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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4147
Gene name Gene Name - the full gene name approved by the HGNC.	Matrilin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MATN2
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.1-q22.2
Summary Summary of gene provided in NCBI Entrez Gene.	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:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 25037231, 27068509, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21078624, 21911467
GO:0008150	Process	Biological_process	ND
GO:0031012	Component	Extracellular matrix	NAS	11124542
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23979707, 25037231, 27068509, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194

MIM	HGNC	e!Ensembl
602108	6908	ENSG00000132561

Protein

UniProt ID

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

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Erectile Dysfunction	Erectile Dysfunction		GWAS
Eosinophilia	Eosinophilia		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (13)

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

MATN2 (matrilin 2)