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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1824
Gene name Gene Name - the full gene name approved by the HGNC.	Desmocollin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DSC2
Synonyms (NCBI Gene) Gene synonyms aliases	ARVD11, CDHF2, DG2, DGII/III, DSC3
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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 assay, Western blot	23836524
MIRT053236	hsa-miR-25-3p	Luciferase reporter assay, Western blot	23836524
MIRT437730	hsa-miR-29a-3p	Microarray, qRT-PCR	22815788
MIRT437731	hsa-miR-29b-3p	Microarray, qRT-PCR	22815788
MIRT437732	hsa-miR-29c-3p	Microarray, qRT-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

Transcription factors

Show/Hide all(2)

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia 11	rs769022411, rs145476705, rs1598572298, rs794728072, rs1598592533, rs1987170019, rs878853170, rs1060502989, rs1064795963, rs1555639134, rs397514041, rs1555640399, rs746173561, rs1555637555	N/A
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	rs397517393, rs145476705	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1A	rs794728072	N/A
Arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair	arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	rs397514043	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenoma	colorectal adenoma	N/A	N/A	GenCC
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	N/A	N/A	GWAS
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Left Ventricular Hypertrophy	left ventricular hypertrophy	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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

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