MATN4 - matrilin 4 Gene

Homo sapiens

Gene ID: 8785 | Gene type: protein coding

About 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.

Summary

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 Products(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

MATN4 Protein Structure

VWA

FXa_inhibition

VWA

Matrilin_ccoil

0
100
200
300
400
500
622 a.a.

Protein Preferred Names

Protein Names

matrilin-4

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08173	MATN4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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