Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8642
Gene name Gene Name - the full gene name approved by the HGNC.	Dachsous cadherin-related 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DCHS1
Synonyms (NCBI Gene) Gene synonyms aliases	CDH19, CDH25, CDHR6, FIB1, MMVP2, MVP2, PCDH16, VMLDS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MVP2, VMLDS1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.4
Summary Summary of gene provided in NCBI Entrez 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 me

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141243126	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146434035	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150354113	G>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs184586428	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199544459	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201457110	C>T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs369091875	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs483352917	C>A	Pathogenic	Stop gained, coding sequence variant
rs483352918	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs483352919	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs768737101	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(23)

miRTarBase ID	miRNA	Experiments
MIRT1974350	hsa-miR-1207-5p	CLIP-seq
MIRT1974351	hsa-miR-4763-3p	CLIP-seq
MIRT1974350	hsa-miR-1207-5p	CLIP-seq
MIRT2209802	hsa-miR-1285	CLIP-seq
MIRT2209803	hsa-miR-138	CLIP-seq
MIRT2209804	hsa-miR-183	CLIP-seq
MIRT2209805	hsa-miR-1909	CLIP-seq
MIRT2209806	hsa-miR-3187-5p	CLIP-seq
MIRT2209807	hsa-miR-3614-5p	CLIP-seq
MIRT2209808	hsa-miR-378g	CLIP-seq
MIRT2209809	hsa-miR-4314	CLIP-seq
MIRT2209810	hsa-miR-4486	CLIP-seq
MIRT2209811	hsa-miR-4688	CLIP-seq
MIRT1974351	hsa-miR-4763-3p	CLIP-seq
MIRT2209812	hsa-miR-548q	CLIP-seq
MIRT2209813	hsa-miR-612	CLIP-seq
MIRT2209814	hsa-miR-659	CLIP-seq
MIRT2448078	hsa-miR-223	CLIP-seq
MIRT2448079	hsa-miR-28-5p	CLIP-seq
MIRT2448080	hsa-miR-3139	CLIP-seq
MIRT2448081	hsa-miR-4487	CLIP-seq
MIRT2448082	hsa-miR-4697-3p	CLIP-seq
MIRT2448083	hsa-miR-708	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA	21873635
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003192	Process	Mitral valve formation	IMP	26258302
GO:0003273	Process	Cell migration involved in endocardial cushion formation	IMP	26258302
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0007043	Process	Cell-cell junction assembly	IBA	21873635
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007389	Process	Pattern specification process	IEA
GO:0016020	Component	Membrane	NAS	9199196
GO:0016021	Component	Integral component of membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	21873635
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	9199196
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0034332	Process	Adherens junction organization	IBA	21873635
GO:0035329	Process	Hippo signaling	ISS
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0048565	Process	Digestive tract development	IEA
GO:0072137	Process	Condensed mesenchymal cell proliferation	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA	21873635

MIM	HGNC	e!Ensembl
603057	13681	ENSG00000166341

Protein

UniProt ID

Q96JQ0

Protein name

Protocadherin-16 (Cadherin-19) (Cadherin-25) (Fibroblast cadherin-1) (Protein dachsous homolog 1)

Protein 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 inv

PDB

8EGW , 8EGX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	149 → 246	Cadherin domain	Domain
PF00028	Cadherin	260 → 353	Cadherin domain	Domain
PF00028	Cadherin	372 → 463	Cadherin domain	Domain
PF00028	Cadherin	479 → 569	Cadherin domain	Domain
PF00028	Cadherin	583 → 675	Cadherin domain	Domain
PF00028	Cadherin	690 → 781	Cadherin domain	Domain
PF00028	Cadherin	795 → 885	Cadherin domain	Domain
PF00028	Cadherin	900 → 989	Cadherin domain	Domain
PF00028	Cadherin	1005 → 1096	Cadherin domain	Domain
PF00028	Cadherin	1111 → 1202	Cadherin domain	Domain
PF00028	Cadherin	1222 → 1312	Cadherin domain	Domain
PF00028	Cadherin	1442 → 1537	Cadherin domain	Domain
PF00028	Cadherin	1550 → 1640	Cadherin domain	Domain
PF00028	Cadherin	1654 → 1742	Cadherin domain	Domain
PF00028	Cadherin	1756 → 1846	Cadherin domain	Domain
PF00028	Cadherin	1860 → 1951	Cadherin domain	Domain
PF00028	Cadherin	2073 → 2162	Cadherin domain	Domain
PF00028	Cadherin	2176 → 2268	Cadherin domain	Domain
PF00028	Cadherin	2282 → 2367	Cadherin domain	Domain
PF00028	Cadherin	2381 → 2473	Cadherin domain	Domain
PF00028	Cadherin	2487 → 2593	Cadherin domain	Domain
PF00028	Cadherin	2607 → 2697	Cadherin domain	Domain
PF00028	Cadherin	2711 → 2804	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fibroblasts but not in melanocytes or keratinocytes. {ECO:0000269|PubMed:9199196}.

Sequence

MQKELGIVPSCPGMKSPRPHLLLPLLLLLLLLLGAGVPGAWGQAGSLDLQIDEEQPAGTL
IGDISAGLPAGTAAPLMYFISAQEGSGVGTDLAIDEHSGVVRTARVLDREQRDRYRFTAV
TPDGATVEVTVRVADINDHAPAFPQARAALQVPEHTAFGTRYPLEPARDADAGRLGTQGY
ALSGDGAGETFRLETRPGPDGTPVPELVVTGELDRENRSHYMLQLEAYDGGSPPRRAQAL
LDVTLLDINDHAPAFNQSRYHAVVSESLAPGSPVLQVFASDADAGVNGAVTYEINRRQSE
GDGPFSIDAHTGLLQLERPLDFEQRRVHELVVQARDGGAHPELGSAFVTVHVRDANDNQP
SMTVIFLSADGSPQVSEAAPPGQLVARISVSDPDDGDFAHVNVSLEGGEGHFALSTQDSV
IYLVCVARRLDREERDAYNLRVTATDSGSPPLRAEAAFVLHVTDVNDNAPAFDRQLYRPE
PLPEVALPGSFVVRVTARDPDQGTNGQVTYSLAPGAHTHWFSIDPTSGIITTAASLDYEL
EPQPQLIVVATDGGLPPLASSATVSVALQDVNDNEPQFQRTFYNASLPEGTQPGTCFLQV
TATDADSGPFGLLSYSLGAGLGSSGSPPFRIDAHSGDVCTTRTLDRDQGPSSFDFTVTAV
DGGGLKSMVYVKVFLSDENDNPPQFYPREYAASISAQSPPGTAVLRLRAHDPDQGSHGRL
SYHILAGNSPPLFTLDEQSGLLTVAWPLARRANSVVQLEIGAEDGGGLQAEPSARVDISI
VPGTPTPPIFEQLQYVFSVPEDVAPGTSVGIVQAHNPPGRLAPVTLSLSGGDPRGLFSLD
AVSGLLQTLRPLDRELLGPVLELEVRAGSGVPPAFAVARVRVLLDDVNDNSPAFPAPEDT
VLLPPNTAPGTPIYTLRALDPDSGVNSRVTFTLLAGGGGAFTVDPTTGHVRLMRPLGPSG
GPAHELELEARDGGSPPRTSHFRLRVVVQDVGTRGLAPRFNSPTYRVDLPSGTTAGTQVL
QVQAQAPDGGPITYHLAAEGASSPFGLEPQSGWLWVRAALDREAQELYILKVMAVSGSKA
ELGQQTGTATVRVSILNQNEHSPRLSEDPTFLAVAENQPPGTSVGRVFATDRDSGPNGRL
TYSLQQLSEDSKAFRIHPQTGEVTTLQTLDREQQSSYQLLVQVQDGGSPPRSTTGTVHVA
VLDLNDNSPTFLQASGAAGGGLPIQVPDRVPPGTLVTTLQAKDPDEGENGTILYTLTGPG
SELFSLHPHSGELLTAAPLIRAERPHYVLTLSAHDQGSPPRSASLQLLVQVLPSARLAEP
PPDLAERDPAAPVPVVLTVTAAEGLRPGSLLGSVAAPEPAGVGALTYTLVGGADPEGTFA
LDAASGRLYLARPLDFEAGPPWRALTVRAEGPGGAGARLLRVQVQVQDENEHAPAFARDP
LALALPENPEPGAALYTFRASDADGPGPNSDVRYRLLRQEPPVPALRLDARTGALSAPRG
LDRETTPALLLLVEATDRPANASRRRAARVSARVFVTDENDNAPVFASPSRVRLPEDQPP
GPAALHVVARDPDLGEAARVSYRLASGGDGHFRLHSSTGALSVVRPLDREQRAEHVLTVV
ASDHGSPPRSATQVLTVSVADVNDEAPTFQQQEYSVLLRENNPPGTSLLTLRATDPDVGA
NGQVTYGGVSSESFSLDPDTGVLTTLRALDREEQEEINLTVYAQDRGSPPQLTHVTVRVA
VEDENDHAPTFGSAHLSLEVPEGQDPQTLTMLRASDPDVGANGQLQYRILDGDPSGAFVL
DLASGEFGTMRPLDREVEPAFQLRIEARDGGQPALSATLLLTVTVLDANDHAPAFPVPAY
SVEVPEDVPAGTLLLQLQAHDPDAGANGHVTYYLGAGTAGAFLLEPSSGELRTAAALDRE
QCPSYTFSVSAVDGAAAGPLSTTVSVTITVRDVNDHAPTFPTSPLRLRLPRPGPSFSTPT
LALATLRAEDRDAGANASILYRLAGTPPPGTTVDSYTGEIRVARSPVALGPRDRVLFIVA
TDLGRPARSATGVIIVGLQGEAERGPRFPRASSEATIRENAPPGTPIVSPRAVHAGGTNG
PITYSILSGNEKGTFSIQPSTGAITVRSAEGLDFEVSPRLRLVLQAESGGAFAFTVLTLT
LQDANDNAPRFLRPHYVAFLPESRPLEGPLLQVEADDLDQGSGGQISYSLAASQPARGLF
HVDPTTGTITTTAILDREIWAETRLVLMATDRGSPALVGSATLTVMVIDTNDNRPTIPQP
WELRVSEDALLGSEIAQVTGNDVDSGPVLWYVLSPSGPQDPFSVGRYGGRVSLTGPLDFE
QCDRYQLQLLAHDGPHEGRANLTVLVEDVNDNAPAFSQSLYQVMLLEHTPPGSAILSVSA
TDRDSGANGHISYHLASPADGFSVDPNNGTLFTIVGTVALGHDGSGAVDVVLEARDHGAP
GRAARATVHVQLQDQNDHAPSFTLSHYRVAVTEDLPPGSTLLTLEATDADGSRSHAAVDY
SIISGNWGRVFQLEPRLAEAGESAGPGPRALGCLVLLEPLDFESLTQYNLTVAAADRGQP
PQSSVVPVTVTVLDVNDNPPVFTRASYRVTVPEDTPVGAELLHVEASDADPGPHGLVRFT
VSSGDPSGLFELDESSGTLRLAHALDCETQARHQLVVQAADPAGAHFALAPVTIEVQDVN
DHGPAFPLNLLSTSVAENQPPGTLVTTLHAIDGDAGAFGRLRYSLLEAGPGPEGREAFAL
NSSTGELRARVPFDYEHTESFRLLVGAADAGNLSASVTVSVLVTGEDEYDPVFLAPAFHF
QVPEGARRGHSLGHVQATDEDGGADGLVLYSLATSSPYFGINQTTGALYLRVDSRAPGSG
TATSGGGGRTRREAPRELRLEVIARGPLPGSRSATVPVTVDITHTALGLAPDLNLLLVGA
VAASLGVVVVLALAALVLGLVRARSRKAEAAPGPMSQAAPLASDSLQKLGREPPSPPPSE
HLYHQTLPSYGGPGAGGPYPRGGSLDPSHSSGRGSAEAAEDDEIRMINEFPRVASVASSL
AARGPDSGIQQDADGLSDTSCEPPAPDTWYKGRKAGLLLPGAGATLYREEGPPATATAFL
GGCGLSPAPTGDYGFPADGKPCVAGALTAIVAGEEELRGSYNWDYLLSWCPQFQPLASVF
TEIARLKDEARPCPPAPRIDPPPLITAVAHPGAKSVPPKPANTAAARAIFPPASHRSPIS
HEGSLSSAAMSPSFSPSLSPLAARSPVVSPFGVAQGPSASALSAESGLEPPDDTELHI

Sequence length

3298

Interactions

View interactions

	KEGG
	Hippo signaling pathway - multiple species

Show/Hide Causal Diseases (17)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cerebrofacioarticular syndrome	Van Maldergem Wetzburger Verloes syndrome, VAN MALDERGEM SYNDROME 1, Cerebrofacioarticular syndrome	rs483352917, rs483352918, rs483352919, rs398122953, rs398122954, rs398122955, rs370088878, rs398122956, rs398122957, rs963302668	24056717
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321 View all (13 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Mental retardation	Severe intellectual disability, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitral valve prolapse	Familial mitral valve prolapse, Mitral Valve Prolapse Syndrome, MITRAL VALVE PROLAPSE, MYXOMATOUS 2	rs768737101	26258302
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Periventricular heterotopia	Heterotopia, Periventricular, Autosomal Recessive	rs398122523, rs1555811929, rs1600623496, rs1380925561	24056717
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	rs398122410, rs1557177663, rs1557179349, rs1554054827, rs1554054831, rs1554054880, rs879036238, rs1558087795, rs1558087712, rs1580027036, rs1571844539, rs1580026238, rs2046707868, rs2059194330
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)
Subcortical band heterotopia	Subcortical Band Heterotopia	rs121434484, rs121434488, rs121434489
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney	ClinVar
Cerebrofacioarticular Syndrome	van Maldergem syndrome	GenCC
Mitral Valve Prolapse	familial mitral valve prolapse, mitral valve prolapse, myxomatous 2	GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Congenital Microtia	Associate	30691450
Death Sudden	Associate	26846766
Kidney Diseases	Associate	33225636
Kidney Failure Chronic	Associate	33225636
Mitral Valve Insufficiency	Associate	29224215
Mitral Valve Prolapse	Associate	26846766, 29224215, 33225636
Neoplasms	Associate	35065254
Personality Disorders	Associate	30285776
Stomach Neoplasms	Associate	35065254
Thoracic Diseases	Associate	26846766

DCHS1 (dachsous cadherin-related 1)