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Aliases for MATN2 Gene

Aliases for MATN2 Gene

  • Matrilin 2 2 3 5
  • Testis Tissue Sperm-Binding Protein Li 94mP 3
  • Matrilin-2 3

External Ids for MATN2 Gene

Previous GeneCards Identifiers for MATN2 Gene

  • GC08P098955
  • GC08P098550
  • GC08P098837
  • GC08P098950
  • GC08P098881
  • GC08P094085

Summaries for MATN2 Gene

Entrez Gene Summary for MATN2 Gene

  • This gene encodes a member of the 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 five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MATN2 Gene

MATN2 (Matrilin 2) is a Protein Coding gene. Diseases associated with MATN2 include Pilocytic Astrocytoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MATN4.

UniProtKB/Swiss-Prot for MATN2 Gene

  • Involved in matrix assembly.

Gene Wiki entry for MATN2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MATN2 Gene

Genomics for MATN2 Gene

Regulatory Elements for MATN2 Gene

Enhancers for MATN2 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
GH08G097922 1.3 Ensembl ENCODE dbSUPER 17.8 +56.4 56427 5.6 DMAP1 ZNF48 RAD21 YY1 FOS ZNF781 ZNF518A NR2F2 SMARCA4 MXD3 MATN2 ENSG00000245970 RPS23P1 TSPYL5 GC08M097916 GC08P097993
GH08G097830 1.1 FANTOM5 ENCODE 19.1 -37.4 -37353 2.0 HDGF PKNOX1 NFIB SUZ12 BMI1 ZBTB7B ZKSCAN1 MTA3 CTBP1 GATA3 LAPTM4B MATN2 ENSG00000202399 RPS23P1 SNORA72 RPL30 ENSG00000245970 ERICH5 POP1 PIR33604
GH08G097918 1.1 Ensembl ENCODE 18.4 +49.9 49920 1.1 HDAC1 CTCF ESRRA PKNOX1 TBL1XR1 JUN ZFP64 TAL1 TEAD4 RAD21 MATN2 RPS23P1 GC08M097916 GC08P097916
GH08G097911 1.2 Ensembl ENCODE dbSUPER 16.1 +43.4 43362 2.4 SCRT1 FOXA2 FOXA3 HLF FEZF1 ZBTB40 EP300 ZNF843 HHEX OSR2 MATN2 RPS23P1 ERICH5 GC08P097916
GH08G097928 1.5 Ensembl ENCODE dbSUPER 12.3 +60.5 60455 1.9 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B ELK1 ZNF143 ZNF207 FOS MATN2 POP1 GC08M097916 GC08P097993
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MATN2 on UCSC Golden Path with GeneCards custom track

Promoters for MATN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000227595 460 1001 RB1 SIN3A ZNF48 RAD21 ELK1 SCRT2 ZNF143 SP3 REST MTA1

Genomic Location for MATN2 Gene

Chromosome:
8
Start:
97,868,840 bp from pter
End:
98,036,720 bp from pter
Size:
167,881 bases
Orientation:
Plus strand

Genomic View for MATN2 Gene

Genes around MATN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MATN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MATN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MATN2 Gene

Proteins for MATN2 Gene

  • Protein details for MATN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00339-MATN2_HUMAN
    Recommended name:
    Matrilin-2
    Protein Accession:
    O00339
    Secondary Accessions:
    • A8K106
    • E7EW74
    • E9PD48
    • E9PGL2
    • Q6UWA5
    • Q7Z5X1
    • Q8NDE6
    • Q96FT5
    • Q9NSZ1

    Protein attributes for MATN2 Gene

    Size:
    956 amino acids
    Molecular mass:
    106837 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD38787.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MATN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MATN2 Gene

Post-translational modifications for MATN2 Gene

  • Glycosylation at posLast=4040, Asn221, Thr902, and posLast=905905
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MATN2 Gene

Domains & Families for MATN2 Gene

Suggested Antigen Peptide Sequences for MATN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MATN2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MATN2 Gene

Function for MATN2 Gene

Molecular function for MATN2 Gene

UniProtKB/Swiss-Prot Function:
Involved in matrix assembly.

Gene Ontology (GO) - Molecular Function for MATN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 21078624
genes like me logo Genes that share ontologies with MATN2: view
genes like me logo Genes that share phenotypes with MATN2: view

Animal Models for MATN2 Gene

MGI Knock Outs for MATN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for MATN2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MATN2 Gene

Localization for MATN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATN2 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 MATN2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MATN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA,NAS 11124542
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with MATN2: view

Pathways & Interactions for MATN2 Gene

SuperPathways for MATN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MATN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0007411 axon guidance IEA --
GO:0008150 biological_process ND --
GO:0008347 glial cell migration IEA --
GO:0031104 dendrite regeneration IEA --
genes like me logo Genes that share ontologies with MATN2: view

No data available for Pathways by source and SIGNOR curated interactions for MATN2 Gene

Drugs & Compounds for MATN2 Gene

No Compound Related Data Available

Transcripts for MATN2 Gene

Unigene Clusters for MATN2 Gene

Matrilin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MATN2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16 ^
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:

ExUns: 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for MATN2 Gene

GeneLoc Exon Structure for
MATN2
ECgene alternative splicing isoforms for
MATN2

Expression for MATN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MATN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MATN2 Gene

This gene is overexpressed in Cervix - Ectocervix (x4.9).

Protein differential expression in normal tissues from HIPED for MATN2 Gene

This gene is overexpressed in Amniocyte (27.3) and Gallbladder (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MATN2 Gene



Protein tissue co-expression partners for MATN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MATN2 Gene:

MATN2

SOURCE GeneReport for Unigene cluster for MATN2 Gene:

Hs.189445

Evidence on tissue expression from TISSUES for MATN2 Gene

  • Nervous system(4.8)
  • Skin(2.2)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with MATN2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MATN2 Gene

Orthologs for MATN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MATN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MATN2 34 35
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia MATN2 34 35
  • 89.61 (n)
dog
(Canis familiaris)
Mammalia MATN2 34 35
  • 89.12 (n)
rat
(Rattus norvegicus)
Mammalia Matn2 34
  • 87.87 (n)
mouse
(Mus musculus)
Mammalia Matn2 34 16 35
  • 86.18 (n)
oppossum
(Monodelphis domestica)
Mammalia MATN2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MATN2 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MATN2 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATN2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia matn2 34
  • 66.59 (n)
MGC76198 34
African clawed frog
(Xenopus laevis)
Amphibia matn2-prov 34
zebrafish
(Danio rerio)
Actinopterygii matn4 34
  • 57.22 (n)
worm
(Caenorhabditis elegans)
Secernentea mup-4 36 35
  • 27 (a)
Species where no ortholog for MATN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 MATN2 Gene

ENSEMBL:
Gene Tree for MATN2 (if available)
TreeFam:
Gene Tree for MATN2 (if available)

Paralogs for MATN2 Gene

genes like me logo Genes that share paralogs with MATN2: view

Variants for MATN2 Gene

Sequence variations from dbSNP and Humsavar for MATN2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000008860 -- 98,011,754(+) CGTCT(C/T)ATGTG intron-variant
rs1000014169 -- 97,964,486(+) TCTTG(C/T)TCTGT intron-variant
rs1000044644 -- 97,876,569(+) TCTGC(C/T)CGGCT intron-variant
rs1000053604 -- 97,870,924(+) CCACA(C/G)TTTTT intron-variant
rs1000061800 -- 98,011,764(+) GGAGC(C/T)CCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MATN2 Gene

Variant ID Type Subtype PubMed ID
esv26559 CNV gain 19812545
esv3543909 CNV deletion 23714750
nsv477490 CNV novel sequence insertion 20440878
nsv478004 CNV novel sequence insertion 20440878
nsv528695 CNV gain 19592680

Variation tolerance for MATN2 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.18; 92.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MATN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MATN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MATN2 Gene

Disorders for MATN2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MATN2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pilocytic astrocytoma
  • grade i astrocytic tumor
- elite association - COSMIC cancer census association via MalaCards
Search MATN2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MATN2

Genetic Association Database (GAD)
MATN2
Human Genome Epidemiology (HuGE) Navigator
MATN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MATN2
genes like me logo Genes that share disorders with MATN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MATN2 Gene

Publications for MATN2 Gene

  1. Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A- like module superfamily. (PMID: 9083061) Deak F. … Kiss I. (J. Biol. Chem. 1997) 2 3 4 22 64
  2. Comparative analysis of the mouse and human genes (Matn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices. (PMID: 11852232) MA!tAcs L. … Kiss I. (Matrix Biol. 2002) 2 3 22 64
  3. Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes. (PMID: 11124542) Muratoglu S. … Deak F. (Cytogenet. Cell Genet. 2000) 3 4 22 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I. … Robledo M. (PLoS Genet. 2009) 3 46 64

Products for MATN2 Gene

Sources for MATN2 Gene

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