MATN3 - matrilin 3 Gene

中文名称：基质蛋白 3

种属: Homo sapiens

同用名: HOA; OS2; EDM5; DIPOA; OADIP; SEMDBCD

基因 ID: 4148 | 基因类型: protein coding

关于 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.

功能概要

该基因编码包含 von Willebrand 因子 A 域的蛋白质家族成员。该蛋白质家族被认为与各种组织的细胞外基质中丝状网络的形成有关。该蛋白质包含两个 von Willebrand 因子 A 结构域；它存在于软骨细胞外基质中，在软骨和骨骼的发育和稳态中发挥作用。该基因的突变导致多发性骨骺发育不良。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	15075323	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MATN3 蛋白结构

VWA

FXa_inhibition

Matrilin_ccoil

0
100
200
300
400
486 a.a.

蛋白主名

其他名称

matrilin-3

MATN3 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MATN3	O15232	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
种属内	MATN3	O15232	PDIA4	Homo sapiens	P13667	Anti Tag CoIP	23956175
种属内	MATN3	O15232	PDIA4	Homo sapiens	P13667	Crosslink	16287128
种属内	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Y2H Array	32296183
种属内	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Y2H Prey Pooling	32296183
种属内	MATN3	O15232	TCF4	Homo sapiens	P15884-3	Validated Y2H	32296183
种属内	MATN3	O15232	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
种属内	MATN3	O15232	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
种属内	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Validated Y2H	32296183
种属内	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
种属内	MATN3	O15232	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
种属内	MATN3	O15232	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08172	MATN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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