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Aliases for MATN3 Gene

Aliases for MATN3 Gene

  • Matrilin 3 2 3 5
  • Matrilin-3 3
  • DIPOA 3
  • OADIP 3
  • EDM5 3
  • HOA 3
  • OS2 3

External Ids for MATN3 Gene

Previous GeneCards Identifiers for MATN3 Gene

  • GC02M020083
  • GC02M020259
  • GC02M020176
  • GC02M020113
  • GC02M019949
  • GC02M020191

Summaries for MATN3 Gene

Entrez Gene Summary for MATN3 Gene

  • This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

GeneCards Summary for MATN3 Gene

MATN3 (Matrilin 3) is a Protein Coding gene. Diseases associated with MATN3 include Epiphyseal Dysplasia, Multiple, 5 and Spondyloepimetaphyseal Dysplasia. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is MATN1.

UniProtKB/Swiss-Prot for MATN3 Gene

  • Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.

Gene Wiki entry for MATN3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MATN3 Gene

Genomics for MATN3 Gene

Regulatory Elements for MATN3 Gene

Enhancers for MATN3 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
GH02G020061 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26.9 -50.3 -50337 3.4 CTCF SP3 ZNF362 BHLHE40 SP2 ZNF384 EBF1 ZSCAN21 POLR2A FOS MATN3 LOC105373463 TTC32 GC02M020086
GH02G020090 1.5 Ensembl ENCODE dbSUPER 25.9 -80.3 -80318 4.9 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 TCF12 SLC30A9 GATA2 MATN3 ENSG00000234378 LOC101928222 WDR35 RNU6-961P RNU7-113P LOC105373463 GC02M020086
GH02G020181 2 FANTOM5 Ensembl ENCODE dbSUPER 18.7 -171.9 -171919 5.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 ZBTB7B YY1 SLC30A9 SDC1 MATN3 RNU7-113P HS1BP3 TTC32 RNU6-961P GC02M020197
GH02G020047 1.8 FANTOM5 ENCODE dbSUPER 18.2 -38.1 -38057 5.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MATN3 ENSG00000234378 LOC105373463 TTC32 PUM2 LAPTM4A PIR35445 GC02P020023
GH02G020166 1.5 Ensembl ENCODE dbSUPER 14.8 -153.9 -153939 2.0 HDGF FOXA2 ARNT ZNF493 WRNIP1 ZNF133 YBX1 TCF12 CBX5 ZNF548 TTC32 MATN3 SDC1 LINC01376 GC02M020159 GC02P020178
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MATN3 on UCSC Golden Path with GeneCards custom track

Promoters for MATN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113714 -6 601 PKNOX1 FUS SIN3A ZNF48 ZSCAN9 SLC30A9 RELB CREM CEBPB GATAD2B

Genomic Location for MATN3 Gene

Chromosome:
2
Start:
19,992,052 bp from pter
End:
20,012,694 bp from pter
Size:
20,643 bases
Orientation:
Minus strand

Genomic View for MATN3 Gene

Genes around MATN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MATN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MATN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MATN3 Gene

Proteins for MATN3 Gene

  • Protein details for MATN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15232-MATN3_HUMAN
    Recommended name:
    Matrilin-3
    Protein Accession:
    O15232
    Secondary Accessions:
    • B2CPU0
    • Q4ZG02

    Protein attributes for MATN3 Gene

    Size:
    486 amino acids
    Molecular mass:
    52817 Da
    Quaternary structure:
    • Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By similarity). Interacts with COMP.

    Alternative splice isoforms for MATN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MATN3 Gene

Post-translational modifications for MATN3 Gene

  • Glycosylation at Ser53 and Thr65
  • Modification sites at PhosphoSitePlus

Other Protein References for MATN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MATN3 Gene

Domains & Families for MATN3 Gene

Suggested Antigen Peptide Sequences for MATN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MATN3: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MATN3 Gene

Function for MATN3 Gene

Molecular function for MATN3 Gene

GENATLAS Biochemistry:
matrilin 3,involved in the differentiation state of chondrocytes
UniProtKB/Swiss-Prot Function:
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.

Gene Ontology (GO) - Molecular Function for MATN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 9350998
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15075323
genes like me logo Genes that share ontologies with MATN3: view
genes like me logo Genes that share phenotypes with MATN3: view

Human Phenotype Ontology for MATN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MATN3 Gene

MGI Knock Outs for MATN3:

Animal Model Products

miRNA for MATN3 Gene

miRTarBase miRNAs that target MATN3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MATN3 Gene

Localization for MATN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATN3 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 MATN3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
plasma membrane 1
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MATN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS,IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with MATN3: view

Pathways & Interactions for MATN3 Gene

genes like me logo Genes that share pathways with MATN3: view

Pathways by source for MATN3 Gene

2 Reactome pathways for MATN3 Gene

Gene Ontology (GO) - Biological Process for MATN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 9350998
GO:0030198 extracellular matrix organization TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MATN3: view

No data available for SIGNOR curated interactions for MATN3 Gene

Drugs & Compounds for MATN3 Gene

(1) Drugs for MATN3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MATN3: view

Transcripts for MATN3 Gene

mRNA/cDNA for MATN3 Gene

Unigene Clusters for MATN3 Gene

Matrilin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MATN3 Gene

No ASD Table

Relevant External Links for MATN3 Gene

GeneLoc Exon Structure for
MATN3
ECgene alternative splicing isoforms for
MATN3

Expression for MATN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MATN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MATN3 Gene

This gene is overexpressed in Nerve - Tibial (x5.0).

Protein differential expression in normal tissues from HIPED for MATN3 Gene

This gene is overexpressed in Liver (41.1) and Breast (27.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MATN3 Gene



Protein tissue co-expression partners for MATN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MATN3 Gene:

MATN3

SOURCE GeneReport for Unigene cluster for MATN3 Gene:

Hs.656199

mRNA Expression by UniProt/SwissProt for MATN3 Gene:

O15232-MATN3_HUMAN
Tissue specificity: Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.

Phenotype-based relationships between genes and organs from Gene ORGANizer for MATN3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MATN3: view

Primer Products

No data available for Evidence on tissue expression from TISSUES for MATN3 Gene

Orthologs for MATN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MATN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MATN3 34 35
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia MATN3 34 35
  • 86.56 (n)
cow
(Bos Taurus)
Mammalia MATN3 34 35
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Matn3 34 16 35
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Matn3 34
  • 82.26 (n)
chicken
(Gallus gallus)
Aves MATN3 34 35
  • 65.52 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia matn3 34
  • 65.31 (n)
zebrafish
(Danio rerio)
Actinopterygii matn3a 35
  • 50 (a)
OneToMany
matn3b 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mup-4 35
  • 7 (a)
OneToMany
Species where no ortholog for MATN3 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 MATN3 Gene

ENSEMBL:
Gene Tree for MATN3 (if available)
TreeFam:
Gene Tree for MATN3 (if available)

Paralogs for MATN3 Gene

(4) SIMAP similar genes for MATN3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MATN3: view

Variants for MATN3 Gene

Sequence variations from dbSNP and Humsavar for MATN3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893637 Pathogenic, Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] 20,006,173(-) ACACG(C/T)GGGTG reference, missense
rs104893639 Pathogenic, Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728] 20,003,167(-) AAACG(A/T)GTTCA intron-variant, reference, missense
rs104893640 Pathogenic, Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] 20,012,423(-) TGGCC(A/G)CGCCC reference, missense
rs104893641 Pathogenic, Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] 20,006,152(-) ACTAT(C/G)CTAGC reference, missense
rs104893645 Pathogenic, Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078] 20,005,953(-) CATTG(A/T)TACAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MATN3 Gene

Variant ID Type Subtype PubMed ID
dgv3736n100 CNV gain 25217958
esv29979 CNV loss 17803354

Variation tolerance for MATN3 Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MATN3 Gene

Human Gene Mutation Database (HGMD)
MATN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MATN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MATN3 Gene

Disorders for MATN3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MATN3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epiphyseal dysplasia, multiple, 5
  • multiple epiphyseal dysplasia 5
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia, matrilin-3 related
spondyloepimetaphyseal dysplasia, matn3-related
  • semd, matn3-related
multiple epiphyseal dysplasia, dominant
multiple epiphyseal dysplasia
  • epiphyseal dysplasia, multiple, 2
- elite association - COSMIC cancer census association via MalaCards
Search MATN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MATN3_HUMAN
  • Multiple epiphyseal dysplasia 5 (EDM5) [MIM:607078]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. {ECO:0000269 PubMed:11479597, ECO:0000269 PubMed:12884427, ECO:0000269 PubMed:14729835, ECO:0000269 PubMed:15459972, ECO:0000269 PubMed:15948199, ECO:0000269 PubMed:16287128, ECO:0000269 PubMed:21922596}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteoarthritis 2 (OS2) [MIM:140600]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected. {ECO:0000269 PubMed:12736871}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3) [MIM:608728]: A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies. {ECO:0000269 PubMed:15121775}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MATN3

Genetic Association Database (GAD)
MATN3
Human Genome Epidemiology (HuGE) Navigator
MATN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MATN3
genes like me logo Genes that share disorders with MATN3: view

No data available for Genatlas for MATN3 Gene

Publications for MATN3 Gene

  1. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. (PMID: 11479597) Chapman K.L. … Briggs M.D. (Nat. Genet. 2001) 3 4 22 46 64
  2. Primary structure of matrilin-3, a new member of a family of extracellular matrix proteins related to cartilage matrix protein (matrilin-1) and von Willebrand factor. (PMID: 9287130) Wagener R. … Paulsson M. (FEBS Lett. 1997) 2 3 4 22 64
  3. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. (PMID: 16287128) Cotterill S.L. … Briggs M.D. (Hum. Mutat. 2005) 3 4 22 64
  4. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. (PMID: 15523498) Jakkula E. … Ala-Kokko L. (Eur. J. Hum. Genet. 2005) 3 22 46 64
  5. 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 22 64

Products for MATN3 Gene

Sources for MATN3 Gene

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