MATN3 - matrilin 3 Gene

Also Known as HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4148

About MATN3

Cytogenetic location: 2p24.1 Genomic coordinates (GRCh38): 2:19,992,052-20,012,668 (from NCBI)

This gene has 3 transcripts (splice variants), 247 orthologues, 12 paralogues and is associated with 6 phenotypes. Biased expression in lung (RPKM 8.3), placenta (RPKM 4.2) and 9 other tissues.

Summary

This gene encodes a member of 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 two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

MATN3 Products (1)

mRNA	Protein	Name
NM_002381.5	NP_002372.1	matrilin-3 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	15075323	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MATN3 Protein Structure

VWA

FXa_inhibition

Matrilin_ccoil

0
100
200
300
400
486 a.a.

Protein Preferred Names	Protein Names
matrilin-3

MATN3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	MATN3	O15232	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
Intra	MATN3	O15232	PDIA4	Homo sapiens	P13667	Anti Tag CoIP	23956175
Intra	MATN3	O15232	PDIA4	Homo sapiens	P13667	Crosslink	16287128
Intra	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Y2H Array	32296183
Intra	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Y2H Prey Pooling	32296183
Intra	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Validated Y2H	32296183
Intra	MATN3	O15232	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
Intra	MATN3	O15232	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
Intra	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
Intra	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	MATN3	O15232	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Epiphyseal Dysplasia, Multiple, 5	EDM5 Multiple Epiphyseal Dysplasia 5 Bhmed Multiple Epiphyseal Dysplasia Type 5 Multiple Epiphyseal Dysplasia, Matn3-Related Microepiphyseal Dysplasia, Bilateral Hereditary Bilateral Hereditary Microepiphyseal Dysplasia Multiple Epiphyseal Dysplasia Matn3-Related Epiphyseal Dysplasia Multiple 5 Multiple Epiphyseal Dysplasia, Matn3 Related Bilateral Hereditary Micro-Epiphyseal Dysplasia Med5 Polyepiphyseal Dysplasia Type 5 Dysplasia, Epiphyseal, Multiple, Type 5
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type SEMDBCD Semd, Matn3-Related Spondyloepimetaphyseal Dysplasia Matrilin-3 Related Spondyloepimetaphyseal Dysplasia Matrilin-3 Type Semd, Matrilin-3 Type Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Semd Matn3-Related Matrilin-3 Related Semd Spondyloepimetaphyseal Dysplasia Bowed-Legs Type Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type Spondylometaepiphyseal Dysplasia Matrilin-3 Type Spondyloepimetaphyseal Disorder
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Spondyloepimetaphyseal Dysplasia	Dysplasia, Spondyloepimetaphyseal
Osteoarthritis	Osteoarthrosis Degenerative Joint Disease Hypertrophic Arthritis Arthropathy Degenerative Polyarthritis Degenerative Arthritis Osteoarthrosis And Allied Disorder Arthritis, Degenerative Oa Osteoarthritis Deformans Osteoarthrosis Deformans Kashin-Beck Disease
Osteochondritis Dissecans	Osteochondritis Ocd Konig Disease
Epiphyseal Dysplasia, Multiple, 1	EDM1 Multiple Epiphyseal Dysplasia 1 Multiple Epiphyseal Dysplasia Type 1 Med1 Multiple Epiphyseal Dysplasia Comp-Related Polyepiphyseal Dysplasia Type 1 Multiple Epiphyseal Dysplasia, Comp-Related Epiphyseal Dysplasia Multiple 1 Epiphyseal Dysplasia, Multiple 1 Dysplasia, Epiphyseal, Multiple, Type 1
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Epiphyseal Dysplasia, Multiple, 6	Multiple Epiphyseal Dysplasia 6 EDM6 Dysplasia, Epiphyseal, Multiple, Type 6
Epiphyseal Dysplasia, Multiple, 4	EDM4 Multiple Epiphyseal Dysplasia 4 Multiple Epiphyseal Dysplasia With Clubfoot Multiple Epiphyseal Dysplasia Type 4 Multiple Epiphyseal Dysplasia, Autosomal Recessive Multiple Epiphyseal Dysplasia With Bilayered Patellae Med4 Polyepiphyseal Dysplasia Type 4 Rmed Autosomal Recessive Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Bilateral Patellae Epiphyseal Dysplasia Multiple 4 Multiple Epiphyseal Dysplasia With Double-Layered Patella Dysplasia, Epiphyseal, Multiple, Type 4
Achondrogenesis, Type Ii	Achondrogenesis Type Ii ACG2 Achondrogenesis, Langer-Saldino Type Achondrogenesis Type 2 Chondrogenesis Imperfecta Achondrogenesis, Type Ib, Formerly Achondrogenesis, Type Ii Or Hypochondrogenesis Achondrogenesis 2 Acg-Ii Achondrogenesis-Hypochondrogenesis Type Ii Achondrogenesis Langer-Saldino Type Achondrogenesis-Hypochondrogenesis, Type Ii Hypochondrogenesis
Myasthenic Syndrome, Congenital, 16	Congenital Myasthenic Syndrome 16 CMS16 Myasthenic Syndrome, Congenital, Acetazolamide-Responsive Congenital Myasthenic Syndrome Acetazolamide-Responsive Congenital Myasthenic Syndrome Due To Mutation In Scn4a Congenital Myasthenic Syndrome Scn4a-Related
Epiphyseal Dysplasia, Multiple, 2	EDM2 Multiple Epiphyseal Dysplasia 2 Dysplasia, Epiphyseal, Multiple, Type 2
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Li-Fraumeni Syndrome 2	LFS2 Li-Fraumeni Syndrome, Type 2 Li-Fraumeni Syndrome
Acute Tympanitis	Acute Myringitis
Achondrogenesis	Achondrogenesis Syndrome
Myringitis Bullosa Hemorrhagica	Bullous Myringitis
Griscelli Syndrome, Type 3	Griscelli Syndrome Type 3 GS3 Griscelli-Prunieras Syndrome Type 3 Hypomelanosis With No Immunologic Or Neurologic Manifestations Griscelli Syndrome 3
Lissencephaly 4	LIS4 Lissencephaly 4 With Microcephaly Microlissencephaly Lissencephaly, Type 4
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Achondrogenesis, Type Ib	ACG1B Achondrogenesis Type Ib Achondrogenesis Type 1b Achondrogenesis Ib Achondrogenesis Fraccaro Type Achondrogenesis, Fraccaro Type Achondrogenesis, Parenti-Fraccaro Type Achondrogenesis 1b Acg-Ib Fraccaro Achondrogenesis
Hypotrichosis 8	HYPT8 Lah3 Hypotrichosis, Localized, Autosomal Recessive 3 Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis Hypotrichosis Localized Autosomal Recessive 3 Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis ARWH1 Hypotrichosis, Type 8
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Marshall Syndrome	MRSHS Deafness, Myopia, Cataract, Saddle Nose-Marshall Type Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis Pfapa Syndrome Pfapa Marshall Syndrome With Periodic Fever Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Bone Development Disease
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08172	MATN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21642	Matn3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28160	Matn3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	MATN3	RGD	RGD:1305085
Bos taurus	MATN3	VGNC	VGNC:59347
Macaca mulatta	MATN3	VGNC	VGNC:74666
Mus musculus	MATN3	MGD	MGI:1328350
Canis familiaris	MATN3	VGNC	VGNC:43041
Others	MATN3	NCBI