DCHS1 - dachsous cadherin-related 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8642

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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03575	DCHS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20902	Dchs1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27419	Dchs1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	DCHS1	NCBI