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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1824
Gene name	Desmocollin 2
Gene symbol	DSC2
Synonyms (NCBI Gene)	ARVD11CDHF2DG2DGII/IIIDSC3
Chromosome	18
Chromosome location	18q12.1
Summary	This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing f

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137941742	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs138643506	C>T	Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs138749562	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs142410803	G>A,C	Uncertain-significance, benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143342988	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 3 prime UTR variant
rs144799937	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs145476705	A>G,T	Likely-pathogenic, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs145560678	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147109895	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 3 prime UTR variant
rs147742157	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148185335	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs151024019	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922708	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs199918720	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200475862	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs201201194	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs370325533	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs374810953	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs377272752	CCT>-	Likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign, uncertain-significance	Inframe deletion, coding sequence variant
rs397514041	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514042	T>C	Uncertain-significance, pathogenic	Splice acceptor variant
rs397514043	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397517393	C>T	Likely-pathogenic	Splice donor variant
rs397517404	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs397517406	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397517408	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs746173561	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs758527425	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs769022411	G>A	Pathogenic	Stop gained, coding sequence variant
rs777688726	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728072	C>-	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant
rs794728073	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728075	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs794728077	C>AA	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs796756333	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs878853170	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039128	C>T	Likely-pathogenic	Splice acceptor variant
rs1060502989	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1064793731	A>G	Pathogenic	Splice donor variant
rs1064795963	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555637555	TATGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555638622	->AT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555638995	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555639134	A>C	Pathogenic	Stop gained, coding sequence variant
rs1555640396	->T	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1555640399	A>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1567971476	G>T	Pathogenic	Stop gained, coding sequence variant
rs1598572298	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1598592533	G>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

212

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019103	hsa-miR-335-5p	Microarray	18185580
MIRT025897	hsa-miR-7-5p	Microarray	17612493
MIRT030595	hsa-miR-24-3p	Microarray	19748357
MIRT053236	hsa-miR-25-3p	Luciferase reporter assayWestern blot	23836524
MIRT053236	hsa-miR-25-3p	Luciferase reporter assayWestern blot	23836524
MIRT437730	hsa-miR-29a-3p	MicroarrayqRT-PCR	22815788
MIRT437731	hsa-miR-29b-3p	MicroarrayqRT-PCR	22815788
MIRT437732	hsa-miR-29c-3p	MicroarrayqRT-PCR	22815788
MIRT945505	hsa-miR-199a-3p	CLIP-seq
MIRT945506	hsa-miR-199b-3p	CLIP-seq
MIRT945507	hsa-miR-217	CLIP-seq
MIRT945508	hsa-miR-23a	CLIP-seq
MIRT945509	hsa-miR-23b	CLIP-seq
MIRT945510	hsa-miR-23c	CLIP-seq
MIRT945511	hsa-miR-3129-5p	CLIP-seq
MIRT945512	hsa-miR-324-5p	CLIP-seq
MIRT945513	hsa-miR-34c-3p	CLIP-seq
MIRT945514	hsa-miR-3613-3p	CLIP-seq
MIRT945515	hsa-miR-362-5p	CLIP-seq
MIRT945516	hsa-miR-3688-3p	CLIP-seq
MIRT945517	hsa-miR-500b	CLIP-seq
MIRT945518	hsa-miR-548aa	CLIP-seq
MIRT945519	hsa-miR-548ac	CLIP-seq
MIRT945520	hsa-miR-548ae	CLIP-seq
MIRT945521	hsa-miR-548aj	CLIP-seq
MIRT945522	hsa-miR-548am	CLIP-seq
MIRT945523	hsa-miR-548c-3p	CLIP-seq
MIRT945524	hsa-miR-548d-3p	CLIP-seq
MIRT945525	hsa-miR-548g	CLIP-seq
MIRT945526	hsa-miR-548x	CLIP-seq
MIRT945527	hsa-miR-548z	CLIP-seq
MIRT945528	hsa-miR-607	CLIP-seq
MIRT945529	hsa-miR-1253	CLIP-seq
MIRT945530	hsa-miR-1297	CLIP-seq
MIRT945531	hsa-miR-137	CLIP-seq
MIRT945532	hsa-miR-181a	CLIP-seq
MIRT945533	hsa-miR-181b	CLIP-seq
MIRT945534	hsa-miR-181c	CLIP-seq
MIRT945535	hsa-miR-181d	CLIP-seq
MIRT945536	hsa-miR-185	CLIP-seq
MIRT945537	hsa-miR-25	CLIP-seq
MIRT945538	hsa-miR-26a	CLIP-seq
MIRT945539	hsa-miR-26b	CLIP-seq
MIRT945540	hsa-miR-29a	CLIP-seq
MIRT945541	hsa-miR-29b	CLIP-seq
MIRT945542	hsa-miR-29c	CLIP-seq
MIRT945543	hsa-miR-3164	CLIP-seq
MIRT945544	hsa-miR-3182	CLIP-seq
MIRT945545	hsa-miR-32	CLIP-seq
MIRT945546	hsa-miR-320e	CLIP-seq
MIRT945547	hsa-miR-329	CLIP-seq
MIRT945548	hsa-miR-362-3p	CLIP-seq
MIRT945549	hsa-miR-363	CLIP-seq
MIRT945550	hsa-miR-367	CLIP-seq
MIRT945551	hsa-miR-3671	CLIP-seq
MIRT945552	hsa-miR-3938	CLIP-seq
MIRT945553	hsa-miR-3941	CLIP-seq
MIRT945554	hsa-miR-4255	CLIP-seq
MIRT945555	hsa-miR-4262	CLIP-seq
MIRT945556	hsa-miR-4272	CLIP-seq
MIRT945557	hsa-miR-4306	CLIP-seq
MIRT945558	hsa-miR-4311	CLIP-seq
MIRT945559	hsa-miR-4325	CLIP-seq
MIRT945560	hsa-miR-4452	CLIP-seq
MIRT945561	hsa-miR-4465	CLIP-seq
MIRT945562	hsa-miR-4470	CLIP-seq
MIRT945563	hsa-miR-4644	CLIP-seq
MIRT945564	hsa-miR-4687-3p	CLIP-seq
MIRT945565	hsa-miR-4709-5p	CLIP-seq
MIRT945566	hsa-miR-4712-3p	CLIP-seq
MIRT945567	hsa-miR-4760-5p	CLIP-seq
MIRT945568	hsa-miR-4766-5p	CLIP-seq
MIRT945569	hsa-miR-548l	CLIP-seq
MIRT945570	hsa-miR-548m	CLIP-seq
MIRT945571	hsa-miR-570	CLIP-seq
MIRT945572	hsa-miR-576-3p	CLIP-seq
MIRT945573	hsa-miR-603	CLIP-seq
MIRT945574	hsa-miR-647	CLIP-seq
MIRT945575	hsa-miR-873	CLIP-seq
MIRT945576	hsa-miR-92a	CLIP-seq
MIRT945577	hsa-miR-92b	CLIP-seq
MIRT1979900	hsa-miR-1270	CLIP-seq
MIRT1979901	hsa-miR-129-5p	CLIP-seq
MIRT1979902	hsa-miR-194	CLIP-seq
MIRT1979903	hsa-miR-3128	CLIP-seq
MIRT1979904	hsa-miR-3150b-3p	CLIP-seq
MIRT1979905	hsa-miR-409-3p	CLIP-seq
MIRT1979906	hsa-miR-4420	CLIP-seq
MIRT1979907	hsa-miR-4422	CLIP-seq
MIRT945562	hsa-miR-4470	CLIP-seq
MIRT1979908	hsa-miR-4528	CLIP-seq
MIRT1979909	hsa-miR-4683	CLIP-seq
MIRT1979910	hsa-miR-4784	CLIP-seq
MIRT1979911	hsa-miR-513a-3p	CLIP-seq
MIRT945523	hsa-miR-548c-3p	CLIP-seq
MIRT1979912	hsa-miR-548n	CLIP-seq
MIRT1979913	hsa-miR-582-3p	CLIP-seq
MIRT1979914	hsa-miR-620	CLIP-seq
MIRT1979915	hsa-miR-653	CLIP-seq
MIRT2215113	hsa-miR-101	CLIP-seq
MIRT2215114	hsa-miR-1254	CLIP-seq
MIRT2215115	hsa-miR-1261	CLIP-seq
MIRT1979900	hsa-miR-1270	CLIP-seq
MIRT2215116	hsa-miR-128	CLIP-seq
MIRT2215117	hsa-miR-1283	CLIP-seq
MIRT2215118	hsa-miR-1286	CLIP-seq
MIRT2215119	hsa-miR-1290	CLIP-seq
MIRT2215120	hsa-miR-1291	CLIP-seq
MIRT2215121	hsa-miR-144	CLIP-seq
MIRT2215122	hsa-miR-148a	CLIP-seq
MIRT2215123	hsa-miR-148b	CLIP-seq
MIRT2215124	hsa-miR-152	CLIP-seq
MIRT2215125	hsa-miR-204	CLIP-seq
MIRT2215126	hsa-miR-2053	CLIP-seq
MIRT2215127	hsa-miR-2054	CLIP-seq
MIRT2215128	hsa-miR-21	CLIP-seq
MIRT2215129	hsa-miR-211	CLIP-seq
MIRT945507	hsa-miR-217	CLIP-seq
MIRT2215130	hsa-miR-218	CLIP-seq
MIRT945508	hsa-miR-23a	CLIP-seq
MIRT945509	hsa-miR-23b	CLIP-seq
MIRT945510	hsa-miR-23c	CLIP-seq
MIRT945540	hsa-miR-29a	CLIP-seq
MIRT945541	hsa-miR-29b	CLIP-seq
MIRT945542	hsa-miR-29c	CLIP-seq
MIRT2215131	hsa-miR-300	CLIP-seq
MIRT2215132	hsa-miR-3065-5p	CLIP-seq
MIRT2215133	hsa-miR-3116	CLIP-seq
MIRT2215134	hsa-miR-3121-5p	CLIP-seq
MIRT2215135	hsa-miR-3143	CLIP-seq
MIRT2215136	hsa-miR-3163	CLIP-seq
MIRT2215137	hsa-miR-3189-3p	CLIP-seq
MIRT2215138	hsa-miR-320a	CLIP-seq
MIRT2215139	hsa-miR-320b	CLIP-seq
MIRT2215140	hsa-miR-320c	CLIP-seq
MIRT2215141	hsa-miR-320d	CLIP-seq
MIRT2215142	hsa-miR-323-3p	CLIP-seq
MIRT945512	hsa-miR-324-5p	CLIP-seq
MIRT2215143	hsa-miR-328	CLIP-seq
MIRT945547	hsa-miR-329	CLIP-seq
MIRT2215144	hsa-miR-330-3p	CLIP-seq
MIRT2215145	hsa-miR-338-5p	CLIP-seq
MIRT2215146	hsa-miR-33a	CLIP-seq
MIRT2215147	hsa-miR-33b	CLIP-seq
MIRT945513	hsa-miR-34c-3p	CLIP-seq
MIRT2215148	hsa-miR-3607-3p	CLIP-seq
MIRT945514	hsa-miR-3613-3p	CLIP-seq
MIRT2215149	hsa-miR-3618	CLIP-seq
MIRT945548	hsa-miR-362-3p	CLIP-seq
MIRT945515	hsa-miR-362-5p	CLIP-seq
MIRT945551	hsa-miR-3671	CLIP-seq
MIRT2215150	hsa-miR-3684	CLIP-seq
MIRT2215151	hsa-miR-369-3p	CLIP-seq
MIRT2215152	hsa-miR-374a	CLIP-seq
MIRT2215153	hsa-miR-374b	CLIP-seq
MIRT2215154	hsa-miR-381	CLIP-seq
MIRT945553	hsa-miR-3941	CLIP-seq
MIRT2215155	hsa-miR-3977	CLIP-seq
MIRT1979905	hsa-miR-409-3p	CLIP-seq
MIRT2215156	hsa-miR-4261	CLIP-seq
MIRT2215157	hsa-miR-4276	CLIP-seq
MIRT2215158	hsa-miR-4287	CLIP-seq
MIRT1979907	hsa-miR-4422	CLIP-seq
MIRT2215159	hsa-miR-4429	CLIP-seq
MIRT2215160	hsa-miR-4469	CLIP-seq
MIRT2215161	hsa-miR-4496	CLIP-seq
MIRT2215162	hsa-miR-451b	CLIP-seq
MIRT2215163	hsa-miR-4652-3p	CLIP-seq
MIRT2215164	hsa-miR-4666-3p	CLIP-seq
MIRT2215165	hsa-miR-4679	CLIP-seq
MIRT1979909	hsa-miR-4683	CLIP-seq
MIRT2215166	hsa-miR-4684-5p	CLIP-seq
MIRT2215167	hsa-miR-4685-3p	CLIP-seq
MIRT2215168	hsa-miR-4694-3p	CLIP-seq
MIRT945565	hsa-miR-4709-5p	CLIP-seq
MIRT2215169	hsa-miR-4722-5p	CLIP-seq
MIRT2215170	hsa-miR-4794	CLIP-seq
MIRT2215171	hsa-miR-4795-3p	CLIP-seq
MIRT2215172	hsa-miR-4796-5p	CLIP-seq
MIRT2215173	hsa-miR-485-3p	CLIP-seq
MIRT2215174	hsa-miR-494	CLIP-seq
MIRT2215175	hsa-miR-495	CLIP-seq
MIRT945517	hsa-miR-500b	CLIP-seq
MIRT2215176	hsa-miR-502-5p	CLIP-seq
MIRT2215177	hsa-miR-507	CLIP-seq
MIRT2215178	hsa-miR-543	CLIP-seq
MIRT945518	hsa-miR-548aa	CLIP-seq
MIRT945519	hsa-miR-548ac	CLIP-seq
MIRT945524	hsa-miR-548d-3p	CLIP-seq
MIRT945525	hsa-miR-548g	CLIP-seq
MIRT2215179	hsa-miR-548p	CLIP-seq
MIRT945527	hsa-miR-548z	CLIP-seq
MIRT2215180	hsa-miR-557	CLIP-seq
MIRT2215181	hsa-miR-576-5p	CLIP-seq
MIRT2215182	hsa-miR-578	CLIP-seq
MIRT1979913	hsa-miR-582-3p	CLIP-seq
MIRT2215183	hsa-miR-587	CLIP-seq
MIRT2215184	hsa-miR-590-5p	CLIP-seq
MIRT945573	hsa-miR-603	CLIP-seq
MIRT945528	hsa-miR-607	CLIP-seq
MIRT1979914	hsa-miR-620	CLIP-seq
MIRT2215185	hsa-miR-633	CLIP-seq
MIRT2215186	hsa-miR-636	CLIP-seq
MIRT2215187	hsa-miR-661	CLIP-seq
MIRT2215188	hsa-miR-885-5p	CLIP-seq
MIRT2387116	hsa-miR-4699-3p	CLIP-seq
MIRT2387117	hsa-miR-4720-3p	CLIP-seq
MIRT2387118	hsa-miR-4775	CLIP-seq
MIRT2387119	hsa-miR-4804-3p	CLIP-seq
MIRT2387120	hsa-miR-548a-3p	CLIP-seq
MIRT2387121	hsa-miR-548e	CLIP-seq
MIRT2387122	hsa-miR-548f	CLIP-seq

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Transcription factor	Regulation	Reference
CDX1	Unknown	18819935
CDX2	Unknown	18819935

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IEA
GO:0001533	Component	Cornified envelope	TAS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21062920, 21220045
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	IDA	17963498, 23863954
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	2037591
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0009267	Process	Cellular response to starvation	IEA
GO:0014704	Component	Intercalated disc	IDA	21062920, 21220045, 23863954
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030057	Component	Desmosome	IBA
GO:0030057	Component	Desmosome	IDA	17963498, 21062920, 21220045
GO:0030057	Component	Desmosome	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	21062920
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0086042	Process	Cardiac muscle cell-cardiac muscle cell adhesion	IMP	21062920
GO:0086073	Process	Bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP	23863954
GO:0086083	Function	Cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	IC	23863954
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	23863954
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	23863954
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	IMP	26763450

MIM	HGNC	e!Ensembl
125645	3036	ENSG00000134755

Q02487

Protein name

Desmocollin-2 (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III)

Protein function

A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:33596089). Promotes timely incorporation of DSG2 into desmosome intercellular junctions and promotes interaction of desmosome ce

PDB

5ERP , 5J5J , 7A7D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08758	Cadherin_pro	30 → 113	Cadherin prodomain like	Domain
PF00028	Cadherin	140 → 234	Cadherin domain	Domain
PF00028	Cadherin	248 → 346	Cadherin domain	Domain
PF00028	Cadherin	360 → 463	Cadherin domain	Domain
PF00028	Cadherin	476 → 568	Cadherin domain	Domain
PF01049	Cadherin_C	798 → 901	Cadherin cytoplasmic region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at intercalated disks in the heart, where it is colocalized with CDH2 (at protein level) (PubMed:23863954, PubMed:33784018). Expressed in intestinal mucosal cells (at protein level) (PubMed:31967937). {ECO:0000269|PubMed:2386

Sequence

MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTA
ANLIHSSDPDFQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVL
KKRHTKEKVLRRAKRRWAPIPCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQ
EPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPELPLPLIIKIEDENDNY
PIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPT
TGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSY
VTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVV
KPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRM
KENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETI
KNGIYNITVLASDQGGRTCTGTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPD
EPIHGPPFDFSLESSTSEVQRMWRLKAINDTAARLSYQNDPPFGSYVVPITVRDRLGMSS
VTSLDVTLCDCITENDCTHRVDPRIGGGGVQLGKWAILAILLGIALLFCILFTLVCGASG
TSKQPKVIPDDLAQQNLIVSNTEAPGDDKVYSANGFTTQTVGASAQGVCGTVGSGIKNGG
QETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKVYL
CNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMK
R

Sequence length

901

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy		Keratinization Formation of the cornified envelope

3012

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Likely pathogenic; Pathogenic	rs2144788151, rs887847751, rs2144839173, rs145476705, rs397517393	RCV005402188 RCV002260438 RCV002260447 RCV000149890 RCV000039409
Arrhythmogenic right ventricular dysplasia 11	Likely pathogenic; Pathogenic	rs2144842978, rs2144812824, rs2144833653, rs2144850365, rs1451144520, rs1209546374, rs2144788151, rs1986951516, rs1555641322, rs2144800227, rs963715928, rs1986794200, rs2144799555, rs768389941, rs1373100329 View all (36 more)	RCV001378713 RCV001389693 RCV001380340 RCV001388180 RCV002496059 RCV001771794 RCV004795538 RCV001783146 RCV002545189 RCV001904439 RCV001993141 RCV001995527 RCV001970075 RCV001950141 RCV001903737 RCV001999444 RCV001886532 RCV002021211 RCV003089185 RCV002251694 RCV000458517 RCV005097751 RCV003110322 RCV000601575 RCV002727057 RCV002875593 RCV002848033 RCV003036784 RCV001854779 RCV003482201 RCV003518069 RCV003631797 RCV003631908 RCV003632276 RCV003632388 RCV003843033 RCV000018342 RCV005100629 RCV004593579 RCV000462858 RCV005056057 RCV000547700 RCV001854125 RCV000626328 RCV002529804 RCV000688459 RCV000820651 RCV002549286 RCV001057663 RCV001228853 RCV001235136 RCV001229863
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	Pathogenic	rs397514043	RCV000024331
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA	Pathogenic	rs878853170	RCV000224990
Cardiomyopathy	Likely pathogenic	rs747424133	RCV003487212
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs1986951516, rs963715928, rs145476705, rs2510953787, rs2510954942, rs2510953750, rs1986957498, rs886039128, rs909786635, rs2510952501, rs2510956114, rs2510955933, rs1598572298	RCV002414342 RCV004996152 RCV004019796 RCV002347635 RCV002340200 RCV002353461 RCV002404014 RCV000246983 RCV005567516 RCV004621858 RCV004517594 RCV004517596 RCV003169008
Dilated cardiomyopathy 1A	Likely pathogenic	rs794728072	RCV001256686

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arrhythmogenic right ventricular dysplasia 1	Conflicting classifications of pathogenicity	rs368299411, rs1452512048	RCV001256829 RCV001256685
Arrhythmogenic right ventricular dysplasia 9	Uncertain significance	rs1114167344	RCV000491245
Cardiac arrest	Benign; Likely benign	rs139399951	RCV000157171
Cardiac arrhythmia	Conflicting classifications of pathogenicity; Uncertain significance	rs201015785, rs774641579	RCV006255155 RCV006255170
Clear cell carcinoma of kidney	Benign; Likely benign	rs144242114	RCV005888719
Dilated cardiomyopathy 1S	Uncertain significance	rs763981974	RCV000491345
DSC2-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1268711423, rs75494355, rs2144821231, rs562001495, rs138749562, rs201201194, rs143342988, rs143040393, rs568391206, rs864622708, rs776784065, rs368082152, rs374262463, rs372979057, rs144242114 View all (13 more)	RCV003965901 RCV003966143 RCV004728825 RCV003895977 RCV003907419 RCV003965231 RCV003917691 RCV003955105 RCV003947543 RCV003977573 RCV004748663 RCV003967589 RCV003919897 RCV003932756 RCV003924865 RCV003944841 RCV003983118 RCV003900191 RCV003924944 RCV003934941 RCV003894867 RCV004748546 RCV003398606 RCV004723090 RCV003892695 RCV003936266 RCV003413789 RCV003953568
Familial isolated arrhythmogenic right ventricular dysplasia	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs369281243, rs1987150000, rs1335645459, rs768784624, rs1987412406, rs1185834011, rs772775522, rs1021990449, rs2144791194, rs776278152, rs1387501743, rs371192108, rs1987173870, rs745848441, rs2144843142 View all (493 more)	RCV004005137 RCV004005123 RCV004005071 RCV004808021 RCV004808018 RCV004005167 RCV004006791 RCV004006948 RCV004007022 RCV004006994 RCV004006973 RCV004007039 RCV004808063 RCV004808064 RCV004808066 RCV004007195 RCV004007170 RCV004008842 RCV004008811 RCV004008861 RCV004808087 RCV004808101 RCV004008813 RCV004008881 RCV004808103 RCV004808104 RCV004808113 RCV004808112 RCV004009017 RCV004009108 RCV004009155 RCV004009162 RCV004010999 RCV004808145 RCV004010885 RCV004808149 RCV003997424 RCV004010803 RCV004010989 RCV004011123 RCV004808151 RCV004010760 RCV004009172 RCV004011065 RCV004010825 RCV004009252 RCV004010836 RCV004011226 RCV004005363 RCV004005449 RCV004005499 RCV004011212 RCV004808229 RCV004005396 RCV003998167 RCV000148466 RCV003998301 RCV003998258 RCV003998185 RCV003998186 RCV003998260 RCV003998289 RCV003998188 RCV003998307 RCV003998184 RCV003998259 RCV003998187 RCV002308656 RCV000626335 RCV004808279 RCV004005726 RCV004808294 RCV004007368 RCV004007414 RCV004808342 RCV004808340 RCV004808357 RCV004009311 RCV003995655 RCV003995656 RCV003995657 RCV004806158 RCV003995658 RCV003995659 RCV004009456 RCV004009479 RCV004009527 RCV004009518 RCV004009487 RCV004007491 RCV003996604 RCV003996608 RCV003996603 RCV003996602 RCV003996601 RCV003996600 RCV003996599 RCV003996594 RCV003996598 RCV003996607 RCV003996597 RCV003996596 RCV004806167 RCV003996606 RCV003996595 RCV003996605 RCV004007514 RCV004007511 RCV004007521 RCV004007527 RCV004007555 RCV004007551 RCV004007563 RCV004007578 RCV004007661 RCV004007686 RCV004808392 RCV004007740 RCV003997055 RCV004806207 RCV003997672 RCV003997671 RCV003997699 RCV003997700 RCV003997725 RCV003997727 RCV003997726 RCV003998649 RCV003998650 RCV003998651 RCV003998886 RCV003998887 RCV003998944 RCV003998998 RCV003995718 RCV003995722 RCV003999012 RCV003999032 RCV003995744 RCV004011335 RCV004011349 RCV004011391 RCV004011430 RCV004011607 RCV004011608 RCV004011609 RCV004805549 RCV004011610 RCV004011611 RCV004011715 RCV004011721 RCV004005820 RCV004805627 RCV003996109 RCV003994632 RCV004014506 RCV004014603 RCV004014746 RCV004014799 RCV004014832 RCV004014836 RCV004014856 RCV004014862 RCV004014869 RCV004013765 RCV004013769 RCV004013835 RCV004013847 RCV004013854 RCV004014931 RCV004014947 RCV004014952 RCV004015064 RCV004015132 RCV004013970 RCV004014051 RCV004014061 RCV004014095 RCV004014110 RCV004014163 RCV004014195 RCV004014196 RCV004014202 RCV004014261 RCV004014287 RCV004014291 RCV004014310 RCV004007787 RCV004007914 RCV004007916 RCV004007918 RCV004008095 RCV004008185 RCV004013055 RCV004013109 RCV004013117 RCV004013282 RCV004013283 RCV004013290 RCV004013309 RCV004013371 RCV004013374 RCV004013376 RCV004013384 RCV004013392 RCV004014411 RCV004012315 RCV004012372 RCV004012373 RCV004012399 RCV004013409 RCV004013493 RCV004013552 RCV004013599 RCV004013639 RCV004012545 RCV004012593 RCV004012637 RCV004012727 RCV004012752 RCV004012818 RCV004012821 RCV004012845 RCV004010236 RCV004011829 RCV004011830 RCV004011898 RCV004013004 RCV004016333 RCV004016345 RCV004016359 RCV004011952 RCV004011976 RCV004011984 RCV004012027 RCV004012050 RCV004012053 RCV004012075 RCV004012088 RCV004012099 RCV004012104 RCV004012179 RCV004012181 RCV004012219 RCV004016575 RCV004016639 RCV004016726 RCV004016760 RCV004016863 RCV004012509 RCV004012523 RCV004016970 RCV004016978 RCV004008216 RCV004008263 RCV004009784 RCV004009901 RCV004009908 RCV004009946 RCV004015971 RCV004016043 RCV004016062 RCV004016113 RCV004016160 RCV004016170 RCV004016176 RCV004016183 RCV004015230 RCV004015337 RCV004016383 RCV004016404 RCV004016426 RCV004016497 RCV004016506 RCV004015415 RCV004015475 RCV004015552 RCV004015694 RCV004015695 RCV003995850 RCV003995852 RCV003995851 RCV003995849 RCV005355704 RCV003995919 RCV004806287 RCV004806288 RCV004000521 RCV004000471 RCV003996053 RCV004000357 RCV004000348 RCV004001862 RCV004001866 RCV004002178 RCV004001865 RCV004001868 RCV004001864 RCV004002176 RCV004001867 RCV004001869 RCV004806346 RCV004001863 RCV004002177 RCV004002294 RCV004003400 RCV004002257 RCV004806355 RCV004003436 RCV004003485 RCV004003489 RCV004003495 RCV004003611 RCV000148468 RCV003996117 RCV003996118 RCV003999352 RCV003999348 RCV003999350 RCV003999355 RCV003999351 RCV003999356 RCV003999353 RCV003999349 RCV003999354 RCV004002449 RCV004002450 RCV004002452 RCV004002471 RCV004002478 RCV004002528 RCV004002550 RCV004002635 RCV004002705 RCV004002687 RCV004002688 RCV004002696 RCV004002651 RCV004002691 RCV004002658 RCV004002660 RCV004807066 RCV004004059 RCV004004057 RCV004004056 RCV004004065 RCV004004064 RCV004004060 RCV004004055 RCV004004061 RCV004004062 RCV004807065 RCV004004058 RCV004004054 RCV004004063 RCV004806038 RCV003996430 RCV003996431 RCV003996432 RCV003996433 RCV003996434 RCV004806039 RCV003996435 RCV003996436 RCV003996437 RCV003996438 RCV003996439 RCV003996440 RCV003996441 RCV003996442 RCV003993761 RCV003996443 RCV004806040 RCV003996444 RCV003996445 RCV003996446 RCV003996447 RCV003996448 RCV003996449 RCV003996450 RCV003996451 RCV003999649 RCV004807103 RCV003999566 RCV004004249 RCV003999784 RCV003999643 RCV003999654 RCV003999651 RCV003999671 RCV003999736 RCV004807123 RCV003999945 RCV003999946 RCV003999947 RCV003999948 RCV003999927 RCV003999926 RCV004001471 RCV003999997 RCV004000008 RCV004001510 RCV004001402 RCV004001412 RCV004001395 RCV004001333 RCV004001405 RCV004001787 RCV004001643 RCV004001766 RCV004001564 RCV004001618 RCV004002860 RCV004807174 RCV004003055 RCV004003069 RCV004003146 RCV004003202 RCV004807220 RCV004003254 RCV004004391 RCV004004381 RCV004004435 RCV004807247 RCV004004436 RCV004000078 RCV004000086 RCV004000121 RCV004000203 RCV004000220 RCV004000253 RCV004807310 RCV004000252 RCV004000251 RCV004000249 RCV004000279 RCV004000282 RCV004000284 RCV004010484 RCV004008400 RCV004006445 RCV004006726 RCV004006409 RCV004010355 RCV004006419 RCV004006554 RCV004807411 RCV004807350 RCV004807413 RCV004010542 RCV004006501 RCV004006552 RCV005408728 RCV004008416 RCV004008424 RCV004008429 RCV004008707 RCV004006599 RCV004807416 RCV004008301 RCV004807447 RCV004010376 RCV004008650 RCV004010456 RCV004008384 RCV004006369 RCV004006730 RCV004006674 RCV004807365 RCV004010301 RCV004008365 RCV004006542 RCV004006499 RCV004010550 RCV004006448 RCV004807343 RCV004006395 RCV004008485 RCV004010309 RCV004010503 RCV004006652 RCV004010563 RCV004008689 RCV004006770 RCV004010267 RCV004006630 RCV004008736 RCV004807327 RCV004010314 RCV004010476 RCV004010368 RCV004010560 RCV004807315 RCV004807438 RCV004010475 RCV004006648 RCV004010365 RCV004807378 RCV004008506 RCV004006384 RCV004010490 RCV004008327 RCV004006658 RCV004008285 RCV004807338 RCV004006654 RCV004006566 RCV004006671 RCV004000305 RCV004006689 RCV004008548 RCV004010584 RCV004006645 RCV004008728 RCV004010392 RCV004006664 RCV004006773 RCV004008693 RCV004010264 RCV004006286 RCV004006471 RCV004010489 RCV003996565 RCV004014886 RCV004010743 RCV004807463 RCV004010643 RCV004010688 RCV004004873 RCV004004851 RCV004004909 RCV004004877 RCV004004922 RCV004004954 RCV004004952 RCV004005016
Gastric cancer	Conflicting classifications of pathogenicity	rs561653481	RCV005895084
Hepatocellular carcinoma	Benign	rs1790683	RCV005903891
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign	rs142410803, rs377272752, rs368082152, rs141873745, rs147742157	RCV000852735 RCV000852736 RCV000852738 RCV000497924 RCV000852737
Left ventricular hypertrophy	Uncertain significance	rs374178074	RCV000678702
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs730880076, rs1280691179, rs193922708	RCV000157174 RCV003318438 RCV003318335
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs561653481	RCV005895083
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs144242114	RCV005888720
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs561310777, rs727504578, rs869025387, rs1220979594, rs368089478, rs1255214987	RCV000143880 RCV003319180 RCV000208375 RCV003319261 RCV000852470 RCV001093566
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs139979318	RCV000622276
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs377439942, rs751861273, rs151024019, rs200056085	RCV000208017 RCV000208184 RCV000157173 RCV000157178
See cases	Conflicting classifications of pathogenicity	rs759513934	RCV002252315
Sudden unexplained death	Uncertain significance	rs727504578	RCV005054164
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs144242114	RCV005888721
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs144242114	RCV005888722

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrhythmias Cardiac	Associate	31484862, 34819141
Arrhythmogenic Right Ventricular Dysplasia	Associate	17033975, 20124997, 20152563, 20197793, 21636032, 21822014, 22214898, 24086444, 25390934, 25445213, 25497880, 25837155, 29178656, 31024045, 31484862 View all (5 more)
Arrhythmogenic Right Ventricular Dysplasia	Inhibit	35628349
Atrial Fibrillation	Associate	34819141
Breast Neoplasms	Associate	25809865
Bundle Branch Block	Associate	31484862
Carcinoma Hepatocellular	Associate	36367775
Cardiomyopathy Dilated	Associate	31024045
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	34819141
Cardiomyopathy Hypertrophic	Associate	34819141
Colitis	Inhibit	17088906
Colonic Neoplasms	Inhibit	17088906
Colorectal Neoplasms	Associate	18819935
Ectrodactyly cardiopathy dysmorphism	Associate	35819174
Esophageal Squamous Cell Carcinoma	Associate	25119898
Heart Failure	Associate	34819141
Lymphoma B Cell Marginal Zone	Associate	26850880
Neoplasm Metastasis	Associate	19723662
Neoplasm Metastasis	Inhibit	25119898
Neoplasms	Associate	25119898
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	34819141
Polycythemia Vera	Associate	35819174
Stomatitis Denture	Associate	23041753
Sudden Unexpected Death in Epilepsy	Associate	27135274
Tachycardia Ventricular	Associate	25497880, 34819141
Uniparental Disomy	Associate	32201174
Ventricular Fibrillation	Associate	31484862

DSC2 (desmocollin 2)