous GeneCards Identifiers for DCHS1 Gene

  • GC11M006599
  • GC11M006301

Summaries for DCHS1 Gene

Entrez Gene Summary for DCHS1 Gene

  • This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

GeneCards Summary for DCHS1 Gene

DCHS1 (Dachsous Cadherin-Related 1) is a Protein Coding gene. Diseases associated with DCHS1 include Van Maldergem Syndrome 1 and Mitral Valve Prolapse 2. Among its related pathways are G12-G13 in Cellular Signaling and ERK Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT4.

UniProtKB/Swiss-Prot for DCHS1 Gene

  • Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302).

Gene Wiki entry for DCHS1 Gene

Additional gene information for DCHS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCHS1 Gene

Genomics for DCHS1 Gene

Regulatory Elements for DCHS1 Gene

Enhancers for DCHS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H006654 1.2 FANTOM5 ENCODE 14.7 +0.1 96 3 FOXA2 MLX RARA ZNF366 EGR2 HMG20B SP5 ZNF398 NR2F2 ZNF184 RRP8 FAM160A2 DCHS1 ENSG00000254641 LOC100506258 LOC644169 ILK APBB1 OR2D2 TRIM3
GH11H006601 1.4 ENCODE dbSUPER 10.6 +48.4 48358 12 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 RRP8 ILK FAM160A2 CAVIN3 DNHD1 ENSG00000254641 DCHS1 ENSG00000254400
GH11H006616 1.3 ENCODE dbSUPER 7.8 +37.4 37437 3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 FOS RRP8 OLFML1 MRPL17 RPL21P94 LOC644169 TIMM10B DCHS1 ILK ENSG00000255680 TAF10
GH11H006634 1.1 Ensembl ENCODE 8.1 +20.1 20118 3 RAD21 RARA EGR1 ETV6 CREM EGR2 REST NR2F2 ZNF592 SMARCA4 ILK MRPL17 RPL21P94 RRP8 DCHS1 ENSG00000255410
GH11H006638 0.7 ENCODE 12.7 +17.5 17539 0 CTCF MXI1 FOXA2 SAP130 MAX RAD21 RARA YY1 EGR1 NR2F6 DCHS1 ENSG00000255410
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCHS1 on UCSC Golden Path with GeneCards custom track

Promoters for DCHS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000036324 -46 1001 MAZ ZNF521 MTA2 ZNF266 ZNF398 ZNF366 ZNF184 POLR2A ZNF512 IKZF1

Genomic Location for DCHS1 Gene

Chromosome:
11
Start:
6,621,323 bp from pter
End:
6,655,854 bp from pter
Size:
34,532 bases
Orientation:
Minus strand

Genomic View for DCHS1 Gene

Genes around DCHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCHS1 Gene

Proteins for DCHS1 Gene

  • Protein details for DCHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JQ0-PCD16_HUMAN
    Recommended name:
    Protocadherin-16
    Protein Accession:
    Q96JQ0
    Secondary Accessions:
    • O15098

    Protein attributes for DCHS1 Gene

    Size:
    3298 amino acids
    Molecular mass:
    346181 Da
    Quaternary structure:
    • Heterophilic interaction with FAT4; this interaction affects their respective protein levels.
    SequenceCaution:
    • Sequence=BAB61903.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DCHS1 Gene

Post-translational modifications for DCHS1 Gene

  • Glycosylation at posLast=217217, isoforms=256, isoforms=402, posLast=584584, posLast=12491249, isoforms=1521, isoforms=1718, posLast=19961996, isoforms=2361, isoforms=2428, isoforms=2569, posLast=27612761, isoforms=2792, and isoforms=2862
  • Modification sites at PhosphoSitePlus

Other Protein References for DCHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCHS1 Gene

Domains & Families for DCHS1 Gene

Gene Families for DCHS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for DCHS1 Gene

Suggested Antigen Peptide Sequences for DCHS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCHS1: view

No data available for UniProtKB/Swiss-Prot for DCHS1 Gene

Function for DCHS1 Gene

Molecular function for DCHS1 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302).

Gene Ontology (GO) - Molecular Function for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DCHS1: view
genes like me logo Genes that share phenotypes with DCHS1: view

Human Phenotype Ontology for DCHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCHS1 Gene

MGI Knock Outs for DCHS1:

Animal Model Products

CRISPR Products

miRNA for DCHS1 Gene

miRTarBase miRNAs that target DCHS1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DCHS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for DCHS1 Gene

Localization for DCHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCHS1 Gene

Cell membrane; Single-pass type I membrane protein. Note=In the embryonic cortex, FAT4 and DCHS1 accumulated at the cell-cell boundaries located apical to the adherens junction. {ECO:0000250}.

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 DCHS1 gene
Compartment Confidence
plasma membrane 5
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane NAS 9199196
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with DCHS1: view

Pathways & Interactions for DCHS1 Gene

genes like me logo Genes that share pathways with DCHS1: view

Pathways by source for DCHS1 Gene

Gene Ontology (GO) - Biological Process for DCHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0003183 mitral valve morphogenesis IEA --
GO:0003192 mitral valve formation IMP 26258302
genes like me logo Genes that share ontologies with DCHS1: view

No data available for SIGNOR curated interactions for DCHS1 Gene

Drugs & Compounds for DCHS1 Gene

(1) Drugs for DCHS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with DCHS1: view

Transcripts for DCHS1 Gene

mRNA/cDNA for DCHS1 Gene

Unigene Clusters for DCHS1 Gene

Dachsous 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DCHS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DCHS1 Gene

No ASD Table

Relevant External Links for DCHS1 Gene

GeneLoc Exon Structure for
DCHS1
ECgene alternative splicing isoforms for
DCHS1

Expression for DCHS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCHS1 Gene

Protein differential expression in normal tissues from HIPED for DCHS1 Gene

This gene is overexpressed in Fetal Brain (31.3) and Liver, secretome (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DCHS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DCHS1 Gene:

DCHS1

SOURCE GeneReport for Unigene cluster for DCHS1 Gene:

Hs.199850

mRNA Expression by UniProt/SwissProt for DCHS1 Gene:

Q96JQ0-PCD16_HUMAN
Tissue specificity: Expressed in fibroblasts but not in melanocytes or keratinocytes.

Evidence on tissue expression from TISSUES for DCHS1 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCHS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DCHS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for DCHS1 Gene

Orthologs for DCHS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCHS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCHS1 33 34
  • 98.26 (n)
dog
(Canis familiaris)
Mammalia DCHS1 33 34
  • 90.41 (n)
cow
(Bos Taurus)
Mammalia DCHS1 33 34
  • 89.32 (n)
mouse
(Mus musculus)
Mammalia Dchs1 33 16 34
  • 87.35 (n)
rat
(Rattus norvegicus)
Mammalia Dchs1 33
  • 87.15 (n)
oppossum
(Monodelphis domestica)
Mammalia DCHS1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 23 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DCHS1 33 34
  • 64.18 (n)
lizard
(Anolis carolinensis)
Reptilia DCHS1 34
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dchs1b 33 34
  • 56.71 (n)
dchs1a 34
  • 51 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007905 33
  • 47.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta ds 33 34
  • 46.92 (n)
worm
(Caenorhabditis elegans)
Secernentea cdh-1 33 34
  • 40.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for DCHS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DCHS1 Gene

ENSEMBL:
Gene Tree for DCHS1 (if available)
TreeFam:
Gene Tree for DCHS1 (if available)

Paralogs for DCHS1 Gene

Paralogs for DCHS1 Gene

(5) SIMAP similar genes for DCHS1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DCHS1: view

Variants for DCHS1 Gene

Sequence variations from dbSNP and Humsavar for DCHS1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs148882462 A colorectal cancer sample 6,630,047(+) CAGCC(A/C/G)ATAGG reference, missense
rs201457110 Pathogenic, Mitral valve prolapse 2 (MVP2) [MIM:607829] 6,624,138(+) GGCTG(C/T)GGCTT reference, missense
rs483352919 Pathogenic, Van Maldergem syndrome 1 (VMLDS1) [MIM:601390] 6,625,235(-) TGTCA(A/G/T)TGACA reference, missense
rs768737101 Pathogenic, Mitral valve prolapse 2 (MVP2) [MIM:607829] 6,625,356(+) GACAC(A/G)GCCTC reference, missense
rs483352917 Pathogenic 6,633,009(-) CCCGA(G/T)GACTC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for DCHS1 Gene

Variant ID Type Subtype PubMed ID
esv24387 CNV gain 19812545
esv3625267 CNV loss 21293372
nsv1035138 CNV gain 25217958
nsv553373 CNV loss 21841781
nsv553374 CNV loss 21841781
nsv825755 CNV gain 20364138
nsv951304 CNV deletion 24416366

Variation tolerance for DCHS1 Gene

Residual Variation Intolerance Score: 87.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.10; 87.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCHS1 Gene

Human Gene Mutation Database (HGMD)
DCHS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCHS1 Gene

Disorders for DCHS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DCHS1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van maldergem syndrome 1
  • van maldergem syndrome
mitral valve prolapse 2
  • mitral valve prolapse, myxomatous 2
mitral valve prolapse, myxomatous 1
  • familial mitral valve prolapse
van maldergem syndrome
  • cerebro-facio-articular syndrome
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DCHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCD16_HUMAN
  • Mitral valve prolapse 2 (MVP2) [MIM:607829]: A form of mitral valve prolapse, a valvular hearth disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery. {ECO:0000269 PubMed:26258302}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. {ECO:0000269 PubMed:24056717}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DCHS1

Genetic Association Database (GAD)
DCHS1
Human Genome Epidemiology (HuGE) Navigator
DCHS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DCHS1
genes like me logo Genes that share disorders with DCHS1: view

No data available for Genatlas for DCHS1 Gene

Publications for DCHS1 Gene

  1. Multiple cadherins are expressed in human fibroblasts. (PMID: 9199196) Matsuyoshi N … Imamura S (Biochemical and biophysical research communications 1997) 2 3 4 60
  2. Mutations in DCHS1 cause mitral valve prolapse. (PMID: 26258302) Durst R … Slaugenhaupt SA (Nature 2015) 3 4 60
  3. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. (PMID: 24056717) Cappello S … Robertson SP (Nature genetics 2013) 3 4 60
  4. 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 45 60
  5. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. (PMID: 11597768) Nakajima D … Ohara O (Brain research. Molecular brain research 2001) 3 4 60

Products for DCHS1 Gene

Sources for DCHS1 Gene

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