DCHS1 dachsous cadherin-related 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCHS1provided by HGNC
Official Full Name: dachsous cadherin-related 1provided by HGNC
Primary source: HGNC:HGNC:13681
See related: Ensembl:ENSG00000166341 MIM:603057; AllianceGenome:HGNC:13681
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FIB1; MVP2; CDH19; CDH25; CDHR6; MMVP2; PCDH16; VMLDS1
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]
Expression: Ubiquitous expression in endometrium (RPKM 15.0), placenta (RPKM 6.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (6621330..6655809, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (6679797..6714267, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (6642561..6677040, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.
Title: Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.
MMVP2 was found on chromosome 11.
Title: A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.
De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.
Title: De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.
Structure of the planar cell polarity cadherins Fat4 and Dachsous1.
Title: Structure of the planar cell polarity cadherins Fat4 and Dachsous1.
DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk.
Title: DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk.
Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human Van Maldergem syndrome and Dchs1-Fat4 signalling is essential for osteoblast differentiation.
Title: Dchs1-Fat4 regulation of osteogenic differentiation in mouse.
p.R2330C and p.R2513H were not identified in this cohort. found eight missense variants including six considered deleterious. This includes one novel variant (p.A2464P) and two rare variants (p.R2770Q and p.R2462Q). These variants are predicted to be deleterious with combined annotation-dependent depletion (CADD) scores greater than 25, which are in the same range as p.R2330C (CADD = 28.0) and p.R2513H (CADD = 24.3).
Title: Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
The infant was diagnosed with van Maldergem syndrome on the basis of the clinical features and this was subsequently confirmed with genetic analysis, which indicated a homozygous mutation (c.7204G>A p. D2402N ) in the DCHS1 gene
Title: A newborn diagnosed with van Maldergem syndrome.
Study shows that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger.
Title: Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.
In sum, we establish Dchs1 as a component of the membrane domain surrounding the ciliary base. This suggests a specific role of Dchs1 in PCP-dependent organization of ciliary function and a possible role in lung disease.
Title: The atypical cadherin Dachsous1 localizes to the base of the ciliary apparatus in airway epithelia.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitral valve prolapse, myxomatous 2 MedGen: C1843003 OMIM: 607829 GeneReviews: Not available	not available
Van Maldergem syndrome 1 MedGen: C4551950 OMIM: 601390 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-08-31) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-08-31) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PCDH16_1801 (e-PCR)
- UniSTS:280891

SHGC-141500 (e-PCR)
- UniSTS:182384

RH94204 (e-PCR)
- UniSTS:88555

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS Non-traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration involved in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in condensed mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippo signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in mitral valve formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube development	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ossification involved in bone maturation	IEA Inferred from Electronic Annotation more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protocadherin-16

Names: cadherin-19; cadherin-25; cadherin-related family member 6; fibroblast cadherin 1; fibroblast cadherin FIB1; myxomatous mitral valve prolapse 2; protein dachsous homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033858.2 RefSeqGene

Range

5041..39520

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003737.4 → NP_003728.1 protocadherin-16 precursor

See identical proteins and their annotated locations for NP_003728.1

Status: REVIEWED

Source sequence(s)

AB053446, AC091564

Consensus CDS

CCDS7771.1

UniProtKB/Swiss-Prot

O15098, Q96JQ0

Related

ENSP00000299441.3, ENST00000299441.5

Conserved Domains (1) summary

cd11304
Location:1114 → 1207

Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

6621330..6655809 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

6679797..6714267 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_024542.1: Suppressed sequence

Description

NM_024542.1: This RefSeq was permanently suppressed because it is primarily UTR sequence and contains the wrong CDS.