DST (dystonin)

Gene

• Entrez ID: 667
• Gene name: Dystonin
• Gene symbol: DST
• Synonyms: BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, MACF2
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Repression	15560761
IRF2	Repression	15560761

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IPI	11375975
GO:0005198	Function	Structural molecule activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12482924, 17043677, 19632184, 19932097, 21911577, 22995871, 23414517, 26496610, 28514442, 31413325
GO:0005604	Component	Basement membrane	TAS	2461961
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005635	Component	Nuclear envelope	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11751855
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IBA	21873635
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005925	Component	Focal adhesion	IBA	21873635
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	21873635
GO:0008022	Function	Protein C-terminus binding	IPI	11375975
GO:0008090	Process	Retrograde axonal transport	ISS
GO:0009611	Process	Response to wounding	IDA	19403692
GO:0009925	Component	Basal plasma membrane	NAS	11375975
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0030011	Process	Maintenance of cell polarity	IMP	19403692
GO:0030018	Component	Z disc	IEA
GO:0030056	Component	Hemidesmosome	IBA	21873635
GO:0030056	Component	Hemidesmosome	TAS	8575775, 11375975
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0031252	Component	Cell leading edge	IDA	19403692
GO:0031410	Component	Cytoplasmic vesicle	IDA	14581450
GO:0031581	Process	Hemidesmosome assembly	IBA	21873635
GO:0031673	Component	H zone	IEA
GO:0035371	Component	Microtubule plus-end	IDA	19632184
GO:0042060	Process	Wound healing	IBA	21873635
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA	21873635
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEP	11751855
GO:0045104	Process	Intermediate filament cytoskeleton organization	NAS	11375975
GO:0048870	Process	Cell motility	IMP	19403692
GO:0051010	Function	Microtubule plus-end binding	IDA	19632184
GO:1904115	Component	Axon cytoplasm	IEA

Other IDs

• MIM: 113810
• HGNC: 1090
• e!Ensembl: ENSG00000151914

Protein

• UniProt ID: 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

• 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

Pathways

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Epidermolysis bullosa simplex	Epidermolysis Bullosa Simplex, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder), EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, Epidermolysis bullosa simplex due to BP230 deficiency	rs1565118389, rs121918354, rs1558193923, rs786205251, rs786205253, rs786205254, rs80338756, rs864309671, rs137853160, rs864309672, rs137853161, rs59629244, rs60399023, rs58330629, rs57121345, rs60725382, rs61371557, rs28928893, rs57358989, rs58380626, rs57364972, rs58762773, rs60171927, rs57599352, rs58058996, rs58072617, rs58163069, rs60586163, rs121912474, rs57499817, rs60715293, rs121912475, rs57348201, rs61126080, rs59115483, rs59190510, rs864309674, rs387906801, rs387906802, rs201045495, rs267607458, rs59243757, rs62642056, rs56922686, rs267607456, rs267607457, rs59840738, rs57142010, rs61297109, rs56974573, rs61536893, rs58393329, rs61664582, rs267607389, rs59442925, rs58357841, rs57278315, rs60338701, rs61263401, rs60470268, rs61027685, rs200779504, rs267607406, rs58560979, rs60090257, rs60231560, rs374419983, rs886037957, rs886037956, rs749309384, rs1057515580, rs1555156076, rs1553275192, rs1565593355, rs1571564381, rs1571557821	20164846, 25059916, 22113475, 25059916, 20164846
Hereditary sensory and autonomic neuropathy	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, Hereditary sensory and autonomic neuropathy type 6	rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332, rs137852736, rs137852738, rs137852734, rs137852735, rs398122819, rs587778791, rs587778798, rs483352920, rs672601370, rs864621998, rs863224970, rs879253939, rs879254294, rs1057519416, rs1057518748, rs746681765, rs1057519295, rs1064795772, rs1085307142, rs1554716504, rs775437084, rs1554093168, rs1184021143, rs1562435373, rs201871537, rs1478989689, rs1242078669, rs759006806, rs1559030991, rs757480516, rs759333796, rs1594986869, rs1580849841, rs1574706911, rs1574843584, rs1580870705, rs1197928094, rs1951910839, rs1601814238, rs1639043704, rs1799544883	25059916, 20164846, 22522446, 24381311
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Unknown
Disease name	Disease term	dbSNP ID	References
Alacrima	Alacrima
Congenital clubfoot	Congenital clubfoot
Sensory neuropathy	Sensory neuropathy