MATN1 (matrilin 1)

Gene

• Entrez ID: 4146
• Gene name: Matrilin 1
• Gene symbol: MATN1
• Synonyms (NCBI Gene): CMP, CRTM
• Chromosome: 1
• Chromosome location: 1p35.2
• Summary: This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene ha

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT717291	hsa-miR-1252-3p	HITS-CLIP	19536157
MIRT717290	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT717289	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT608329	hsa-miR-8485	HITS-CLIP	23313552
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT608326	hsa-miR-4643	HITS-CLIP	23313552
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23313552
MIRT608325	hsa-miR-8064	HITS-CLIP	23313552
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT623298	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT623297	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT623296	hsa-miR-3941	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	24906430
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT608326	hsa-miR-4643	HITS-CLIP	24906430
MIRT608325	hsa-miR-8064	HITS-CLIP	24906430
MIRT623298	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT623297	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT623296	hsa-miR-3941	HITS-CLIP	27418678
MIRT608326	hsa-miR-4643	HITS-CLIP	27418678
MIRT608326	hsa-miR-4643	HITS-CLIP	27418678
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	27418678
MIRT608325	hsa-miR-8064	HITS-CLIP	27418678
MIRT608325	hsa-miR-8064	HITS-CLIP	27418678
MIRT608329	hsa-miR-8485	HITS-CLIP	27418678
MIRT608329	hsa-miR-8485	HITS-CLIP	27418678
MIRT717291	hsa-miR-1252-3p	HITS-CLIP	19536157
MIRT717290	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT717289	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT608329	hsa-miR-8485	HITS-CLIP	23313552
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT608326	hsa-miR-4643	HITS-CLIP	23313552
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23313552
MIRT608325	hsa-miR-8064	HITS-CLIP	23313552
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT623298	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT623297	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT623296	hsa-miR-3941	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT608329	hsa-miR-8485	HITS-CLIP	23824327
MIRT608327	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT608326	hsa-miR-4643	HITS-CLIP	23824327
MIRT612777	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT608325	hsa-miR-8064	HITS-CLIP	23824327
MIRT1133698	hsa-miR-138	CLIP-seq
MIRT1133699	hsa-miR-149	CLIP-seq
MIRT1133700	hsa-miR-3064-5p	CLIP-seq
MIRT1133701	hsa-miR-3156-5p	CLIP-seq
MIRT1133702	hsa-miR-320e	CLIP-seq
MIRT1133703	hsa-miR-3545-3p	CLIP-seq
MIRT1133704	hsa-miR-3652	CLIP-seq
MIRT1133705	hsa-miR-4430	CLIP-seq
MIRT1133706	hsa-miR-4447	CLIP-seq
MIRT1133707	hsa-miR-4456	CLIP-seq
MIRT1133708	hsa-miR-4472	CLIP-seq
MIRT1133709	hsa-miR-4505	CLIP-seq
MIRT1133710	hsa-miR-4733-5p	CLIP-seq
MIRT1133711	hsa-miR-4794	CLIP-seq
MIRT1133712	hsa-miR-488	CLIP-seq
MIRT1133713	hsa-miR-541	CLIP-seq
MIRT1133714	hsa-miR-654-5p	CLIP-seq
MIRT1133715	hsa-miR-892a	CLIP-seq
MIRT2038046	hsa-miR-1275	CLIP-seq
MIRT2038047	hsa-miR-1913	CLIP-seq
MIRT2038048	hsa-miR-1915	CLIP-seq
MIRT2038049	hsa-miR-1972	CLIP-seq
MIRT2038050	hsa-miR-2110	CLIP-seq
MIRT2038051	hsa-miR-3144-5p	CLIP-seq
MIRT2038052	hsa-miR-3147	CLIP-seq
MIRT2038053	hsa-miR-3150a-3p	CLIP-seq
MIRT2038054	hsa-miR-3180	CLIP-seq
MIRT2038055	hsa-miR-3180-3p	CLIP-seq
MIRT2038056	hsa-miR-3189-3p	CLIP-seq
MIRT2038057	hsa-miR-3191	CLIP-seq
MIRT2038058	hsa-miR-3196	CLIP-seq
MIRT2038059	hsa-miR-324-3p	CLIP-seq
MIRT2038060	hsa-miR-4253	CLIP-seq
MIRT2038061	hsa-miR-4258	CLIP-seq
MIRT2038062	hsa-miR-4267	CLIP-seq
MIRT2038063	hsa-miR-4425	CLIP-seq
MIRT2038064	hsa-miR-4488	CLIP-seq
MIRT2038065	hsa-miR-4652-5p	CLIP-seq
MIRT2038066	hsa-miR-4665-5p	CLIP-seq
MIRT2038067	hsa-miR-4697-5p	CLIP-seq
MIRT2038068	hsa-miR-4707-3p	CLIP-seq
MIRT2038069	hsa-miR-4726-3p	CLIP-seq
MIRT2038070	hsa-miR-4727-5p	CLIP-seq
MIRT2038071	hsa-miR-4728-5p	CLIP-seq
MIRT2038072	hsa-miR-4761-3p	CLIP-seq
MIRT2038073	hsa-miR-4781-3p	CLIP-seq
MIRT2268001	hsa-miR-1267	CLIP-seq
MIRT2038050	hsa-miR-2110	CLIP-seq
MIRT2038051	hsa-miR-3144-5p	CLIP-seq
MIRT2038053	hsa-miR-3150a-3p	CLIP-seq
MIRT2038056	hsa-miR-3189-3p	CLIP-seq
MIRT2038057	hsa-miR-3191	CLIP-seq
MIRT2268002	hsa-miR-329	CLIP-seq
MIRT2268003	hsa-miR-4279	CLIP-seq
MIRT2038065	hsa-miR-4652-5p	CLIP-seq
MIRT1133698	hsa-miR-138	CLIP-seq
MIRT1133699	hsa-miR-149	CLIP-seq
MIRT1133700	hsa-miR-3064-5p	CLIP-seq
MIRT1133704	hsa-miR-3652	CLIP-seq
MIRT2390651	hsa-miR-4281	CLIP-seq
MIRT1133705	hsa-miR-4430	CLIP-seq
MIRT1133707	hsa-miR-4456	CLIP-seq
MIRT1133709	hsa-miR-4505	CLIP-seq
MIRT1133711	hsa-miR-4794	CLIP-seq
MIRT1133713	hsa-miR-541	CLIP-seq
MIRT2390652	hsa-miR-642a	CLIP-seq
MIRT1133714	hsa-miR-654-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFIC	Repression	7730325

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0003429	Process	Growth plate cartilage chondrocyte morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	TAS	9083061
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15075323, 20729554
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0030198	Process	Extracellular matrix organization	NAS	10397755, 10660556
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	2246248
GO:0065003	Process	Protein-containing complex assembly	TAS	9083061
GO:0120216	Component	Matrilin complex	ISO

Other IDs

• MIM: 115437
• HGNC: 6907
• e!Ensembl: ENSG00000162510

Protein

• UniProt ID: P21941
• Protein name: Matrilin-1 (Cartilage matrix protein)
• Protein function: A major component of the extracellular matrix of non-articular cartilage (By similarity). Binds to type 2 collagens and forms long concatenated protein networks as part of the extracellular matrix (By similarity). Required for the network-like o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	41 → 215	von Willebrand factor type A domain	Domain
  PF14670	FXa_inhibition	227 → 262		Domain
  PF00092	VWA	275 → 446	von Willebrand factor type A domain	Domain
  PF10393	Matrilin_ccoil	451 → 495	Trimeric coiled-coil oligomerisation domain of matrilin	Coiled-coil

• Sequence:

  MRVLSGTSLMLCSLLLLLQALCSPGLAPQSRGHLCRTRPTDLVFVVDSSRSVRPVEFEKV
  KVFLSQVIESLDVGPNATRVGMVNYASTVKQEFSLRAHVSKAALLQAVRRIQPLSTGTMT
  GLAIQFAITKAFGDAEGGRSRSPDISKVVIVVTDGRPQDSVQDVSARARASGVELFAIGV
  GSVDKATLRQIASEPQDEHVDYVESYSVIEKLSRKFQEAFCVVSDLCATGDHDCEQVCIS
  SPGSYTCACHEGFTLNSDGKTCNVCSGGGGSSATDLVFLIDGSKSVRPENFELVKKFISQ
  IVDTLDVSDKLAQVGLVQYSSSVRQEFPLGRFHTKKDIKAAVRNMSYMEKGTMTGAALKY
  LIDNSFTVSSGARPGAQKVGIVFTDGRSQDYINDAAKKAKDLGFKMFAVGVGNAVEDELR
  EIASEPVAEHYFYTADFKTINQIGKKLQKKICVEEDPCACESLVKFQAKVEGLLQALTRK
  LEAVSKRLAILENTVV

• Sequence length: 496

Pathways

Reactome:

ECM proteoglycans

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPROSTHETIC OSTEOLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondrogenesis type 2	Achondrogenesis	BEFREE	15574381		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28451804, 7567994		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	19808299		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	18985072, 21308753, 21691901, 22193623, 22278929, 24469715		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	28451804		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	23873973		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	9163557		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12820722		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20946665	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28451804		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	20739701		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	8611500		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11389097, 16319516		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30299317		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12175111, 19103633, 28139355, 9336408		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31667976	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30299317		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	31280653		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23873973		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11535530, 16330448		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	30392161		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37714866	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12820722		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17913261		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35896673, 9336408	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	9336408	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	12175111		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	15574381		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	18985072	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	18985072		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	10356312, 19426133		★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	BEFREE	10356312, 19426133		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	15574381		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26239059	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27558661		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37714866	Associate	★☆☆☆☆ Found in Text Mining only