Human Gene MATN2 (uc010mbh.1) Description and Page Index
  Description: Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.
RefSeq Summary (NM_002380): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:98,881,311-99,045,887 Size: 164,577 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr8:98,900,329-99,045,886 Size: 145,558 Coding Exon Count: 16 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:98,881,311-99,045,887)mRNA (may differ from genome)Protein (897 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MATN2
CDC HuGE Published Literature: MATN2
Positive Disease Associations: Potassium
Related Studies:
  1. Potassium
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: MATN2
Diseases sorted by gene-association score: pilocytic astrocytoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.09 RPKM in Cervix - Ectocervix
Total median expression: 907.73 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.40231-0.513 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00092 - von Willebrand factor type A domain
PF07645 - Calcium-binding EGF domain
PF10393 - Trimeric coiled-coil oligomerisation domain of matrilin
PF12661 - Human growth factor-like EGF
PF12662 - Complement Clr-like EGF-like
PF13519 - von Willebrand factor type A domain
PF14670 - Coagulation Factor Xa inhibitory site

SCOP Domains:
53300 - vWA-like
57196 - EGF/Laminin
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on O00339-3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Descriptions from all associated GenBank mRNAs
  AK289721 - Homo sapiens cDNA FLJ75188 complete cds, highly similar to Homo sapiens matrilin 2, transcript variant 2, mRNA.
HM005717 - Homo sapiens clone HTL-T-94mP testis tissue sperm-binding protein Li 94mP mRNA, complete cds.
BC010444 - Homo sapiens matrilin 2, mRNA (cDNA clone MGC:17281 IMAGE:4215380), complete cds.
AY358895 - Homo sapiens clone DNA32290 MATN2 (UNQ193) mRNA, complete cds.
AK075489 - Homo sapiens cDNA PSEC0183 fis, clone OVARC1001849, highly similar to Matrilin-2 precursor.
AL833931 - Homo sapiens mRNA; cDNA DKFZp434I245 (from clone DKFZp434I245); complete cds.
AL137638 - Homo sapiens mRNA; cDNA DKFZp434J065 (from clone DKFZp434J065).
U69263 - Homo sapiens matrilin-2 precursor, mRNA, complete cds.
AB527850 - Synthetic construct DNA, clone: pF1KB8523, Homo sapiens MATN2 gene for matrilin 2, without stop codon, in Flexi system.
KJ897169 - Synthetic construct Homo sapiens clone ccsbBroadEn_06563 MATN2 gene, encodes complete protein.
BX649093 - Homo sapiens mRNA; cDNA DKFZp779M0969 (from clone DKFZp779M0969).
BC016394 - Homo sapiens matrilin 2, mRNA (cDNA clone IMAGE:3863870), partial cds.
AK027775 - Homo sapiens cDNA FLJ14869 fis, clone PLACE1002474, moderately similar to Mus musculus matrilin-2 precursor mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: AY358895, O00339-3, UNQ193/PRO219
UCSC ID: uc010mbh.1
RefSeq Accession: NM_002380
Protein: O00339-3, splice isoform of O00339

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AY358895.1
exon count: 17CDS single in 3' UTR: no RNA size: 3449
ORF size: 2691CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 5171.00frame shift in genome: no % Coverage: 83.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.