MATN4 - matrilin 4 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8785

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
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

MATN4 Protein Structure

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)

  • 0
  • 100
  • 200
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  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08173 MATN4 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others MATN4 NCBI