DCN (decorin)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1634
• Gene name: Decorin
• Gene symbol: DCN
• Synonyms (NCBI Gene): CSCD, DSPG2, PG40, PGII, PGS2, SLRR1B
• Chromosome: 12
• Chromosome location: 12q21.33
• Summary: 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

SNPs

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

miRNA 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

Transcription factor	Regulation	Reference
JUN	Repression	8798756
NR1H4	Activation	18514055

Gene ontology (GO) Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	1747115, 11598131, 20026052, 25331875, 25789606
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005796	Component	Golgi lumen	TAS
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: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: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:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23798385
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	23798385
GO:0051901	Process	Positive regulation of mitochondrial depolarization	IGI	23798385
GO:0090141	Process	Positive regulation of mitochondrial fission	IGI	23798385
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IDA	23798385

Other IDs

• MIM: 125255
• HGNC: 2705
• e!Ensembl: 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	221 → 281	Leucine rich repeat	Repeat
  PF13855	LRR_8	150 → 218	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in cerebrospinal fluid, fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:
• Sequence:

  MKATIILLLLAQVSWAGPFQQRGLFDFMLEDEASGIGPEVPDDRDFEPSLGPVCPFRCQC
  HLRVVQCSDLGLDKVPKDLPPDTTLLDLQNNKITEIKDGDFKNLKNLHALILVNNKISKV
  SPGAFTPLVKLERLYLSKNQLKELPEKMPKTLQELRAHENEITKVRKVTFNGLNQMIVIE
  LGTNPLKSSGIENGAFQGMKKLSYIRIADTNITSIPQGLPPSLTELHLDGNKISRVDAAS
  LKGLNNLAKLGLSFNSISAVDNGSLANTPHLRELHLDNNKLTRVPGGLAEHKYIQVVYLH
  NNNISVVGSSDFCPPGHNTKKASYSGVSLFSNPVQYWEIQPSTFRCVYVRSAIQLGNYK

• Sequence length: 359

Pathways

KEGG Pathway	Reactome Pathway
TGF-beta signaling pathway	Degradation of the extracellular matrix
Cytoskeleton in muscle cells	A tetrasaccharide linker sequence is required for GAG synthesis
Proteoglycans in cancer	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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital stromal corneal dystrophy	Pathogenic	rs587777258, rs80338741, rs80338742, rs397515545	RCV000114315 RCV000018366 RCV000020465 RCV000055876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	28284560	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, CONGENITAL STROMAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCN-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	16804899	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	16214533	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (303)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondrogenesis, type IB (disorder)	Achondrogenesis	BEFREE	11570921		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	1670752		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30604627		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	31524274		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	30320452		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10652025		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16414292		★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	12844226		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	31725165		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	12417272, 29158532, 9536978		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SPARCL1 2 shared diseasesCongenital stromal corneal dystrophy, Corneal dystrophy 2 shared evidence sourcesOrphanet (Congenital stromal corneal dystrophy), Disgenet (Corneal dystrophy) Related via 2 shared diseases including Congenital stromal corneal dystrophy, Corneal dystrophy — evidence mostly Orphanet. GDPD5 2 shared diseasesCorneal dystrophy, Endometrial neoplasms Related via 2 shared diseases including Corneal dystrophy, Endometrial neoplasms. BGN 12 shared pathwaysCytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 12 shared pathways including Cytoskeleton in muscle cells, A tetrasaccharide linker sequence is required for GAG synthesis. BCAN 12 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Degradation of the extracellular matrix, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 12 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type. NCAN 11 shared pathwaysA tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective B3GALT6 causes EDSP2 and SEMDJL1, Dermatan sulfate biosynthesis, Chondroitin sulfate biosynthesis, CS/DS degradation, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, ECM proteoglycans Related via 11 shared pathways including A tetrasaccharide linker sequence is required for GAG synthesis, Defective B4GALT7 causes EDS, progeroid type.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SPARCL1	2	["Congenital stromal corneal dystrophy","Corneal dystrophy"]	0	[]	2	["Orphanet (Congenital stromal corneal dystrophy)","Disgenet (Corneal dystrophy)"]
GDPD5	2	["Corneal dystrophy","Endometrial neoplasms"]	0	[]	0	[]
BGN	0	[]	12	["Cytoskeleton in muscle cells","A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
BCAN	0	[]	12	["A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Degradation of the extracellular matrix","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]
NCAN	0	[]	11	["A tetrasaccharide linker sequence is required for GAG synthesis","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective B3GALT6 causes EDSP2 and SEMDJL1","Dermatan sulfate biosynthesis","Chondroitin sulfate biosynthesis","CS\/DS degradation","Defective CHST3 causes SEDCJD","Defective CHST14 causes EDS, musculocontractural type","Defective CHSY1 causes TPBS","ECM proteoglycans"]	0	[]

Diseases Linked via Similar Genes

Endometriosis Linked via 1 of 5 related genesSPARCL1 Epilepsy Linked via 1 of 5 related genesSPARCL1 Esophageal adenocarcinoma Linked via 1 of 5 related genesSPARCL1 Gout Linked via 1 of 5 related genesSPARCL1 Colorectal cancer Linked via 1 of 5 related genesGDPD5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Endometriosis	1	["SPARCL1"]
Epilepsy	1	["SPARCL1"]
Esophageal adenocarcinoma	1	["SPARCL1"]
Gout	1	["SPARCL1"]
Colorectal cancer	1	["GDPD5"]