DCHS1 - dachsous cadherin-related 1 Gene

Homo sapiens

Also known as FIB1; MVP2; CDH19; CDH25; CDHR6; PCDH16; VMLDS1

Gene ID: 8642 | Gene type: protein coding

About DCHS1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,621,330-6,655,809 (from NCBI)

This gene has 2 transcripts (splice variants), 92 orthologues, 33 paralogues and is associated with 5 phenotypes. Ubiquitous expression in endometrium (RPKM 15.0), placenta (RPKM 6.8) and 22 other tissues.

Summary

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]

DCHS1 Products(1)

mRNA	Protein	Name
NM_003737.4	NP_003728.1	protocadherin-16 precursor

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell migration involved in endocardial cushion formation	IMP IMP: Inferred from mutant phenotype	26258302	GOA
involved in mitral valve formation	IMP IMP: Inferred from mutant phenotype	26258302	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DCHS1 Protein Structure

Cadherin

0
600
1200
1800
2400
3000
3298 a.a.

Protein Preferred Names

Protein Names

protocadherin-16

cadherin-19

Related Diseases

Diseases

Alias

Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome	VMLDS1
Van Maldergem Syndrome	Cerebro-Facio-Articular Syndrome
Van Maldergem Wetzburger Verloes Syndrome

Mitral Valve Prolapse 2

Mitral Valve Prolapse, Myxomatous 2	MVP2
Mmvp2	Myxomatous Mitral Valve Prolapse 2

Mitral Valve Prolapse 1

Mitral Valve Prolapse, Familial, Autosomal Dominant	Mitral Valve Prolapse, Familial, X-Linked
Mitral Valve Prolapse, Myxomatous 1	Myxomatous Mitral Valve Prolapse 1
Mitral Regurgitation, Familial	Barlow Syndrome
Myxomatous Valvular Disease, Familial	MVP1
Mmvp1	Mitral Valve Prolapse, Familial
Mvp Prolapsed Mitral Valve	Floppy Mitral Valve
Click-Murmur Syndrome	Mvp
Pmv	Prolapsed Mitral Valve
Familial Mitral Valve Prolapse	Mitral Valve Prolapse, Familial, X Linked
Mitral Valve Prolapse Syndrome

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome	Cerebro-Facio-Articular Syndrome
Cerebro-Facio-Articular Syndrome Of Van Maldergem	Cerebrofacioarticular Syndrome
Cerebro Facio Articular Syndrome	Van Maldergem-Wetzburger-Verloes Syndrome

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Pseudopterygium

Renal Hypoplasia

Van Maldergem Syndrome 2

VMLDS2

Endocarditis

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome	Hennekam Lymphangiectasia-Lymphedema Syndrome
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome	Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome	Lymphangiectasies And Lymphedema Hennekam Type
Generalized Lymphatic Dysplasia	Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Achilles Bursitis

Achilles Bursitis Or Tendinitis	Capped Hock
Haglund'S Deformity	Haglund'S Disease
Osteochondritis Of The Talus

Mitral Valve Disease

Chronic Rheumatic Mitral Valve	Rheumatic Mitral Insufficiency
Disease Of Mitral Valve	Mitral Rh Valve Dis.
Rheumatic Disease Of Mitral Valve	Rheumatic Mitral Valve Changes
Rheumatic Mitral Valve Incompetence	Rheumatic Mitral Valve Regurgitation
Abnormality Of The Mitral Valve	Diseases Of Mitral Valve
Rheumatic Mitral Regurgitation

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities	Fetal Face Syndrome
Robinow Dwarfism	Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome	Costovertebral Segmentation Defect With Mesomelia
Covesdem Syndrome	Robinow'S Syndrome
Robinow-Silverman Syndrome

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03575	DCHS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DCHS1	VGNC	VGNC:71619
Rattus norvegicus	DCHS1	RGD	RGD:1309878
Bos taurus	DCHS1	VGNC	VGNC:27913
Canis familiaris	DCHS1	VGNC	VGNC:52251
Mus musculus	DCHS1	MGD	MGI:2685011

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