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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. 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

Regulatory Elements for MATN4 Gene

Enhancers for MATN4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H045353 1.3 Ensembl ENCODE dbSUPER 11 -46.4 -46383 2 FOXA2 JUN MAX BATF FOSL1 GATA3 RBAK SCRT2 HNF4G FOS DBNDD2 NCOA5 TP53TG5 PIGT SYS1 RBPJL MATN4 SDC4
GH20H045328 0.4 dbSUPER 11.4 -20.3 -20287 0 HNF4A RBPJL MATN4 SYS1 SYS1-DBNDD2 PIGT ENSG00000237464 TRV-CAC14-1 ENSG00000275894
GH20H045311 1.1 Ensembl ENCODE 0.7 -3.5 -3498 1 CTCF ZNF777 RB1 ZNF2 RAD21 TEAD3 ZNF121 SMC3 ZNF143 EZH2 PIGT RNU6ATAC38P SLPI MATN4 PIR62059
GH20H045308 0.4 ENCODE 0.7 +0.4 361 0 CTCF EZH2 RBPJL MATN4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MATN4 on UCSC Golden Path with GeneCards custom track

Genomic Location for MATN4 Gene

Chromosome:
20
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

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:
    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

Post-translational modifications for MATN4 Gene

  • Glycosylation at Asn69, posLast=251251, and posLast=305305
  • Modification sites at PhosphoSitePlus

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

  • Taconic Biosciences Mouse Models for MATN4

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MATN4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Secreted.

Subcellular locations from

COMPARTMENTS
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MATN4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

MATN4

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 expression patterns with MATN4: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MATN4 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia MATN4 33 34
  • 90.25 (n)
cow
(Bos Taurus)
Mammalia MATN4 33 34
  • 89.24 (n)
mouse
(Mus musculus)
Mammalia Matn4 33 16 34
  • 86.89 (n)
rat
(Rattus norvegicus)
Mammalia Matn4 33
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia MATN4 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATN4 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MATN4 33 34
  • 72.98 (n)
lizard
(Anolis carolinensis)
Reptilia MATN4 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492840 33
  • 61.1 (n)
zebrafish
(Danio rerio)
Actinopterygii matn4 34
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mup-4 34
  • 8 (a)
OneToMany
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

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

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 Sequence Context AA Info Type
rs730882210 Likely pathogenic 45,304,356(-) GGTGG(C/G)GGTGC reference, missense
rs1000376271 -- 45,296,587(+) CAGTG(C/T)CTCTC intron-variant
rs1000751678 -- 45,307,612(+) TCCCC(A/T)CATCC intron-variant
rs1001038825 -- 45,294,281(+) GTGTG(A/T)GTGTG intron-variant
rs1001325171 -- 45,301,550(+) CAACC(C/G)CAAAA 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)

Relevant External Links for MATN4 Gene

Human Gene Mutation Database (HGMD)
MATN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MATN4

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

Relevant External Links for MATN4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. Proteolytic processing causes extensive heterogeneity of tissue matrilin forms. (PMID: 19531486) Ehlen HW … Wagener R (The Journal of biological chemistry 2009) 3 22 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for MATN4 Gene

Sources for MATN4 Gene

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