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	667
Gene name	Dystonin
Gene symbol	DST
Synonyms (NCBI Gene)	BP240BPABPAG1CATX-15CATX15D6S1101DMHDTEBS3EBSB2HSAN6MACF2
Chromosome	6
Chromosome location	6p12.1
Summary	This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not

Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34767818	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs113432929	T>A	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs138553142	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs141573097	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs143101723	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs149007397	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs150845451	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs151271595	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs183804748	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, genic upstream transcript variant, downstream transcript variant, coding sequence variant
rs186813964	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201045495	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs201429821	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs370887046	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs373440035	T>C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, intron variant
rs375889300	C>A,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs376491126	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs398122819	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398122943	T>A,C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, intron variant
rs577972555	G>A,C,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, intron variant, missense variant, genic upstream transcript variant, stop gained
rs748845919	A>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs748899221	TTCT>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs759006806	->T	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs770035646	G>A,C	Pathogenic	Intron variant, coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs772099949	->T	Pathogenic	Intron variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs774625619	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant, genic upstream transcript variant
rs775912185	A>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs778397331	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs893650971	C>G,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs1057524203	G>A	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1242078669	G>A,C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1310802903	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1330945347	C>A,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1341890249	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1454639285	T>A	Uncertain-significance, likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1562435373	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1584328172	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1587154269	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant

221

Show/Hide all (221)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018347	hsa-miR-335-5p	Microarray	18185580
MIRT024665	hsa-miR-215-5p	Microarray	19074876
MIRT026612	hsa-miR-192-5p	Microarray	19074876
MIRT028321	hsa-miR-32-5p	Sequencing	20371350
MIRT050193	hsa-miR-26a-5p	CLASH	23622248
MIRT046995	hsa-miR-218-5p	CLASH	23622248
MIRT042022	hsa-miR-484	CLASH	23622248
MIRT040309	hsa-miR-615-3p	CLASH	23622248
MIRT704101	hsa-miR-553	HITS-CLIP	23313552
MIRT704100	hsa-miR-203b-5p	HITS-CLIP	23313552
MIRT704099	hsa-miR-6718-5p	HITS-CLIP	23313552
MIRT704098	hsa-miR-140-5p	HITS-CLIP	23313552
MIRT704097	hsa-miR-3119	HITS-CLIP	23313552
MIRT704096	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT704095	hsa-miR-4460	HITS-CLIP	23313552
MIRT537937	hsa-miR-548p	PAR-CLIP	22012620
MIRT537936	hsa-miR-8063	PAR-CLIP	22012620
MIRT537935	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT537934	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT537933	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT361124	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT537932	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT537931	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT537930	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT537929	hsa-miR-107	PAR-CLIP	22012620
MIRT537928	hsa-miR-6882-3p	PAR-CLIP	22012620
MIRT537927	hsa-miR-500a-3p	PAR-CLIP	22012620
MIRT537926	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT537925	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT537924	hsa-miR-5047	PAR-CLIP	22012620
MIRT440775	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440773	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440772	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440771	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT440770	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440775	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440773	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440772	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440771	hsa-miR-539-3p	HITS-CLIP	24374217
MIRT440770	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT704101	hsa-miR-553	HITS-CLIP	23313552
MIRT704100	hsa-miR-203b-5p	HITS-CLIP	23313552
MIRT704099	hsa-miR-6718-5p	HITS-CLIP	23313552
MIRT704098	hsa-miR-140-5p	HITS-CLIP	23313552
MIRT704097	hsa-miR-3119	HITS-CLIP	23313552
MIRT704096	hsa-miR-4662a-5p	HITS-CLIP	23313552
MIRT704095	hsa-miR-4460	HITS-CLIP	23313552
MIRT537937	hsa-miR-548p	PAR-CLIP	22012620
MIRT537936	hsa-miR-8063	PAR-CLIP	22012620
MIRT537935	hsa-miR-545-3p	PAR-CLIP	22012620
MIRT537934	hsa-miR-370-3p	PAR-CLIP	22012620
MIRT537933	hsa-miR-6893-3p	PAR-CLIP	22012620
MIRT361124	hsa-miR-3130-3p	PAR-CLIP	22012620
MIRT537932	hsa-miR-1468-3p	PAR-CLIP	22012620
MIRT537931	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT537930	hsa-miR-103a-3p	PAR-CLIP	22012620
MIRT537929	hsa-miR-107	PAR-CLIP	22012620
MIRT537928	hsa-miR-6882-3p	PAR-CLIP	22012620
MIRT537927	hsa-miR-500a-3p	PAR-CLIP	22012620
MIRT537926	hsa-miR-7156-3p	PAR-CLIP	22012620
MIRT537925	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT537924	hsa-miR-5047	PAR-CLIP	22012620
MIRT946269	hsa-miR-1298	CLIP-seq
MIRT946270	hsa-miR-130a	CLIP-seq
MIRT946271	hsa-miR-130b	CLIP-seq
MIRT946272	hsa-miR-301a	CLIP-seq
MIRT946273	hsa-miR-301b	CLIP-seq
MIRT946274	hsa-miR-30a	CLIP-seq
MIRT946275	hsa-miR-30b	CLIP-seq
MIRT946276	hsa-miR-30c	CLIP-seq
MIRT946277	hsa-miR-30d	CLIP-seq
MIRT946278	hsa-miR-30e	CLIP-seq
MIRT946279	hsa-miR-3179	CLIP-seq
MIRT946280	hsa-miR-34c-3p	CLIP-seq
MIRT946281	hsa-miR-3646	CLIP-seq
MIRT946282	hsa-miR-3666	CLIP-seq
MIRT946283	hsa-miR-3667-3p	CLIP-seq
MIRT946284	hsa-miR-4272	CLIP-seq
MIRT946285	hsa-miR-4289	CLIP-seq
MIRT946286	hsa-miR-4295	CLIP-seq
MIRT946287	hsa-miR-4517	CLIP-seq
MIRT946288	hsa-miR-4536	CLIP-seq
MIRT946289	hsa-miR-454	CLIP-seq
MIRT946290	hsa-miR-4667-3p	CLIP-seq
MIRT946291	hsa-miR-4668-3p	CLIP-seq
MIRT946292	hsa-miR-4691-5p	CLIP-seq
MIRT946293	hsa-miR-4729	CLIP-seq
MIRT946294	hsa-miR-4789-3p	CLIP-seq
MIRT946295	hsa-miR-500a	CLIP-seq
MIRT946296	hsa-miR-664	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980184	hsa-miR-1206	CLIP-seq
MIRT1980185	hsa-miR-1265	CLIP-seq
MIRT1980186	hsa-miR-1273e	CLIP-seq
MIRT1980187	hsa-miR-1278	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT1980189	hsa-miR-148a	CLIP-seq
MIRT1980190	hsa-miR-148b	CLIP-seq
MIRT1980191	hsa-miR-152	CLIP-seq
MIRT1980192	hsa-miR-1914	CLIP-seq
MIRT1980193	hsa-miR-193a-3p	CLIP-seq
MIRT1980194	hsa-miR-193b	CLIP-seq
MIRT1980195	hsa-miR-2117	CLIP-seq
MIRT1980196	hsa-miR-217	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT1980198	hsa-miR-31	CLIP-seq
MIRT1980199	hsa-miR-3128	CLIP-seq
MIRT1980200	hsa-miR-3605-5p	CLIP-seq
MIRT1980201	hsa-miR-3616-5p	CLIP-seq
MIRT1980202	hsa-miR-3647-5p	CLIP-seq
MIRT1980203	hsa-miR-3650	CLIP-seq
MIRT1980204	hsa-miR-3668	CLIP-seq
MIRT1980205	hsa-miR-3919	CLIP-seq
MIRT1980206	hsa-miR-4418	CLIP-seq
MIRT1980207	hsa-miR-4455	CLIP-seq
MIRT1980208	hsa-miR-4520a-5p	CLIP-seq
MIRT1980209	hsa-miR-4520b-5p	CLIP-seq
MIRT1980210	hsa-miR-4635	CLIP-seq
MIRT1980211	hsa-miR-4677-3p	CLIP-seq
MIRT1980212	hsa-miR-4756-3p	CLIP-seq
MIRT1980213	hsa-miR-509-3-5p	CLIP-seq
MIRT1980214	hsa-miR-509-5p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980216	hsa-miR-518a-5p	CLIP-seq
MIRT1980217	hsa-miR-527	CLIP-seq
MIRT1980218	hsa-miR-548u	CLIP-seq
MIRT1980219	hsa-miR-573	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT1980221	hsa-miR-609	CLIP-seq
MIRT1980222	hsa-miR-636	CLIP-seq
MIRT1980223	hsa-miR-892b	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980184	hsa-miR-1206	CLIP-seq
MIRT2387135	hsa-miR-1238	CLIP-seq
MIRT1980189	hsa-miR-148a	CLIP-seq
MIRT1980190	hsa-miR-148b	CLIP-seq
MIRT1980191	hsa-miR-152	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT1980203	hsa-miR-3650	CLIP-seq
MIRT1980207	hsa-miR-4455	CLIP-seq
MIRT1980208	hsa-miR-4520a-5p	CLIP-seq
MIRT1980209	hsa-miR-4520b-5p	CLIP-seq
MIRT946292	hsa-miR-4691-5p	CLIP-seq
MIRT1980215	hsa-miR-511	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT1980221	hsa-miR-609	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT2519747	hsa-miR-1184	CLIP-seq
MIRT2519748	hsa-miR-1205	CLIP-seq
MIRT2519749	hsa-miR-1281	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT1980197	hsa-miR-298	CLIP-seq
MIRT2519750	hsa-miR-3158-5p	CLIP-seq
MIRT2519751	hsa-miR-3163	CLIP-seq
MIRT2519752	hsa-miR-3176	CLIP-seq
MIRT2519753	hsa-miR-3613-3p	CLIP-seq
MIRT2519754	hsa-miR-3662	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2519755	hsa-miR-3908	CLIP-seq
MIRT2519756	hsa-miR-3922-3p	CLIP-seq
MIRT2519757	hsa-miR-4457	CLIP-seq
MIRT2519758	hsa-miR-4529-5p	CLIP-seq
MIRT2519759	hsa-miR-4698	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2519760	hsa-miR-4719	CLIP-seq
MIRT2519761	hsa-miR-4731-3p	CLIP-seq
MIRT2519762	hsa-miR-4753-5p	CLIP-seq
MIRT2519763	hsa-miR-4757-5p	CLIP-seq
MIRT2519764	hsa-miR-4789-5p	CLIP-seq
MIRT2519765	hsa-miR-4801	CLIP-seq
MIRT2519766	hsa-miR-488	CLIP-seq
MIRT2519767	hsa-miR-513b	CLIP-seq
MIRT2519768	hsa-miR-521	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT2519769	hsa-miR-577	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT2519770	hsa-miR-590-3p	CLIP-seq
MIRT2519771	hsa-miR-600	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq
MIRT1980183	hsa-miR-101	CLIP-seq
MIRT1980188	hsa-miR-144	CLIP-seq
MIRT2519752	hsa-miR-3176	CLIP-seq
MIRT2519754	hsa-miR-3662	CLIP-seq
MIRT2448555	hsa-miR-369-3p	CLIP-seq
MIRT2448556	hsa-miR-374a	CLIP-seq
MIRT2448557	hsa-miR-374b	CLIP-seq
MIRT2519755	hsa-miR-3908	CLIP-seq
MIRT1980205	hsa-miR-3919	CLIP-seq
MIRT2519756	hsa-miR-3922-3p	CLIP-seq
MIRT2519759	hsa-miR-4698	CLIP-seq
MIRT2215312	hsa-miR-4717-3p	CLIP-seq
MIRT2519763	hsa-miR-4757-5p	CLIP-seq
MIRT2519766	hsa-miR-488	CLIP-seq
MIRT2519768	hsa-miR-521	CLIP-seq
MIRT2428401	hsa-miR-552	CLIP-seq
MIRT1980220	hsa-miR-582-5p	CLIP-seq
MIRT2519771	hsa-miR-600	CLIP-seq
MIRT2448558	hsa-miR-665	CLIP-seq
MIRT2428402	hsa-miR-764	CLIP-seq
MIRT946297	hsa-miR-889	CLIP-seq

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Transcription factor	Regulation	Reference
IRF1	Repression	15560761
IRF2	Repression	15560761

Show/Hide all (75)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	10428034
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IPI	11375975
GO:0005198	Function	Structural molecule activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11375975, 12482924, 17043677, 19632184, 19932097, 21911577, 22995871, 23414517, 26496610, 28514442, 31413325, 33961781, 35271311
GO:0005604	Component	Basement membrane	TAS	2461961
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11751855, 19932097
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0007010	Process	Cytoskeleton organization	IMP	19403692
GO:0007155	Process	Cell adhesion	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11375975
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008090	Process	Retrograde axonal transport	ISS
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	NAS	11375975
GO:0015629	Component	Actin cytoskeleton	IDA	10428034
GO:0015629	Component	Actin cytoskeleton	IDA	10428034
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	10428034
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030011	Process	Maintenance of cell polarity	IMP	19403692
GO:0030018	Component	Z disc	IDA	19932097
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	IBA
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030056	Component	Hemidesmosome	IEA
GO:0030056	Component	Hemidesmosome	TAS	8575775, 11375975
GO:0030424	Component	Axon	IDA	10428034
GO:0030424	Component	Axon	IEA
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031252	Component	Cell leading edge	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	14581450
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031673	Component	H zone	IEA
GO:0035371	Component	Microtubule plus-end	IDA	19632184
GO:0042060	Process	Wound healing	IBA
GO:0042803	Function	Protein homodimerization activity	IDA	19932097
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEP	11751855
GO:0045104	Process	Intermediate filament cytoskeleton organization	NAS	11375975
GO:0045111	Component	Intermediate filament cytoskeleton	IDA	10428034
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048870	Process	Cell motility	IMP	19403692
GO:0051010	Function	Microtubule plus-end binding	IDA	19632184
GO:0070161	Component	Anchoring junction	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
113810	1090	ENSG00000151914

Q03001

Protein name

Dystonin (230 kDa bullous pemphigoid antigen) (230/240 kDa bullous pemphigoid antigen) (Bullous pemphigoid antigen 1) (BPA) (Bullous pemphigoid antigen) (Dystonia musculorum protein) (Hemidesmosomal plaque protein)

Protein function

Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-conta

PDB

3GJO , 7OLG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	35 → 139	Calponin homology (CH) domain	Domain
PF00307	CH	151 → 256	Calponin homology (CH) domain	Domain
PF00435	Spectrin	699 → 803	Spectrin repeat	Domain
PF17902	SH3_10	876 → 942	SH3 domain	Domain
PF18373	Spectrin_like	977 → 1054	Spectrin like domain	Domain
PF00681	Plectin	1585 → 1625	Plectin repeat	Repeat
PF00681	Plectin	1774 → 1814	Plectin repeat	Repeat
PF00435	Spectrin	3923 → 4040	Spectrin repeat	Domain
PF00435	Spectrin	4060 → 4153	Spectrin repeat	Domain
PF00435	Spectrin	4513 → 4622	Spectrin repeat	Domain
PF00435	Spectrin	4625 → 4733	Spectrin repeat	Domain
PF00435	Spectrin	4847 → 4952	Spectrin repeat	Domain
PF00435	Spectrin	5281 → 5389	Spectrin repeat	Domain
PF00435	Spectrin	5392 → 5498	Spectrin repeat	Domain
PF00435	Spectrin	5502 → 5607	Spectrin repeat	Domain
PF00435	Spectrin	5828 → 5934	Spectrin repeat	Domain
PF00435	Spectrin	5937 → 6042	Spectrin repeat	Domain
PF00435	Spectrin	6045 → 6155	Spectrin repeat	Domain
PF00435	Spectrin	6170 → 6264	Spectrin repeat	Domain
PF00435	Spectrin	6267 → 6374	Spectrin repeat	Domain
PF00435	Spectrin	6377 → 6483	Spectrin repeat	Domain
PF00435	Spectrin	6486 → 6592	Spectrin repeat	Domain
PF00435	Spectrin	6595 → 6701	Spectrin repeat	Domain
PF00435	Spectrin	6704 → 6811	Spectrin repeat	Domain
PF00435	Spectrin	6816 → 6919	Spectrin repeat	Domain
PF00435	Spectrin	6922 → 7028	Spectrin repeat	Domain
PF13499	EF-hand_7	7199 → 7263	EF-hand domain pair	Domain
PF02187	GAS2	7278 → 7352	Growth-Arrest-Specific Protein 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes. {ECO:0000269|PubMed:11751855, ECO:0000269|

Sequence

MAGYLSPAAYLYVEEQEYLQAYEDVLERYKDERDKVQKKTFTKWINQHLMKVRKHVNDLY
EDLRDGHNLISLLEVLSGDTLPREKGRMRFHRLQNVQIALDYLKRRQVKLVNIRNDDITD
GNPKLTLGLIWTIILHFQISDIHVTGESEDMSAKERLLLWTQQATEGYAGIRCENFTTCW
RDGKLFNAIIHKYRPDLIDMNTVAVQSNLANLEHAFYVAEKIGVIRLLDPEDVDVSSPDE
KSVITYVSSLYDAFPKVPEGGEGIGANDVEVKWIEYQNMVNYLIQWIRHHVTTMSERTFP
NNPVELKALYNQYLQFKETEIPPKETEKSKIKRLYKLLEIWIEFGRIKLLQGYHPNDIEK
EWGKLIIAMLEREKALRPEVERLEMLQQIANRVQRDSVICEDKLILAGNALQSDSKRLES
GVQFQNEAEIAGYILECENLLRQHVIDVQILIDGKYYQADQLVQRVAKLRDEIMALRNEC
SSVYSKGRILTTEQTKLMISGITQSLNSGFAQTLHPSLTSGLTQSLTPSLTSSSMTSGLS
SGMTSRLTPSVTPAYTPGFPSGLVPNFSSGVEPNSLQTLKLMQIRKPLLKSSLLDQNLTE
EEINMKFVQDLLNWVDEMQVQLDRTEWGSDLPSVESHLENHKNVHRAIEEFESSLKEAKI
SEIQMTAPLKLTYAEKLHRLESQYAKLLNTSRNQERHLDTLHNFVSRATNELIWLNEKEE
EEVAYDWSERNTNIARKKDYHAELMRELDQKEENIKSVQEIAEQLLLENHPARLTIEAYR
AAMQTQWSWILQLCQCVEQHIKENTAYFEFFNDAKEATDYLRNLKDAIQRKYSCDRSSSI
HKLEDLVQESMEEKEELLQYKSTIANLMGKAKTIIQLKPRNSDCPLKTSIPIKAICDYRQ
IEITIYKDDECVLANNSHRAKWKVISPTGNEAMVPSVCFTVPPPNKEAVDLANRIEQQYQ
NVLTLWHESHINMKSVVSWHYLINEIDRIRASNVASIKTMLPGEHQQVLSNLQSRFEDFL
EDSQESQVFSGSDITQLEKEVNVCKQYYQELLKSAEREEQEESVYNLYISEVRNIRLRLE
NCEDRLIRQIRTPLERDDLHESVFRITEQEKLKKELERLKDDLGTITNKCEEFFSQAAAS
SSVPTLRSELNVVLQNMNQVYSMSSTYIDKLKTVNLVLKNTQAAEALVKLYETKLCEEEA
VIADKNNIENLISTLKQWRSEVDEKRQVFHALEDELQKAKAISDEMFKTYKERDLDFDWH
KEKADQLVERWQNVHVQIDNRLRDLEGIGKSLKYYRDTYHPLDDWIQQVETTQRKIQENQ
PENSKTLATQLNQQKMLVSEIEMKQSKMDECQKYAEQYSATVKDYELQTMTYRAMVDSQQ
KSPVKRRRMQSSADLIIQEFMDLRTRYTALVTLMTQYIKFAGDSLKRLEEEEKSLEEEKK
EHVEKAKELQKWVSNISKTLKDAEKAGKPPFSKQKISSEEISTKKEQLSEALQTIQLFLA
KHGDKMTDEERNELEKQVKTLQESYNLLFSESLKQLQESQTSGDVKVEEKLDKVIAGTID
QTTGEVLSVFQAVLRGLIDYDTGIRLLETQLMISGLISPELRKCFDLKDAKSHGLIDEQI
LCQLKELSKAKEIISAASPTTIPVLDALAQSMITESMAIKVLEILLSTGSLVIPATGEQL
TLQKAFQQNLVSSALFSKVLERQNMCKDLIDPCTSEKVSLIDMVQRSTLQENTGMWLLPV
RPQEGGRITLKCGRNISILRAAHEGLIDRETMFRLLSAQLLSGGLINSNSGQRMTVEEAV
REGVIDRDTASSILTYQVQTGGIIQSNPAKRLTVDEAVQCDLITSSSALLVLEAQRGYVG
LIWPHSGEIFPTSSSLQQELITNELAYKILNGRQKIAALYIPESSQVIGLDAAKQLGIID
NNTASILKNITLPDKMPDLGDLEACKNARRWLSFCKFQPSTVHDYRQEEDVFDGEEPVTT
QTSEETKKLFLSYLMINSYMDANTGQRLLLYDGDLDEAVGMLLEGCHAEFDGNTAIKECL
DVLSSSGVFLNNASGREKDECTATPSSFNKCHCGEPEHEETPENRKCAIDEEFNEMRNTV
INSEFSQSGKLASTISIDPKVNSSPSVCVPSLISYLTQTELADISMLRSDSENILTNYEN
QSRVETNERANECSHSKNIQNFPSDLIENPIMKSKMSKFCGVNETENEDNTNRDSPIFDY
SPRLSALLSHDKLMHSQGSFNDTHTPESNGNKCEAPALSFSDKTMLSGQRIGEKFQDQFL
GIAAINISLPGEQYGQKSLNMISSNPQVQYHNDKYISNTSGEDEKTHPGFQQMPEDKEDE
SEIEEYSCAVTPGGDTDNAIVSLTCATPLLDETISASDYETSLLNDQQNNTGTDTDSDDD
FYDTPLFEDDDHDSLLLDGDDRDCLHPEDYDTLQEENDETASPADVFYDVSKENENSMVP
QGAPVGSLSVKNKAHCLQDFLMDVEKDELDSGEKIHLNPVGSDKVNGQSLETGSERECTN
ILEGDESDSLTDYDIVGGKESFTASLKFDDSGSWRGRKEEYVTGQEFHSDTDHLDSMQSE
ESYGDYIYDSNDQDDDDDDGIDEEGGGIRDENGKPRCQNVAEDMDIQLCASILNENSDEN
ENINTMILLDKMHSCSSLEKQQRVNVVQLASPSENNLVTEKSNLPEYTTEIAGKSKENLL
NHEMVLKDVLPPIIKDTESEKTFGPASISHDNNNISSTSELGTDLANTKVKLIQGSELPE
LTDSVKGKDEYFKNMTPKVDSSLDHIICTEPDLIGKPAEESHLSLIASVTDKDPQGNGSD
LIKGRDGKSDILIEDETSIQKMYLGEGEVLVEGLVEEENRHLKLLPGKNTRDSFKLINSQ
FPFPQITNNEELNQKGSLKKATVTLKDEPNNLQIIVSKSPVQFENLEEIFDTSVSKEISD
DITSDITSWEGNTHFEESFTDGPEKELDLFTYLKHCAKNIKAKDVAKPNEDVPSHVLITA
PPMKEHLQLGVNNTKEKSTSTQKDSPLNDMIQSNDLCSKESISGGGTEISQFTPESIEAT
LSILSRKHVEDVGKNDFLQSERCANGLGNDNSSNTLNTDYSFLEINNKKERIEQQLPKEQ
ALSPRSQEKEVQIPELSQVFVEDVKDILKSRLKEGHMNPQEVEEPSACADTKILIQNLIK
RITTSQLVNEASTVPSDSQMSDSSGVSPMTNSSELKPESRDDPFCIGNLKSELLLNILKQ
DQHSQKITGVFELMRELTHMEYDLEKRGITSKVLPLQLENIFYKLLADGYSEKIEHVGDF
NQKACSTSEMMEEKPHILGDIKSKEGNYYSPNLETVKEIGLESSTVWASTLPRDEKLKDL
CNDFPSHLECTSGSKEMASGDSSTEQFSSELQQCLQHTEKMHEYLTLLQDMKPPLDNQES
LDNNLEALKNQLRQLETFELGLAPIAVILRKDMKLAEEFLKSLPSDFPRGHVEELSISHQ
SLKTAFSSLSNVSSERTKQIMLAIDSEMSKLAVSHEEFLHKLKSFSDWVSEKSKSVKDIE
IVNVQDSEYVKKRLEFLKNVLKDLGHTKMQLETTAFDVQFFISEYAQDLSPNQSKQLLRL
LNTTQKCFLDVQESVTTQVERLETQLHLEQDLDDQKIVAERQQEYKEKLQGICDLLTQTE
NRLIGHQEAFMIGDGTVELKKYQSKQEELQKDMQGSAQALAEVVKNTENFLKENGEKLSQ
EDKALIEQKLNEAKIKCEQLNLKAEQSKKELDKVVTTAIKEETEKVAAVKQLEESKTKIE
NLLDWLSNVDKDSERAGTKHKQVIEQNGTHFQEGDGKSAIGEEDEVNGNLLETDVDGQVG
TTQENLNQQYQKVKAQHEKIISQHQAVIIATQSAQVLLEKQGQYLSPEEKEKLQKNMKEL
KVHYETALAESEKKMKLTHSLQEELEKFDADYTEFEHWLQQSEQELENLEAGADDINGLM
TKLKRQKSFSEDVISHKGDLRYITISGNRVLEAAKSCSKRDGGKVDTSATHREVQRKLDH
ATDRFRSLYSKCNVLGNNLKDLVDKYQHYEDASCGLLAGLQACEATASKHLSEPIAVDPK
NLQRQLEETKALQGQISSQQVAVEKLKKTAEVLLDARGSLLPAKNDIQKTLDDIVGRYED
LSKSVNERNEKLQITLTRSLSVQDGLDEMLDWMGNVESSLKEQGQVPLNSTALQDIISKN
IMLEQDIAGRQSSINAMNEKVKKFMETTDPSTASSLQAKMKDLSARFSEASHKHKETLAK
MEELKTKVELFENLSEKLQTFLETKTQALTEVDVPGKDVTELSQYMQESTSEFLEHKKHL
EVLHSLLKEISSHGLPSDKALVLEKTNNLSKKFKEMEDTIKEKKEAVTSCQEQLDAFQVL
VKSLKSWIKETTKKVPIVQPSFGAEDLGKSLEDTKKLQEKWSLKTPEIQKVNNSGISLCN
LISAVTTPAKAIAAVKSGGAVLNGEGTATNTEEFWANKGLTSIKKDMTDISHGYEDLGLL
LKDKIAELNTKLSKLQKAQEESSAMMQWLQKMNKTATKWQQTPAPTDTEAVKTQVEQNKS
FEAELKQNVNKVQELKDKLTELLEENPDTPEAPRWKQMLTEIDSKWQELNQLTIDRQQKL
EESSNNLTQFQTVEAQLKQWLVEKELMVSVLGPLSIDPNMLNTQRQQVQILLQEFATRKP
QYEQLTAAGQGILSRPGEDPSLRGIVKEQLAAVTQKWDSLTGQLSDRCDWIDQAIVKSTQ
YQSLLRSLSDKLSDLDNKLSSSLAVSTHPDAMNQQLETAQKMKQEIQQEKKQIKVAQALC
EDLSALVKEEYLKAELSRQLEGILKSFKDVEQKAENHVQHLQSACASSHQFQQMSRDFQA
WLDTKKEEQNKSHPISAKLDVLESLIKDHKDFSKTLTAQSHMYEKTIAEGENLLLKTQGS
EKAALQLQLNTIKTNWDTFNKQVKERENKLKESLEKALKYKEQVETLWPWIDKCQNNLEE
IKFCLDPAEGENSIAKLKSLQKEMDQHFGMVELLNNTANSLLSVCEIDKEVVTDENKSLI
QKVDMVTEQLHSKKFCLENMTQKFKEFQEVSKESKRQLQCAKEQLDIHDSLGSQAYSNKY
LTMLQTQQKSLQALKHQVDLAKRLAQDLVVEASDSKGTSDVLLQVETIAQEHSTLSQQVD
EKCSFLETKLQGIGHFQNTIREMFSQFAEFDDELDSMAPVGRDAETLQKQKETIKAFLKK
LEALMASNDNANKTCKMMLATEETSPDLVGIKRDLEALSKQCNKLLDRAQAREEQVEGTI
KRLEEFYSKLKEFSILLQKAEEHEESQGPVGMETETINQQLNMFKVFQKEEIEPLQGKQQ
DVNWLGQGLIQSAAKSTSTQGLEHDLDDVNARWKTLNKKVAQRAAQLQEALLHCGRFQDA
LESLLSWMVDTEELVANQKPPSAEFKVVKAQIQEQKLLQRLLDDRKSTVEVIKREGEKIA
TTAEPADKVKILKQLSLLDSRWEALLNKAETRNRQLEGISVVAQQFHETLEPLNEWLTTI
EKRLVNCEPIGTQASKLEEQIAQHKALEDDIINHNKHLHQAVSIGQSLKVLSSREDKDMV
QSKLDFSQVWYIEIQEKSHSRSELLQQALCNAKIFGEDEVELMNWLNEVHDKLSKLSVQD
YSTEGLWKQQSELRVLQEDILLRKQNVDQALLNGLELLKQTTGDEVLIIQDKLEAIKARY
KDITKLSTDVAKTLEQALQLARRLHSTHEELCTWLDKVEVELLSYETQVLKGEEASQAQM
RPKELKKEAKNNKALLDSLNEVSSALLELVPWRAREGLEKMVAEDNERYRLVSDTITQKV
EEIDAAILRSQQFDQAADAELSWITETEKKLMSLGDIRLEQDQTSAQLQVQKTFTMEILR
HKDIIDDLVKSGHKIMTACSEEEKQSMKKKLDKVLKNYDTICQINSERYLQLERAQSLVN
QFWETYEELWPWLTETQSIISQLPAPALEYETLRQQQEEHRQLRELIAEHKPHIDKMNKT
GPQLLELSPGEGFSIQEKYVAADTLYSQIKEDVKKRAVALDEAISQSTQFHDKIDQILES
LERIVERLRQPPSISAEVEKIKEQISENKNVSVDMEKLQPLYETLKQRGEEMIARSGGTD
KDISAKAVQDKLDQMVFIWENIHTLVEEREAKLLDVMELAEKFWCDHMSLIVTIKDTQDF
IRDLEDPGIDPSVVKQQQEAAETIREEIDGLQEELDIVINLGSELIAACGEPDKPIVKKS
IDELNSAWDSLNKAWKDRIDKLEEAMQAAVQYQDGLQAVFDWVDIAGGKLASMSPIGTDL
ETVKQQIEELKQFKSEAYQQQIEMERLNHQAELLLKKVTEESDKHTVQDPLMELKLIWDS
LEERIINRQHKLEGALLALGQFQHALDELLAWLTHTEGLLSEQKPVGGDPKAIEIELAKH
HVLQNDVLAHQSTVEAVNKAGNDLIESSAGEEASNLQNKLEVLNQRWQNVLEKTEQRKQQ
LDGALRQAKGFHGEIEDLQQWLTDTERHLLASKPLGGLPETAKEQLNVHMEVCAAFEAKE
ETYKSLMQKGQQMLARCPKSAETNIDQDINNLKEKWESVETKLNERKTKLEEALNLAMEF
HNSLQDFINWLTQAEQTLNVASRPSLILDTVLFQIDEHKVFANEVNSHREQIIELDKTGT
HLKYFSQKQDVVLIKNLLISVQSRWEKVVQRLVERGRSLDDARKRAKQFHEAWSKLMEWL
EESEKSLDSELEIANDPDKIKTQLAQHKEFQKSLGAKHSVYDTTNRTGRSLKEKTSLADD
NLKLDDMLSELRDKWDTICGKSVERQNKLEEALLFSGQFTDALQALIDWLYRVEPQLAED
QPVHGDIDLVMNLIDNHKAFQKELGKRTSSVQALKRSARELIEGSRDDSSWVKVQMQELS
TRWETVCALSISKQTRLEAALRQAEEFHSVVHALLEWLAEAEQTLRFHGVLPDDEDALRT
LIDQHKEFMKKLEEKRAELNKATTMGDTVLAICHPDSITTIKHWITIIRARFEEVLAWAK
QHQQRLASALAGLIAKQELLEALLAWLQWAETTLTDKDKEVIPQEIEEVKALIAEHQTFM
EEMTRKQPDVDKVTKTYKRRAADPSSLQSHIPVLDKGRAGRKRFPASSLYPSGSQTQIET
KNPRVNLLVSKWQQVWLLALERRRKLNDALDRLEELREFANFDFDIWRKKYMRWMNHKKS
RVMDFFRRIDKDQDGKITRQEFIDGILSSKFPTSRLEMSAVADIFDRDGDGYIDYYEFVA
ALHPNKDAYKPITDADKIEDEVTRQVAKCKCAKRFQVEQIGDNKYRFFLGNQFGDSQQLR
LVRILRSTVMVRVGGGWMALDEFLVKNDPCRVHHHGSKMLRSESNSSITTTQPTIAKGRT
NMELREKFILADGASQGMAAFRPRGRRSRPSSRGASPNRSTSVSSQAAQAASPQVPATTT
PKGTPIQGSKLRLPGYLSGKGFHSGEDSGLITTAAARVRTQFADSKKTPSRPGSRAGSKA
GSRASSRRGSDASDFDISEIQSVCSDVETVPQTHRPTPRAGSRPSTAKPSKIPTPQRKSP
ASKLDKSSKR

Sequence length

7570

Interactions

View interactions

	Reactome
			Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly

6659

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Pathogenic	rs1563162043	RCV002468700
Congenital contracture	Pathogenic	rs1563162043	RCV002468700
Distal spinal muscular atrophy	Likely pathogenic	rs1454639285	RCV001027495
DST-related disorder	Pathogenic	rs761229102, rs2536281668	RCV004756228 RCV004544210
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	Likely pathogenic; Pathogenic	rs2152427474, rs2152440123, rs1198127456, rs761229102, rs758599939, rs2152759445, rs2152770295, rs2152729916, rs2152728832, rs2152751675, rs2152506082, rs2152556195, rs2152733577, rs528907932, rs2152422891 View all (106 more)	RCV001378330 RCV001379738 RCV001386390 RCV001380973 RCV001387514 RCV001385777 RCV001388170 RCV001824083 RCV001824084 RCV001891582 RCV001998586 RCV001872177 RCV001930386 RCV001960616 RCV001961435 RCV001950928 RCV001896560 RCV001976172 RCV002042581 RCV001994750 RCV002035254 RCV002000032 RCV001994464 RCV001941899 RCV001960697 RCV001927093 RCV001946623 RCV002026258 RCV001959053 RCV001883695 RCV001918214 RCV001975627 RCV001895286 RCV002021742 RCV003072800 RCV002613731 RCV002635477 RCV002695976 RCV002814985 RCV002833800 RCV002834877 RCV002880556 RCV002857166 RCV002871783 RCV002862584 RCV002908454 RCV002927366 RCV002923491 RCV002967701 RCV003024696 RCV003017467 RCV003024681 RCV003054541 RCV003033066 RCV003063832 RCV003048247 RCV005215956 RCV003782946 RCV003785264 RCV003789603 RCV003793427 RCV003787215 RCV003790381 RCV003792006 RCV003792413 RCV003807786 RCV003807967 RCV003808341 RCV003804394 RCV003791783 RCV003799735 RCV003805707 RCV003803823 RCV003804028 RCV003809147 RCV003794486 RCV003795131 RCV003808559 RCV003808585 RCV003804744 RCV003817990 RCV003815645 RCV003810624 RCV003812325 RCV003810162 RCV003810474 RCV005222941 RCV005222704 RCV001244880 RCV000651749 RCV000651719 RCV000705988 RCV000688797 RCV001855855 RCV000824024 RCV000820129 RCV000823530 RCV000794745 RCV000817762 RCV000822446 RCV000056254 RCV001069694 RCV001051217 RCV001068137 RCV001037996 RCV001221864 RCV001225454 RCV001247773 RCV001245997 RCV001244420 RCV001241388 RCV001248592 RCV001242502 RCV001247971 RCV001248338 RCV001248266 RCV001239927 RCV001246478 RCV001243947 RCV001246846 RCV001241867 RCV001243780
Global developmental delay	Pathogenic	rs1563162043	RCV002468700
Hereditary sensory and autonomic neuropathy type 6	Likely pathogenic; Pathogenic	rs779625484, rs2152427474, rs2152440123, rs1198127456, rs761229102, rs758599939, rs2152759445, rs2152770295, rs2127830414, rs2152382691, rs2152751675, rs2152506082, rs2152556195, rs2152733577, rs528907932 View all (115 more)	RCV002283661 RCV001378330 RCV001379738 RCV001386390 RCV001380973 RCV001387514 RCV001385777 RCV001388170 RCV001775446 RCV001775447 RCV001891582 RCV001998586 RCV001872177 RCV001930386 RCV001960616 RCV001961435 RCV001950928 RCV001896560 RCV001976172 RCV002042581 RCV001994750 RCV002035254 RCV002000032 RCV001994464 RCV001941899 RCV001960697 RCV001927093 RCV001946623 RCV002026258 RCV001959053 RCV001883695 RCV001918214 RCV001975627 RCV001895286 RCV002021742 RCV002251172 RCV002260874 RCV002260875 RCV003072800 RCV002613731 RCV002635477 RCV002695976 RCV002814985 RCV002833800 RCV002834877 RCV002880556 RCV002857166 RCV002871783 RCV002862584 RCV002908454 RCV002927366 RCV002923491 RCV002967701 RCV003024696 RCV003017467 RCV003024681 RCV003054541 RCV003033066 RCV003063832 RCV003048247 RCV005215956 RCV003326053 RCV003782946 RCV003785264 RCV003789603 RCV003793427 RCV003787215 RCV003790381 RCV003792006 RCV003792413 RCV003807786 RCV003807967 RCV003808341 RCV003804394 RCV003791783 RCV003799735 RCV003805707 RCV003803823 RCV003804028 RCV003809147 RCV003794486 RCV003795131 RCV003808559 RCV003808585 RCV003804744 RCV003817990 RCV003815645 RCV003810624 RCV003812325 RCV003810162 RCV003810474 RCV003990617 RCV005222941 RCV000024316 RCV001244880 RCV000651749 RCV000651719 RCV000754992 RCV000757892 RCV000705988 RCV000688797 RCV000754750 RCV001855855 RCV000824024 RCV000820129 RCV000823530 RCV000794745 RCV000817762 RCV000822446 RCV000803078 RCV001069694 RCV001051217 RCV001068137 RCV001037996 RCV001221864 RCV001225454 RCV001247773 RCV001245997 RCV001244420 RCV001241388 RCV001248592 RCV001242502 RCV001247971 RCV001248338 RCV001248266 RCV001239927 RCV001246478 RCV001243947 RCV001246846 RCV001241867 RCV001243780
Hypotonia	Pathogenic	rs1563162043	RCV002468700

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	association	rs1824238311	RCV001291268
Charcot-Marie-Tooth disease	Uncertain significance	rs150656535, rs373440035	RCV001027479 RCV001027494
Colon adenocarcinoma	Benign	rs540330544	RCV005868283
Esophageal atresia	Uncertain significance	rs1586153937	RCV000984643
Familial cancer of breast	Conflicting classifications of pathogenicity	rs773495985	RCV005867024
Moyamoya angiopathy	Uncertain significance	rs766294952	RCV004704473
Multiple sclerosis	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs750727762, rs35497571, rs34767818, rs75671065, rs201437391, rs758532940	RCV005052832 RCV005052808 RCV005052809 RCV005052810 RCV005052823 RCV005052824
Pyloric stenosis	Uncertain significance	rs1586153937	RCV000984643

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Pleomorphic	Associate	31861025
Arnold Chiari Malformation	Associate	33974636
CADASIL	Associate	20164846
Carcinoma Basal Cell	Associate	9424087
Carcinoma Renal Cell	Associate	34980126
Carcinoma Squamous Cell	Associate	32107283
Cerebral Small Vessel Diseases	Associate	20164846
Dystonia	Associate	11751855
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	20164846, 24025550
Epidermolysis Bullosa	Associate	20164846
Epidermolysis Bullosa Simplex Autosomal Recessive	Associate	20164846
Hereditary Sensory and Autonomic Neuropathies	Associate	28468842
Hypesthesia	Associate	20164846
Inflammation	Associate	7517983
Lymphatic Metastasis	Inhibit	20571966
Neoplasms	Associate	24675808, 31861025, 33503190
Neuroblastoma	Associate	34116676
Pemphigoid Bullous	Associate	1717441, 36430582, 7517983, 8710911, 8884529
Pemphigus	Associate	9284106
Shwachman Diamond Syndrome	Associate	31990679
Squamous Cell Carcinoma of Head and Neck	Associate	24675808
Triple Negative Breast Neoplasms	Associate	40179432
Wounds and Injuries	Associate	24025550

DST (dystonin)