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Aliases for MATN4 Gene

Aliases for MATN4 Gene

  • Matrilin 4 2 3 5
  • 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. Diseases associated with MATN4 include Stromal Dystrophy and Multiple Epiphyseal Dysplasia. Among its related pathways are ECM proteoglycans and Articular Cartilage Extracellular Matrix Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MATN2.

UniProtKB/Swiss-Prot for MATN4 Gene

  • Major component of the extracellular matrix of cartilage.

Additional gene information for MATN4 Gene

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

Genomics for MATN4 Gene

GeneHancer (GH) Regulatory Elements for MATN4 Gene

Promoters and enhancers for MATN4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I045306 Promoter/Enhancer 1.2 EPDnew Ensembl 550.8 +1.8 1787 1.1 CTCF RB1 BACH1 RAD21 MTA3 E2F8 EGR1 ZNF143 RNF2 ZBTB2 MATN4 RBPJL SLPI
GH20I045305 Promoter 0.8 EPDnew 550.8 +3.0 2972 0.1 CTCF ZNF263 ZNF143 ZNF444 NFXL1 MATN4 RBPJL SLPI
GH20I045308 Promoter 0.7 EPDnew 550.8 +0.2 247 0.1 CTCF ZNF143 EZH2 MATN4 RBPJL SLPI
GH20I045309 Enhancer 0.4 ENCODE 550.8 +0.4 360 0.1 CTCF ZNF143 EZH2 RBPJL MATN4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MATN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MATN4 gene promoter:

Genomic Locations for MATN4 Gene

Genomic Locations for MATN4 Gene
15,122 bases
Minus strand

Genomic View for MATN4 Gene

Genes around MATN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MATN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A6NH94
    • A6NKN5
    • Q5QPU2
    • Q5QPU3
    • Q5QPU4
    • Q8N2M5
    • Q8N2M7
    • Q9H1F8
    • Q9H1F9

    Protein attributes for MATN4 Gene

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

    Alternative splice isoforms for MATN4 Gene


neXtProt entry for MATN4 Gene

Post-translational modifications for MATN4 Gene

  • Glycosylation at isoforms=2, 469, posLast=251251, and isoforms=2, 3, 4305

Antibody Products

No data available for DME Specific Peptides for MATN4 Gene

Domains & Families for MATN4 Gene

Gene Families for MATN4 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MATN4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MATN4 Gene

Gene Ontology (GO) - Molecular Function for MATN4 Gene

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

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MATN4 Gene

Localization for MATN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATN4 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MATN4 gene
Compartment Confidence
extracellular 5
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MATN4 Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for MATN4 Gene

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

No data available for SIGNOR curated interactions for MATN4 Gene

Drugs & Compounds for MATN4 Gene

No Compound Related Data Available

Transcripts for MATN4 Gene

Unigene Clusters for MATN4 Gene

Matrilin 4:
Representative Sequences:

Clone Products

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

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

Relevant External Links for MATN4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MATN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MATN4 Gene

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

This gene is overexpressed in Pancreas (x14.9), Skin - Sun Exposed (Lower leg) (x9.0), and Skin - Not Sun Exposed (Suprapubic) (x8.7).

Protein differential expression in normal tissues from HIPED for MATN4 Gene

This gene is overexpressed in Urine (48.3) and Lung (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MATN4 Gene

Protein tissue co-expression partners for MATN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of MATN4 Gene:


SOURCE GeneReport for Unigene cluster for MATN4 Gene:


mRNA Expression by UniProt/SwissProt for MATN4 Gene:

Tissue specificity: Embryonic kidney, lung and placenta.
genes like me logo Genes that share expression patterns with MATN4: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MATN4 Gene

Orthologs for MATN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MATN4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MATN4 33 34
  • 99.43 (n)
(Canis familiaris)
Mammalia MATN4 33 34
  • 90.25 (n)
(Bos Taurus)
Mammalia MATN4 33 34
  • 89.24 (n)
(Mus musculus)
Mammalia Matn4 33 16 34
  • 86.89 (n)
(Rattus norvegicus)
Mammalia Matn4 33
  • 86.48 (n)
(Monodelphis domestica)
Mammalia MATN4 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia MATN4 34
  • 57 (a)
(Gallus gallus)
Aves MATN4 33 34
  • 72.98 (n)
(Anolis carolinensis)
Reptilia MATN4 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492840 33
  • 61.1 (n)
(Danio rerio)
Actinopterygii matn4 34
  • 39 (a)
(Caenorhabditis elegans)
Secernentea mup-4 34
  • 8 (a)
Species where no ortholog for MATN4 was found in the sources mined by GeneCards:
  • 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

Gene Tree for MATN4 (if available)
Gene Tree for MATN4 (if available)

Paralogs for MATN4 Gene

Paralogs for MATN4 Gene

(6) 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 Variation AA Info Type
rs730882210 likely-pathogenic, Diabetes insipidus, Global developmental delay, Holoprosencephaly, Lumbosacral myelomeningocele, Microcephaly, Proptosis, Seizures 45,304,356(-) C/G coding_sequence_variant, missense_variant
rs1000376271 -- 45,296,587(-) C/T intron_variant
rs1000751678 -- 45,307,612(-) T/A intron_variant
rs1001038825 -- 45,294,281(-) T/A intron_variant
rs1001325171 -- 45,301,550(-) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958
nsv1056815 CNV loss 25217958
nsv1057759 CNV gain 25217958

Variation tolerance for MATN4 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.89; 97.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MATN4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MATN4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MATN4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
stromal dystrophy
multiple epiphyseal dysplasia
  • polyepiphyseal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search MATN4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MATN4

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 letters 1998) 2 3 4 22 58
  2. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PMID: 15075323) Mann HH … Wagener R (The Journal of biological chemistry 2004) 3 4 22 58
  3. Proteolytic processing causes extensive heterogeneity of tissue matrilin forms. (PMID: 19531486) Ehlen HW … Wagener R (The Journal of biological chemistry 2009) 3 22 58
  4. Comparative gene expression profile analysis between native human odontoblasts and pulp tissue. (PMID: 18005044) Pääkkönen V … Tjäderhane L (International endodontic journal 2008) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for MATN4 Gene

Sources for MATN4 Gene

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