Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4147
Gene name	Matrilin 2
Gene symbol	MATN2
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8q22.1-q22.2
Summary	This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains

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miRTarBase ID	miRNA	Experiments
MIRT1133716	hsa-miR-105	CLIP-seq
MIRT1133717	hsa-miR-25	CLIP-seq
MIRT1133718	hsa-miR-32	CLIP-seq
MIRT1133719	hsa-miR-363	CLIP-seq
MIRT1133720	hsa-miR-367	CLIP-seq
MIRT1133721	hsa-miR-92a	CLIP-seq
MIRT1133722	hsa-miR-92b	CLIP-seq
MIRT1133716	hsa-miR-105	CLIP-seq
MIRT1133723	hsa-miR-124	CLIP-seq
MIRT1133724	hsa-miR-1255a	CLIP-seq
MIRT1133725	hsa-miR-1255b	CLIP-seq
MIRT1133726	hsa-miR-1827	CLIP-seq
MIRT1133717	hsa-miR-25	CLIP-seq
MIRT1133727	hsa-miR-298	CLIP-seq
MIRT1133718	hsa-miR-32	CLIP-seq
MIRT1133719	hsa-miR-363	CLIP-seq
MIRT1133720	hsa-miR-367	CLIP-seq
MIRT1133728	hsa-miR-3714	CLIP-seq
MIRT1133729	hsa-miR-382	CLIP-seq
MIRT1133730	hsa-miR-3910	CLIP-seq
MIRT1133731	hsa-miR-486-5p	CLIP-seq
MIRT1133732	hsa-miR-487b	CLIP-seq
MIRT1133733	hsa-miR-506	CLIP-seq
MIRT1133734	hsa-miR-576-3p	CLIP-seq
MIRT1133721	hsa-miR-92a	CLIP-seq
MIRT1133722	hsa-miR-92b	CLIP-seq
MIRT1133735	hsa-miR-940	CLIP-seq
MIRT2038074	hsa-miR-3130-3p	CLIP-seq
MIRT2038075	hsa-miR-3194-3p	CLIP-seq
MIRT2038076	hsa-miR-4260	CLIP-seq
MIRT2038077	hsa-miR-4283	CLIP-seq
MIRT2038078	hsa-miR-4489	CLIP-seq
MIRT2038079	hsa-miR-4793-3p	CLIP-seq
MIRT2038080	hsa-miR-5095	CLIP-seq
MIRT2038081	hsa-miR-760	CLIP-seq
MIRT1133723	hsa-miR-124	CLIP-seq
MIRT1133724	hsa-miR-1255a	CLIP-seq
MIRT1133725	hsa-miR-1255b	CLIP-seq
MIRT2268004	hsa-miR-144	CLIP-seq
MIRT1133726	hsa-miR-1827	CLIP-seq
MIRT1133727	hsa-miR-298	CLIP-seq
MIRT2268005	hsa-miR-33a	CLIP-seq
MIRT2268006	hsa-miR-33b	CLIP-seq
MIRT2268007	hsa-miR-3657	CLIP-seq
MIRT1133728	hsa-miR-3714	CLIP-seq
MIRT1133729	hsa-miR-382	CLIP-seq
MIRT1133730	hsa-miR-3910	CLIP-seq
MIRT2268008	hsa-miR-4669	CLIP-seq
MIRT1133733	hsa-miR-506	CLIP-seq
MIRT2268009	hsa-miR-550b	CLIP-seq
MIRT2268010	hsa-miR-592	CLIP-seq
MIRT2268011	hsa-miR-599	CLIP-seq
MIRT2268012	hsa-miR-656	CLIP-seq
MIRT1133735	hsa-miR-940	CLIP-seq
MIRT2390653	hsa-miR-3616-5p	CLIP-seq
MIRT2390654	hsa-miR-3647-5p	CLIP-seq
MIRT2390655	hsa-miR-3921	CLIP-seq
MIRT2390656	hsa-miR-4653-5p	CLIP-seq
MIRT2390657	hsa-miR-4795-5p	CLIP-seq
MIRT2390658	hsa-miR-573	CLIP-seq
MIRT2390659	hsa-miR-590-3p	CLIP-seq
MIRT2567694	hsa-miR-1200	CLIP-seq
MIRT2567695	hsa-miR-3920	CLIP-seq
MIRT2567696	hsa-miR-4291	CLIP-seq
MIRT2567697	hsa-miR-4310	CLIP-seq
MIRT2567698	hsa-miR-4502	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 25037231, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21078624, 21911467
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008347	Process	Glial cell migration	IEA
GO:0030198	Process	Extracellular matrix organization	NAS	10224097
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23979707, 25037231, 27068509, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031012	Component	Extracellular matrix	NAS	11124542
GO:0031104	Process	Dendrite regeneration	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0120216	Component	Matrilin complex	IEA
GO:0120216	Component	Matrilin complex	ISO

MIM	HGNC	e!Ensembl
602108	6908	ENSG00000132561

O00339

Protein name

Matrilin-2

Protein function

Involved in matrix assembly.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	57 → 231	von Willebrand factor type A domain	Domain
PF14670	FXa_inhibition	242 → 277		Domain
PF07645	EGF_CA	281 → 318	Calcium-binding EGF domain	Domain
PF14670	FXa_inhibition	324 → 359		Domain
PF14670	FXa_inhibition	365 → 400		Domain
PF12662	cEGF	423 → 446	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	485 → 523	Calcium-binding EGF domain	Domain
PF14670	FXa_inhibition	570 → 605		Domain
PF00092	VWA	655 → 829	von Willebrand factor type A domain	Domain
PF10393	Matrilin_ccoil	909 → 953	Trimeric coiled-coil oligomerisation domain of matrilin	Coiled-coil

Sequence

MEKMLAGCFLLILGQIVLLPAEARERSRGRSISRGRHARTHPQTALLESSCENKRADLVF
IIDSSRSVNTHDYAKVKEFIVDILQFLDIGPDVTRVGLLQYGSTVKNEFSLKTFKRKSEV
ERAVKRMRHLSTGTMTGLAIQYALNIAFSEAEGARPLRENVPRVIMIVTDGRPQDSVAEV
AAKARDTGILIFAIGVGQVDFNTLKSIGSEPHEDHVFLVANFSQIETLTSVFQKKLCTAH
MCSTLEHNCAHFCINIPGSYVCRCKQGYILNSDQTTCRIQDLCAMEDHNCEQLCVNVPGS
FVCQCYSGYALAEDGKRCVAVDYCASENHGCEHECVNADGSYLCQCHEGFALNPDKKTCT
KIDYCASSNHGCQHECVNTDDSYSCHCLKGFTLNPDKKTCRRINYCALNKPGCEHECVNM
EESYYCRCHRGYTLDPNGKTCSRVDHCAQQDHGCEQLCLNTEDSFVCQCSEGFLINEDLK
TCSRVDYCLLSDHGCEYSCVNMDRSFACQCPEGHVLRSDGKTCAKLDSCALGDHGCEHSC
VSSEDSFVCQCFEGYILREDGKTCRRKDVCQAIDHGCEHICVNSDDSYTCECLEGFRLAE
DGKRCRRKDVCKSTHHGCEHICVNNGNSYICKCSEGFVLAEDGRRCKKCTEGPIDLVFVI
DGSKSLGEENFEVVKQFVTGIIDSLTISPKAARVGLLQYSTQVHTEFTLRNFNSAKDMKK
AVAHMKYMGKGSMTGLALKHMFERSFTQGEGARPLSTRVPRAAIVFTDGRAQDDVSEWAS
KAKANGITMYAVGVGKAIEEELQEIASEPTNKHLFYAEDFSTMDEISEKLKKGICEALED
SDGRQDSPAGELPKTVQQPTESEPVTINIQDLLSCSNFAVQHRYLFEEDNLLRSTQKLSH
STKPSGSPLEEKHDQCKCENLIMFQNLANEEVRKLTQRLEEMTQRMEALENRLRYR

Sequence length

956

Interactions

View interactions

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)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30408806, 31493245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	28546218	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	28546218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	16401863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18386166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31591156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36691026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	GWASCAT_DG	30583798		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	18386166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	39180924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35618095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18386166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18386166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18386166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	18386166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24554201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	16401863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	16401863		★★★★★ ★☆☆☆☆ Found in Text Mining only

MATN2 (matrilin 2)