1. Gene
  2. MATN4 - matrilin 4 Gene

MATN4 - matrilin 4 Gene

中文名称:基质素 4

种属: Homo sapiens

基因 ID: 8785 | 基因类型: protein coding

关于 MATN4

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,293,450-45,308,684 (from NCBI)

This gene has 6 transcripts (splice variants), 209 orthologues and 12 paralogues. Biased expression in pancreas (RPKM 6.7), skin (RPKM 0.9) and 2 other tissues.

功能概要

该基因编码包含 von Willebrand 因子 A 结构域的蛋白质家族的成员。该家族的蛋白质被认为参与了各种组织细胞外基质中丝状网络的形成。该家族成员被认为在颗粒状和格状 I 型角膜营养不良的角膜基质重组和再生中发挥作用。它还可能参与牙本质-牙髓复合体的伤口愈合。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 5 月]

This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

MATN4 基因产物(5)

mRNA Protein Name
NM_001393530.1 NP_001380459.1 matrilin-4 isoform 1 precursor
NM_001393531.1 NP_001380460.1 matrilin-4 isoform 4 precursor
NM_003833.5 NP_003824.2 matrilin-4 isoform 1 precursor
NM_030590.4 NP_085080.1 matrilin-4 isoform 2 precursor
NM_030592.4 NP_085095.1 matrilin-4 isoform 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

MATN4 蛋白结构

VWA

VWA: von Willebrand factor type A domain (34 - 203)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (260 - 295)

VWA

VWA: von Willebrand factor type A domain (386 - 554)

Matrilin_ccoil

Matrilin_ccoil: Trimeric coiled-coil oligomerisation domain of matrilin (580 - 618)

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  • 622 a.a.
蛋白主名 其他名称

matrilin-4

关联疾病

疾病名称 别名
Holoprosencephaly 1

Arhinencephaly

HPE1

Cyclopia

Holoprosencephaly, Familial Alobar

Hpe, Familial

Hpec

Demyer Sequence

Holoprosencephaly-1

Exophthalmos

Proptosis

Diabetes Insipidus
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Fibrosarcomatous Osteosarcoma

Fibroblastic Osteosarcoma

Fibrosarcomatous Osteogenic Sarcoma

Epiphyseal Dysplasia, Multiple, 6

Multiple Epiphyseal Dysplasia 6

EDM6

Dysplasia, Epiphyseal, Multiple, Type 6

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Chondroblastic Osteosarcoma

Chondrosarcomatous Osteogenic Sarcoma

Syngnathia

Cleft Palate-Lateral Synechia Syndrome

Cpls Syndrome

Cleft Palate Lateral Synechia Syndrome

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus MATN4 VGNC VGNC:31266
Felis catus MATN4 VGNC VGNC:68197
Mus musculus MATN4 MGD MGI:1328314
Rattus norvegicus MATN4 RGD RGD:1309732
Canis familiaris MATN4 VGNC VGNC:43042
Macaca mulatta MATN4 VGNC VGNC:95359