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

Show/Hide all (66)

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

Show/Hide all (21)

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 (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Aortic Diseases	Stimulate	28546218	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	18386166	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	36691026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Band Shaped	Associate	33633437	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	37047248	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	18386166	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Noncirrhotic Portal Hypertension	Associate	18386166	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Associate	39180924	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Associate	35618095	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy type 1	Associate	22876117	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Associate	18386166	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plaque Amyloid	Associate	22876117	★★★★★ ★☆☆☆☆ Found in Text Mining only
Post Acute COVID 19 Syndrome	Associate	37047248	★★★★★ ★☆☆☆☆ Found in Text Mining only

MATN2 (matrilin 2)