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DCN (decorin)

Gene

1634

Decorin

DCN

CSCD, DSPG2, PG40, PGII, PGS2, SLRR1B

12q21.33

This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature prot

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338741	A>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs80338742	G>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs397515545	C>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs587777258	T>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant

Show/Hide all(310)

miRTarBase ID	miRNA	Experiments	Reference
MIRT926407	hsa-miR-3647-3p	CLIP-seq
MIRT926408	hsa-miR-4766-5p	CLIP-seq
MIRT926409	hsa-miR-4282	CLIP-seq
MIRT926410	hsa-miR-4698	CLIP-seq
MIRT926411	hsa-miR-548c-3p	CLIP-seq
MIRT1547869	hsa-miR-1256	CLIP-seq
MIRT1547870	hsa-miR-1271	CLIP-seq
MIRT1547871	hsa-miR-182	CLIP-seq
MIRT1547872	hsa-miR-374c	CLIP-seq
MIRT1547873	hsa-miR-4255	CLIP-seq
MIRT1547874	hsa-miR-4450	CLIP-seq
MIRT1547875	hsa-miR-4642	CLIP-seq
MIRT1547876	hsa-miR-4797-5p	CLIP-seq
MIRT1547877	hsa-miR-655	CLIP-seq
MIRT1547878	hsa-miR-96	CLIP-seq
MIRT1974474	hsa-miR-4464	CLIP-seq
MIRT1974475	hsa-miR-4748	CLIP-seq
MIRT2428134	hsa-miR-105	CLIP-seq
MIRT2428135	hsa-miR-1202	CLIP-seq
MIRT2428136	hsa-miR-1207-5p	CLIP-seq
MIRT1547869	hsa-miR-1256	CLIP-seq
MIRT1547870	hsa-miR-1271	CLIP-seq
MIRT2428137	hsa-miR-1343	CLIP-seq
MIRT2428138	hsa-miR-145	CLIP-seq
MIRT2428139	hsa-miR-154	CLIP-seq
MIRT2428140	hsa-miR-181a	CLIP-seq
MIRT2428141	hsa-miR-181b	CLIP-seq
MIRT2428142	hsa-miR-181c	CLIP-seq
MIRT2428143	hsa-miR-181d	CLIP-seq
MIRT1547871	hsa-miR-182	CLIP-seq
MIRT2428144	hsa-miR-224	CLIP-seq
MIRT2428145	hsa-miR-2467-5p	CLIP-seq
MIRT2428146	hsa-miR-299-3p	CLIP-seq
MIRT2428147	hsa-miR-3074-5p	CLIP-seq
MIRT2428148	hsa-miR-3145-5p	CLIP-seq
MIRT2428149	hsa-miR-3163	CLIP-seq
MIRT2428150	hsa-miR-3180-5p	CLIP-seq
MIRT2428151	hsa-miR-3188	CLIP-seq
MIRT2428152	hsa-miR-340	CLIP-seq
MIRT2428153	hsa-miR-3591-5p	CLIP-seq
MIRT2428154	hsa-miR-3606	CLIP-seq
MIRT2428155	hsa-miR-3607-5p	CLIP-seq
MIRT926407	hsa-miR-3647-3p	CLIP-seq
MIRT2428156	hsa-miR-3671	CLIP-seq
MIRT2428157	hsa-miR-3690	CLIP-seq
MIRT2428158	hsa-miR-371-5p	CLIP-seq
MIRT2428159	hsa-miR-371b-5p	CLIP-seq
MIRT1547872	hsa-miR-374c	CLIP-seq
MIRT2428160	hsa-miR-3972	CLIP-seq
MIRT2428161	hsa-miR-3975	CLIP-seq
MIRT2428162	hsa-miR-421	CLIP-seq
MIRT2428163	hsa-miR-4254	CLIP-seq
MIRT1547873	hsa-miR-4255	CLIP-seq
MIRT2428164	hsa-miR-4262	CLIP-seq
MIRT926409	hsa-miR-4282	CLIP-seq
MIRT1547874	hsa-miR-4450	CLIP-seq
MIRT1974474	hsa-miR-4464	CLIP-seq
MIRT1547875	hsa-miR-4642	CLIP-seq
MIRT2428165	hsa-miR-4699-3p	CLIP-seq
MIRT2428166	hsa-miR-4709-5p	CLIP-seq
MIRT2428167	hsa-miR-4712-5p	CLIP-seq
MIRT2428168	hsa-miR-4736	CLIP-seq
MIRT2428169	hsa-miR-4742-5p	CLIP-seq
MIRT1974475	hsa-miR-4748	CLIP-seq
MIRT2428170	hsa-miR-4755-3p	CLIP-seq
MIRT2428171	hsa-miR-4763-3p	CLIP-seq
MIRT926408	hsa-miR-4766-5p	CLIP-seq
MIRT2428172	hsa-miR-4776-3p	CLIP-seq
MIRT1547876	hsa-miR-4797-5p	CLIP-seq
MIRT2428173	hsa-miR-485-5p	CLIP-seq
MIRT2428174	hsa-miR-508-5p	CLIP-seq
MIRT2428175	hsa-miR-513a-3p	CLIP-seq
MIRT926411	hsa-miR-548c-3p	CLIP-seq
MIRT2428176	hsa-miR-555	CLIP-seq
MIRT2428177	hsa-miR-556-5p	CLIP-seq
MIRT2428178	hsa-miR-590-3p	CLIP-seq
MIRT2428179	hsa-miR-607	CLIP-seq
MIRT2428180	hsa-miR-610	CLIP-seq
MIRT1547877	hsa-miR-655	CLIP-seq
MIRT2428181	hsa-miR-770-5p	CLIP-seq
MIRT2428182	hsa-miR-875-3p	CLIP-seq
MIRT2428183	hsa-miR-921	CLIP-seq
MIRT1547878	hsa-miR-96	CLIP-seq
MIRT2513724	hsa-let-7a	CLIP-seq
MIRT2513725	hsa-let-7b	CLIP-seq
MIRT2513726	hsa-let-7c	CLIP-seq
MIRT2513727	hsa-let-7d	CLIP-seq
MIRT2513728	hsa-let-7e	CLIP-seq
MIRT2513729	hsa-let-7f	CLIP-seq
MIRT2513730	hsa-let-7g	CLIP-seq
MIRT2513731	hsa-let-7i	CLIP-seq
MIRT2513732	hsa-miR-103b	CLIP-seq
MIRT2428134	hsa-miR-105	CLIP-seq
MIRT2428135	hsa-miR-1202	CLIP-seq
MIRT2428136	hsa-miR-1207-5p	CLIP-seq
MIRT2513733	hsa-miR-1251	CLIP-seq
MIRT1547869	hsa-miR-1256	CLIP-seq
MIRT1547870	hsa-miR-1271	CLIP-seq
MIRT2513734	hsa-miR-1321	CLIP-seq
MIRT2428137	hsa-miR-1343	CLIP-seq
MIRT2428139	hsa-miR-154	CLIP-seq
MIRT2428140	hsa-miR-181a	CLIP-seq
MIRT2428141	hsa-miR-181b	CLIP-seq
MIRT2428142	hsa-miR-181c	CLIP-seq
MIRT2428143	hsa-miR-181d	CLIP-seq
MIRT1547871	hsa-miR-182	CLIP-seq
MIRT2513735	hsa-miR-2113	CLIP-seq
MIRT2513736	hsa-miR-2117	CLIP-seq
MIRT2513737	hsa-miR-218	CLIP-seq
MIRT2428145	hsa-miR-2467-5p	CLIP-seq
MIRT2428147	hsa-miR-3074-5p	CLIP-seq
MIRT2513738	hsa-miR-3143	CLIP-seq
MIRT2428148	hsa-miR-3145-5p	CLIP-seq
MIRT2513739	hsa-miR-3158-3p	CLIP-seq
MIRT2513740	hsa-miR-3160-5p	CLIP-seq
MIRT2513741	hsa-miR-3162-5p	CLIP-seq
MIRT2428149	hsa-miR-3163	CLIP-seq
MIRT2428151	hsa-miR-3188	CLIP-seq
MIRT2513742	hsa-miR-325	CLIP-seq
MIRT2428152	hsa-miR-340	CLIP-seq
MIRT2428153	hsa-miR-3591-5p	CLIP-seq
MIRT2428154	hsa-miR-3606	CLIP-seq
MIRT2513743	hsa-miR-3616-3p	CLIP-seq
MIRT926407	hsa-miR-3647-3p	CLIP-seq
MIRT2513744	hsa-miR-3662	CLIP-seq
MIRT2428156	hsa-miR-3671	CLIP-seq
MIRT2513745	hsa-miR-3675-3p	CLIP-seq
MIRT2428157	hsa-miR-3690	CLIP-seq
MIRT2428158	hsa-miR-371-5p	CLIP-seq
MIRT2428159	hsa-miR-371b-5p	CLIP-seq
MIRT1547872	hsa-miR-374c	CLIP-seq
MIRT2513746	hsa-miR-376c	CLIP-seq
MIRT2513747	hsa-miR-377	CLIP-seq
MIRT2513748	hsa-miR-3927	CLIP-seq
MIRT2428160	hsa-miR-3972	CLIP-seq
MIRT2428161	hsa-miR-3975	CLIP-seq
MIRT2428162	hsa-miR-421	CLIP-seq
MIRT2428163	hsa-miR-4254	CLIP-seq
MIRT1547873	hsa-miR-4255	CLIP-seq
MIRT2428164	hsa-miR-4262	CLIP-seq
MIRT2513749	hsa-miR-4277	CLIP-seq
MIRT926409	hsa-miR-4282	CLIP-seq
MIRT2513750	hsa-miR-4305	CLIP-seq
MIRT2513751	hsa-miR-4432	CLIP-seq
MIRT1547874	hsa-miR-4450	CLIP-seq
MIRT2513752	hsa-miR-4458	CLIP-seq
MIRT2513753	hsa-miR-4500	CLIP-seq
MIRT1547875	hsa-miR-4642	CLIP-seq
MIRT2513754	hsa-miR-4650-3p	CLIP-seq
MIRT2513755	hsa-miR-4662a-3p	CLIP-seq
MIRT2513756	hsa-miR-4684-5p	CLIP-seq
MIRT2428165	hsa-miR-4699-3p	CLIP-seq
MIRT2428166	hsa-miR-4709-5p	CLIP-seq
MIRT2513757	hsa-miR-4721	CLIP-seq
MIRT2428168	hsa-miR-4736	CLIP-seq
MIRT2513758	hsa-miR-4739	CLIP-seq
MIRT2428169	hsa-miR-4742-5p	CLIP-seq
MIRT2428170	hsa-miR-4755-3p	CLIP-seq
MIRT2513759	hsa-miR-4756-5p	CLIP-seq
MIRT2428171	hsa-miR-4763-3p	CLIP-seq
MIRT926408	hsa-miR-4766-5p	CLIP-seq
MIRT2428172	hsa-miR-4776-3p	CLIP-seq
MIRT1547876	hsa-miR-4797-5p	CLIP-seq
MIRT2428173	hsa-miR-485-5p	CLIP-seq
MIRT2513760	hsa-miR-489	CLIP-seq
MIRT2513761	hsa-miR-494	CLIP-seq
MIRT2428174	hsa-miR-508-5p	CLIP-seq
MIRT2513762	hsa-miR-526b	CLIP-seq
MIRT926411	hsa-miR-548c-3p	CLIP-seq
MIRT2428177	hsa-miR-556-5p	CLIP-seq
MIRT2513763	hsa-miR-578	CLIP-seq
MIRT2513764	hsa-miR-580	CLIP-seq
MIRT2428178	hsa-miR-590-3p	CLIP-seq
MIRT2428179	hsa-miR-607	CLIP-seq
MIRT2428180	hsa-miR-610	CLIP-seq
MIRT2513765	hsa-miR-628-3p	CLIP-seq
MIRT2513766	hsa-miR-636	CLIP-seq
MIRT1547877	hsa-miR-655	CLIP-seq
MIRT2513767	hsa-miR-767-3p	CLIP-seq
MIRT2513768	hsa-miR-873	CLIP-seq
MIRT2428182	hsa-miR-875-3p	CLIP-seq
MIRT2513769	hsa-miR-888	CLIP-seq
MIRT2428183	hsa-miR-921	CLIP-seq
MIRT2513770	hsa-miR-935	CLIP-seq
MIRT1547878	hsa-miR-96	CLIP-seq
MIRT2513771	hsa-miR-98	CLIP-seq
MIRT2513724	hsa-let-7a	CLIP-seq
MIRT2513725	hsa-let-7b	CLIP-seq
MIRT2513726	hsa-let-7c	CLIP-seq
MIRT2513727	hsa-let-7d	CLIP-seq
MIRT2513728	hsa-let-7e	CLIP-seq
MIRT2513729	hsa-let-7f	CLIP-seq
MIRT2513730	hsa-let-7g	CLIP-seq
MIRT2513731	hsa-let-7i	CLIP-seq
MIRT2513732	hsa-miR-103b	CLIP-seq
MIRT2428134	hsa-miR-105	CLIP-seq
MIRT2428135	hsa-miR-1202	CLIP-seq
MIRT2428136	hsa-miR-1207-5p	CLIP-seq
MIRT2513733	hsa-miR-1251	CLIP-seq
MIRT1547869	hsa-miR-1256	CLIP-seq
MIRT1547870	hsa-miR-1271	CLIP-seq
MIRT2513734	hsa-miR-1321	CLIP-seq
MIRT2428137	hsa-miR-1343	CLIP-seq
MIRT2428138	hsa-miR-145	CLIP-seq
MIRT2428139	hsa-miR-154	CLIP-seq
MIRT2428140	hsa-miR-181a	CLIP-seq
MIRT2428141	hsa-miR-181b	CLIP-seq
MIRT2428142	hsa-miR-181c	CLIP-seq
MIRT2428143	hsa-miR-181d	CLIP-seq
MIRT1547871	hsa-miR-182	CLIP-seq
MIRT2513735	hsa-miR-2113	CLIP-seq
MIRT2513736	hsa-miR-2117	CLIP-seq
MIRT2513737	hsa-miR-218	CLIP-seq
MIRT2428144	hsa-miR-224	CLIP-seq
MIRT2428145	hsa-miR-2467-5p	CLIP-seq
MIRT2428146	hsa-miR-299-3p	CLIP-seq
MIRT2428147	hsa-miR-3074-5p	CLIP-seq
MIRT2679080	hsa-miR-3119	CLIP-seq
MIRT2513738	hsa-miR-3143	CLIP-seq
MIRT2428148	hsa-miR-3145-5p	CLIP-seq
MIRT2513739	hsa-miR-3158-3p	CLIP-seq
MIRT2513740	hsa-miR-3160-5p	CLIP-seq
MIRT2513741	hsa-miR-3162-5p	CLIP-seq
MIRT2428149	hsa-miR-3163	CLIP-seq
MIRT2428150	hsa-miR-3180-5p	CLIP-seq
MIRT2428151	hsa-miR-3188	CLIP-seq
MIRT2513742	hsa-miR-325	CLIP-seq
MIRT2428152	hsa-miR-340	CLIP-seq
MIRT2428153	hsa-miR-3591-5p	CLIP-seq
MIRT2428154	hsa-miR-3606	CLIP-seq
MIRT2428155	hsa-miR-3607-5p	CLIP-seq
MIRT2513743	hsa-miR-3616-3p	CLIP-seq
MIRT926407	hsa-miR-3647-3p	CLIP-seq
MIRT2513744	hsa-miR-3662	CLIP-seq
MIRT2428156	hsa-miR-3671	CLIP-seq
MIRT2513745	hsa-miR-3675-3p	CLIP-seq
MIRT2428157	hsa-miR-3690	CLIP-seq
MIRT2428158	hsa-miR-371-5p	CLIP-seq
MIRT2428159	hsa-miR-371b-5p	CLIP-seq
MIRT1547872	hsa-miR-374c	CLIP-seq
MIRT2513746	hsa-miR-376c	CLIP-seq
MIRT2513747	hsa-miR-377	CLIP-seq
MIRT2679081	hsa-miR-3908	CLIP-seq
MIRT2513748	hsa-miR-3927	CLIP-seq
MIRT2679082	hsa-miR-3942-5p	CLIP-seq
MIRT2428160	hsa-miR-3972	CLIP-seq
MIRT2428161	hsa-miR-3975	CLIP-seq
MIRT2428162	hsa-miR-421	CLIP-seq
MIRT2428163	hsa-miR-4254	CLIP-seq
MIRT1547873	hsa-miR-4255	CLIP-seq
MIRT2428164	hsa-miR-4262	CLIP-seq
MIRT2513749	hsa-miR-4277	CLIP-seq
MIRT926409	hsa-miR-4282	CLIP-seq
MIRT2679083	hsa-miR-4293	CLIP-seq
MIRT2513750	hsa-miR-4305	CLIP-seq
MIRT1547874	hsa-miR-4450	CLIP-seq
MIRT2679084	hsa-miR-4452	CLIP-seq
MIRT2513752	hsa-miR-4458	CLIP-seq
MIRT1974474	hsa-miR-4464	CLIP-seq
MIRT2513753	hsa-miR-4500	CLIP-seq
MIRT1547875	hsa-miR-4642	CLIP-seq
MIRT2513754	hsa-miR-4650-3p	CLIP-seq
MIRT2513755	hsa-miR-4662a-3p	CLIP-seq
MIRT2513756	hsa-miR-4684-5p	CLIP-seq
MIRT2428165	hsa-miR-4699-3p	CLIP-seq
MIRT2679085	hsa-miR-4703-5p	CLIP-seq
MIRT2428166	hsa-miR-4709-5p	CLIP-seq
MIRT2428167	hsa-miR-4712-5p	CLIP-seq
MIRT2513757	hsa-miR-4721	CLIP-seq
MIRT2428168	hsa-miR-4736	CLIP-seq
MIRT2513758	hsa-miR-4739	CLIP-seq
MIRT2679086	hsa-miR-4742-3p	CLIP-seq
MIRT2428169	hsa-miR-4742-5p	CLIP-seq
MIRT1974475	hsa-miR-4748	CLIP-seq
MIRT2428170	hsa-miR-4755-3p	CLIP-seq
MIRT2513759	hsa-miR-4756-5p	CLIP-seq
MIRT2428171	hsa-miR-4763-3p	CLIP-seq
MIRT2679087	hsa-miR-4766-3p	CLIP-seq
MIRT926408	hsa-miR-4766-5p	CLIP-seq
MIRT2428172	hsa-miR-4776-3p	CLIP-seq
MIRT1547876	hsa-miR-4797-5p	CLIP-seq
MIRT2428173	hsa-miR-485-5p	CLIP-seq
MIRT2513760	hsa-miR-489	CLIP-seq
MIRT2679088	hsa-miR-491-3p	CLIP-seq
MIRT2513761	hsa-miR-494	CLIP-seq
MIRT2428174	hsa-miR-508-5p	CLIP-seq
MIRT2513762	hsa-miR-526b	CLIP-seq
MIRT926411	hsa-miR-548c-3p	CLIP-seq
MIRT2679089	hsa-miR-548g	CLIP-seq
MIRT2428176	hsa-miR-555	CLIP-seq
MIRT2428177	hsa-miR-556-5p	CLIP-seq
MIRT2513763	hsa-miR-578	CLIP-seq
MIRT2513764	hsa-miR-580	CLIP-seq
MIRT2679090	hsa-miR-586	CLIP-seq
MIRT2428178	hsa-miR-590-3p	CLIP-seq
MIRT2679091	hsa-miR-596	CLIP-seq
MIRT2428179	hsa-miR-607	CLIP-seq
MIRT2428180	hsa-miR-610	CLIP-seq
MIRT2513765	hsa-miR-628-3p	CLIP-seq
MIRT2513766	hsa-miR-636	CLIP-seq
MIRT1547877	hsa-miR-655	CLIP-seq
MIRT2513767	hsa-miR-767-3p	CLIP-seq
MIRT2428181	hsa-miR-770-5p	CLIP-seq
MIRT2513768	hsa-miR-873	CLIP-seq
MIRT2428182	hsa-miR-875-3p	CLIP-seq
MIRT2513769	hsa-miR-888	CLIP-seq
MIRT2428183	hsa-miR-921	CLIP-seq
MIRT2513770	hsa-miR-935	CLIP-seq
MIRT1547878	hsa-miR-96	CLIP-seq
MIRT2513771	hsa-miR-98	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
JUN	Repression	8798756
NR1H4	Activation	18514055

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	1747115, 11598131, 20026052, 25331875, 25789606
GO:0005518	Function	Collagen binding	IEA
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005589	Component	Collagen type VI trimer	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005796	Component	Golgi lumen	TAS
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007568	Process	Aging	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	7961765
GO:0010508	Process	Positive regulation of autophagy	IDA	23798385
GO:0010596	Process	Negative regulation of endothelial cell migration	IDA	23798385
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IDA	23798385
GO:0016239	Process	Positive regulation of macroautophagy	IDA	23798385
GO:0016239	Process	Positive regulation of macroautophagy	IGI	23798385
GO:0016525	Process	Negative regulation of angiogenesis	IDA	23978385
GO:0019800	Process	Peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan	IEA
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	ISS
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030206	Process	Chondroitin sulfate biosynthetic process	TAS
GO:0030207	Process	Chondroitin sulfate catabolic process	TAS
GO:0030208	Process	Dermatan sulfate biosynthetic process	TAS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0042060	Process	Wound healing	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23798385
GO:0047485	Function	Protein N-terminus binding	IEA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IGI	23798385
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0090141	Process	Positive regulation of mitochondrial fission	IGI	23798385
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IDA	23798385

MIM	HGNC	e!Ensembl
125255	2705	ENSG00000011465

Protein

UniProt ID

P07585

Protein name

Decorin (Bone proteoglycan II) (PG-S2) (PG40)

Protein function

May affect the rate of fibrils formation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	53 → 80	Leucine rich repeat N-terminal domain	Family
PF13855	LRR_8	81 → 141	Leucine rich repeat	Repeat
PF13855	LRR_8	150 → 218	Leucine rich repeat	Repeat
PF13855	LRR_8	221 → 281	Leucine rich repeat	Repeat

Sequence

MKATIILLLLAQVSWAGPFQQRGLFDFMLEDEASGIGPEVPDDRDFEPSLGPVCPFRCQC
HLRVVQCSDLGLDKVPKDLPPDTTLLDLQNNKITEIKDGDFKNLKNLHALILVNNKISKV
SPGAFTPLVKLERLYLSKNQLKELPEKMPKTLQELRAHENEITKVRKVTFNGLNQMIVIE
LGTNPLKSSGIENGAFQGMKKLSYIRIADTNITSIPQGLPPSLTELHLDGNKISRVDAAS
LKGLNNLAKLGLSFNSISAVDNGSLANTPHLRELHLDNNKLTRVPGGLAEHKYIQVVYLH
NNNISVVGSSDFCPPGHNTKKASYSGVSLFSNPVQYWEIQPSTFRCVYVRSAIQLGNYK

Sequence length

359

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway Cytoskeleton in muscle cells Proteoglycans in cancer		Degradation of the extracellular matrix A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis Dermatan sulfate biosynthesis CS/DS degradation ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective CHST14 causes EDS, musculocontractural type Defective CHSY1 causes TPBS Defective B3GALT6 causes EDSP2 and SEMDJL1

Associated diseases

Show/Hide Causal Diseases (3)

Causal
Disease name	Disease term	dbSNP ID	References
Congenital stromal corneal dystrophy	Congenital stromal corneal dystrophy	rs80338741, rs80338742, rs397515545, rs587777258
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	16804899
Facioscapulohumeral muscular dystrophy	Muscular Dystrophy, Facioscapulohumeral	rs387907319, rs397514623, rs1057519614, rs1598416221, rs886041918, rs886042417, rs1057519644, rs1245372794, rs1555642277, rs1555644339, rs1555647265, rs886044369, rs1568350731, rs377471712, rs2075161300, rs2075566961, rs2075161499	12868502

Show/Hide Unknown Diseases (7)

Unknown
Disease name	Disease term	dbSNP ID	References
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507	16005714
Congenital corneal dystrophy	Congenital corneal dystrophy
Corneal dystrophy, congenital stromal	Corneal Dystrophy, Congenital Stromal		15671264, 16935612
Endometrial neoplasms	Endometrial Neoplasms		16804899
Liver carcinoma	Liver carcinoma		28284560
Myocardial ischemia	Myocardial Ischemia		16214533
Nephritis	Nephritis, Interstitial, Nephritis, Tubulointerstitial		16005714

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