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... See more...

Aliases for MATN4 Gene

Aliases for MATN4 Gene

  • Matrilin 4 2 3 5
  • Matrilin-4 3 4

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 Scleredema Adultorum and Achondrogenesis, Type Ia. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MATN2.

UniProtKB/Swiss-Prot Summary for MATN4 Gene

Additional gene information for MATN4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J045306 Promoter/Enhancer 1.1 EPDnew Ensembl 500.7 +1.9 1871 0.6 CTCF NRF1 GABPA ZBTB7A SMC3 HDAC2 PCBP1 SRSF1 PTBP1 TFDP1 MATN4 RBPJL piR-50444-279
GH20J045309 Promoter/Enhancer 0.9 EPDnew Ensembl ENCODE 500.7 +0.2 165 0.8 CTCF RAD21 ZNF143 HNRNPL EZH2 MATN4 RBPJL SLPI
GH20J045032 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +265.0 264965 22.4 ZBTB40 CTCF USF1 SP1 JUND EP300 REST AFF1 CUX1 CTBP1 KCNS1 WFDC5 PABPC1L MATN4 RBPJL STK4 WFDC12 YWHAB RF00782 piR-43105-383
GH20J045353 Enhancer 0.9 ENCODE dbSUPER 11 -46.4 -46382 2 RBAK JUND FOS FOXA2 ZNF585B SP2 FOSL2 CEBPB JUN FOSL1 DBNDD2 TP53TG5 PIGT SYS1 MATN4 RBPJL SDC4
GH20J045283 Enhancer 0.7 Ensembl 11.1 +24.9 24878 0.8 FOXK2 NONO FOXA1 SP1 CTBP1 RAD51 ZNF282 ZNF316 FOXA2 MAFF piR-42694-099 SLPI MATN4 LOC105372630
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MATN4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MATN4

Top Transcription factor binding sites by QIAGEN in the MATN4 gene promoter:
  • AREB6
  • ATF6
  • c-Myc
  • GATA-6
  • HTF
  • Ik-2
  • LCR-F1
  • Olf-1
  • Pax-2
  • Pax-2a

Genomic Locations for MATN4 Gene

Genomic Locations for MATN4 Gene
chr20:45,293,445-45,308,566
(GRCh38/hg38)
Size:
15,122 bases
Orientation:
Minus strand
chr20:43,922,085-43,937,169
(GRCh37/hg19)
Size:
15,085 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 Asn251, Asn69, and Asn305
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MATN4_HUMAN (1493)

No data available for DME Specific Peptides for MATN4 Gene

Domains & Families for MATN4 Gene

Gene Families for MATN4 Gene

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

Protein Domains for MATN4 Gene

Suggested Antigen Peptide Sequences for MATN4 Gene

GenScript: Design optimal peptide antigens:
  • Matrilin 4 (A2RRP8_HUMAN)
  • Matrilin 4 (A5D8U1_HUMAN)
  • Matrilin-4 (MATN4_HUMAN)
genes like me logo Genes that share domains with MATN4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MATN4 Gene

Function for MATN4 Gene

Molecular function for MATN4 Gene

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

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

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

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
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for MATN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0031012 extracellular matrix IBA 21873635
GO:0062023 collagen-containing extracellular matrix IBA 21873635
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

Gene Ontology (GO) - Biological Process for MATN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003429 growth plate cartilage chondrocyte morphogenesis IBA 21873635
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

mRNA/cDNA for MATN4 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for MATN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MATN4 31 30
  • 90.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MATN4 31 30
  • 89.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Matn4 17 31 30
  • 86.89 (n)
rat
(Rattus norvegicus)
Mammalia Matn4 30
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia MATN4 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATN4 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MATN4 31 30
  • 72.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATN4 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492840 30
  • 61.1 (n)
zebrafish
(Danio rerio)
Actinopterygii matn4 31
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mup-4 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MATN4: view image

Paralogs for MATN4 Gene

(6) SIMAP similar genes for MATN4 Gene using alignment to 4 proteins:

  • MATN4_HUMAN
  • A2RRP8_HUMAN
  • A5D8U1_HUMAN
  • A6NNA4_HUMAN
genes like me logo Genes that share paralogs with MATN4: view

Variants for MATN4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MATN4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs138228405 Benign: Diabetes mellitus type 2 45,307,662(-) C/G INTRON_VARIANT
rs730882210 Likely Pathogenic: Microcephaly; Proptosis; Diabetes insipidus; Seizures; Global developmental delay; Holoprosencephaly sequence; Lumbosacral myelomeningocele 45,304,356(-) C/G MISSENSE_VARIANT
rs961418965 Benign: Diabetes mellitus type 2 45,303,525(-) G/A INTRON_VARIANT
rs2072788 - p.Arg164Ser
rs2743307 - p.Leu13Phe

Additional dbSNP identifiers (rs#s) for MATN4 Gene

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)
MATN4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MATN4

SNP Genotyping and Copy Number Assay Products

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

Disorders for MATN4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MATN4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
scleredema adultorum
  • buschke's scleredema
achondrogenesis, type ia
  • acg1a
epiphyseal dysplasia, multiple, 5
  • edm5
fibrosarcomatous osteosarcoma
  • fibroblastic osteosarcoma
mucinoses
- 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 23 54
  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 23 54
  3. Proteolytic processing causes extensive heterogeneity of tissue matrilin forms. (PMID: 19531486) Ehlen HW … Wagener R (The Journal of biological chemistry 2009) 3 23 54
  4. Comparative gene expression profile analysis between native human odontoblasts and pulp tissue. (PMID: 18005044) Pääkkönen V … Tjäderhane L (International endodontic journal 2008) 3 23 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MATN4 Gene

Sources for MATN4 Gene