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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8642
Gene name	Dachsous cadherin-related 1
Gene symbol	DCHS1
Synonyms (NCBI Gene)	CDH19CDH25CDHR6FIB1MMVP2MVP2PCDH16VMLDS1
Chromosome	11
Chromosome location	11p15.4
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 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 (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003174	Process	Mitral valve development	IEA
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003183	Process	Mitral valve 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	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
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	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007389	Process	Pattern specification process	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9199196
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	9199196
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0016477	Process	Cell migration	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0032185	Process	Septin cytoskeleton organization	IEA
GO:0035329	Process	Hippo signaling	IEA
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
GO:0048565	Process	Digestive tract development	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0072006	Process	Nephron 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:0098609	Process	Cell-cell adhesion	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA

MIM	HGNC	e!Ensembl
603057	13681	ENSG00000166341

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

249

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitral valve prolapse, myxomatous 2	Pathogenic; Likely pathogenic	rs959285916, rs768737101	RCV001329124 RCV000201937
Van Maldergem syndrome 1	Pathogenic; Likely pathogenic	rs2134633746, rs2134634960, rs1318661642, rs2493843791, rs483352917, rs483352918, rs483352919	RCV001533165 RCV001548768 RCV002290411 RCV003223475 RCV000074481 RCV000074482 RCV000074483

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2493818203	-
Acute myeloid leukemia	Benign	rs117031105, rs114648582	RCV005918836 RCV005908331
Cardiomyopathy	Uncertain significance	rs770204157	RCV003448926
Clear cell carcinoma of kidney	Benign; Likely benign	rs117031105, rs56920123, rs147663065, rs77585323	RCV005918838 RCV005911710 RCV005908541 RCV005902711
Colorectal cancer	Benign	rs117031105	RCV005918839
Congenital heart disease	Conflicting classifications of pathogenicity; Uncertain significance	rs145099391, rs200084780, rs1383439621, rs137996181, rs1031503637	RCV005361535 RCV005361598 RCV005356283 RCV005356353 RCV005363323
DCHS1-related congenital anomalies of the kidney and urinary tract	Uncertain significance	rs574706163, rs919429958	RCV005255751 RCV005255774
DCHS1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs147152025, rs140561117, rs79559386, rs141901540, rs145939548, rs139849372, rs7924553, rs12292546, rs1262227131, rs138329507, rs367857980, rs147106756, rs770566798, rs372790879, rs117390152 View all (85 more)	RCV003985502 RCV003985505 RCV003985507 RCV003985509 RCV004738343 RCV003985508 RCV003985511 RCV003985514 RCV001825023 RCV001825024 RCV003985521 RCV003985525 RCV004738493 RCV003985533 RCV003985534 RCV003985541 RCV003985549 RCV003985545 RCV003985548 RCV003985546 RCV003985552 RCV003985553 RCV003985547 RCV004738668 RCV003985573 RCV003985572 RCV003985574 RCV003985576 RCV003985563 RCV004738595 RCV003985564 RCV003985565 RCV003985569 RCV003985570 RCV003985308 RCV004738728 RCV003985319 RCV003985606 RCV003985609 RCV003985615 RCV003985613 RCV003985587 RCV003985588 RCV003985628 RCV004738753 RCV004738776 RCV003985637 RCV003985639 RCV003985638 RCV003985643 RCV003985670 RCV003985645 RCV003985646 RCV003985668 RCV003985669 RCV003985674 RCV003985672 RCV003985662 RCV003985650 RCV003985657 RCV003985656 RCV003985663 RCV003985326 RCV003985369 RCV003985383 RCV003985400 RCV003985401 RCV003985423 RCV003985424 RCV003985466 RCV004738104 RCV003985469 RCV003985471 RCV003985470 RCV003985445 RCV003985440 RCV003985446 RCV004738048 RCV003985441 RCV003985443 RCV003985444 RCV003985442 RCV004738074 RCV003985451 RCV004738063 RCV003985453 RCV004738073 RCV003985447 RCV003985449 RCV003985452 RCV003985448 RCV003985454 RCV003985456 RCV003985460 RCV003985457 RCV003985455 RCV003985461 RCV003985464 RCV003985473 RCV003985472 RCV003985481
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	rs145939548, rs147663065	RCV005917634 RCV005908540
Glioma susceptibility 1	Benign	rs572329375	RCV005930513
Lung cancer	Benign	rs114648582	RCV005908333
Lymphedema	Uncertain significance	rs1244998197, rs1166183471, rs756609982, rs761692505	RCV003458876 RCV003458904 RCV003459014 RCV003459020
Malignant tumor of esophagus	Benign	rs117031105	RCV005918837
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs143767864	RCV005901188
Myoepithelial tumor	Uncertain significance	rs771972771	RCV002463957
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs145939548, rs117031105, rs144579019, rs77585323	RCV005917635 RCV005918841 RCV005902558 RCV005902712
Sarcoma	Benign	rs117031105, rs147663065, rs114648582	RCV005918840 RCV005908542 RCV005908332
Thymoma	Benign; Likely benign	rs56920123, rs77585323	RCV005911711 RCV005902713
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	rs753090271, rs56920123	RCV005934748 RCV005911712
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs117031105, rs56920123, rs151278380	RCV005918842 RCV005911713 RCV005908379

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)