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Aliases for MATN4 Gene

Aliases for MATN4 Gene

  • Matrilin 4 2 3
  • Matrilin-4 3

External Ids for MATN4 Gene

Previous GeneCards Identifiers for MATN4 Gene

  • GC20M043650
  • GC20M044560
  • GC20M044607
  • GC20M043355
  • GC20M043922
  • GC20M040663

Summaries for MATN4 Gene

Entrez Gene Summary for MATN4 Gene

  • 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]

GeneCards Summary for MATN4 Gene

MATN4 (Matrilin 4) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. An important paralog of this gene is MATN1.

UniProtKB/Swiss-Prot for MATN4 Gene

  • Major component of the extracellular matrix of cartilage

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MATN4 Gene

Genomics for MATN4 Gene

Regulatory Elements for MATN4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MATN4 Gene

Start:
45,293,445 bp from pter
End:
45,308,566 bp from pter
Size:
15,122 bases
Orientation:
Minus strand

Genomic View for MATN4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MATN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MATN4 Gene

Proteins for MATN4 Gene

  • Protein details for MATN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95460-MATN4_HUMAN
    Recommended name:
    Matrilin-4
    Protein Accession:
    O95460
    Secondary Accessions:
    • A6NH94
    • A6NKN5
    • Q5QPU2
    • Q5QPU3
    • Q5QPU4
    • Q8N2M5
    • Q8N2M7
    • Q9H1F8
    • Q9H1F9

    Protein attributes for MATN4 Gene

    Size:
    622 amino acids
    Molecular mass:
    68487 Da
    Quaternary structure:
    • Interacts with COMP.
    SequenceCaution:
    • Sequence=BAC11081.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MATN4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MATN4 Gene

Proteomics data for MATN4 Gene at MOPED

Post-translational modifications for MATN4 Gene

  • Glycosylation at Asn69, Asn251, and Asn305
  • Modification sites at PhosphoSitePlus

Other Protein References for MATN4 Gene

No data available for DME Specific Peptides for MATN4 Gene

Domains for MATN4 Gene

Suggested Antigen Peptide Sequences for MATN4 Gene

Graphical View of Domain Structure for InterPro Entry

O95460

UniProtKB/Swiss-Prot:

MATN4_HUMAN :
  • O95460
Domain:
  • Contains 4 EGF-like domains.
  • Contains 2 VWFA domains.
genes like me logo Genes that share domains with MATN4: view

No data available for Gene Families for MATN4 Gene

Function for MATN4 Gene

Molecular function for MATN4 Gene

GENATLAS Biochemistry: matrilin 4,cartilage matrix protein
UniProtKB/Swiss-Prot Function: Major component of the extracellular matrix of cartilage

Gene Ontology (GO) - Molecular Function for MATN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 15075323
genes like me logo Genes that share ontologies with MATN4: view

Phenotypes for MATN4 Gene

GenomeRNAi human phenotypes for MATN4:
genes like me logo Genes that share phenotypes with MATN4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MATN4 Gene

Localization for MATN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATN4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MATN4 Gene COMPARTMENTS Subcellular localization image for MATN4 gene
Compartment Confidence
extracellular 5
cytosol 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MATN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with MATN4: view

Pathways for MATN4 Gene

genes like me logo Genes that share pathways with MATN4: view

Pathways by source for MATN4 Gene

2 Reactome pathways for MATN4 Gene
1 R&D Systems pathway for MATN4 Gene

Interacting Proteins for MATN4 Gene

Selected Interacting proteins: O95460-MATN4_HUMAN for MATN4 Gene via I2D

Gene Ontology (GO) - Biological Process for MATN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
GO:0048678 response to axon injury IEA --
genes like me logo Genes that share ontologies with MATN4: view

Transcripts for MATN4 Gene

Unigene Clusters for MATN4 Gene

Matrilin 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MATN4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MATN4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MATN4 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: -

Relevant External Links for MATN4 Gene

GeneLoc Exon Structure for
MATN4
ECgene alternative splicing isoforms for
MATN4

Expression for MATN4 Gene

mRNA expression in normal human tissues for MATN4 Gene

mRNA differential expression in normal tissues according to GTEx for MATN4 Gene

This gene is overexpressed in Pancreas (14.9), Skin - Sun Exposed (Lower leg) (9.0), and Skin - Not Sun Exposed (Suprapubic) (8.7).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MATN4 Gene

SOURCE GeneReport for Unigene cluster for MATN4 Gene Hs.278489

mRNA Expression by UniProt/SwissProt for MATN4 Gene

O95460-MATN4_HUMAN
Tissue specificity: Embryonic kidney, lung and placenta
genes like me logo Genes that share expressions with MATN4: view

In Situ Assay Products

Orthologs for MATN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MATN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MATN4 35
  • 99.43 (n)
  • 99.14 (a)
MATN4 36
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MATN4 35
  • 89.24 (n)
  • 92.06 (a)
MATN4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MATN4 35
  • 90.25 (n)
  • 92.94 (a)
MATN4 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Matn4 35
  • 86.89 (n)
  • 90.83 (a)
Matn4 16
Matn4 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MATN4 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATN4 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Matn4 35
  • 86.48 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves MATN4 35
  • 72.98 (n)
  • 71.66 (a)
MATN4 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATN4 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492840 35
  • 61.1 (n)
  • 63.88 (a)
zebrafish
(Danio rerio)
Actinopterygii matn4 36
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mup-4 36
  • 8 (a)
OneToMany
Species with no ortholog for MATN4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MATN4 Gene

ENSEMBL:
Gene Tree for MATN4 (if available)
TreeFam:
Gene Tree for MATN4 (if available)

Paralogs for MATN4 Gene

Paralogs for MATN4 Gene

Selected SIMAP similar genes for MATN4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MATN4: view

Variants for MATN4 Gene

Sequence variations from dbSNP and Humsavar for MATN4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs2072788 - 45,304,381(-) GCGCC(A/C)GCGGC missense, reference
rs2072789 -- 45,300,833(-) ACATT(C/T)GGAGT intron-variant
rs2076023 -- 45,301,019(-) TGTCT(C/T)TCCTT intron-variant
rs2227274 -- 45,297,896(-) CGGGG(A/C)TCCTC intron-variant
rs2227275 -- 45,297,933(-) TCAGA(A/G)GCAGC missense, reference

Structural Variations from Database of Genomic Variants (DGV) for MATN4 Gene

Variant ID Type Subtype PubMed ID
nsv912891 CNV Loss 21882294

Relevant External Links for MATN4 Gene

HapMap Linkage Disequilibrium report
MATN4
Human Gene Mutation Database (HGMD)
MATN4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MATN4 Gene

Disorders for MATN4 Gene

No disorders were found for MATN4 Gene.

No data available for UniProtKB/Swiss-Prot for MATN4 Gene

Publications for MATN4 Gene

  1. Genomic organisation, alternative splicing and primary structure of human matrilin-4. (PMID: 9827539) Wagener R. … Paulsson M. (FEBS Lett. 1998) 2 3 4 23
  2. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PMID: 15075323) Mann H.H. … Wagener R. (J. Biol. Chem. 2004) 3 4 23
  3. Comparative gene expression profile analysis between native human odontoblasts and pulp tissue. (PMID: 18005044) PAoAokkAPnen V. … TjAoderhane L. (Int Endod J 2008) 3 23
  4. Proteolytic processing causes extensive heterogeneity of tissue matrilin forms. (PMID: 19531486) Ehlen H.W. … Wagener R. (J. Biol. Chem. 2009) 3 23
  5. Isolation and regional mapping of cDNAs expressed during early human development. (PMID: 9027493) Jay P. … Berta P. (Genomics 1997) 2 3

Products for MATN4 Gene

Sources for MATN4 Gene

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