Human Gene MATN4 (uc002xnn.2)
  Description: Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.
RefSeq Summary (NM_003833): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:43,922,087-43,936,967 Size: 14,881 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr20:43,922,407-43,934,222 Size: 11,816 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:43,922,087-43,936,967)mRNA (may differ from genome)Protein (581 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MATN4
Diseases sorted by gene-association score: stromal dystrophy (4), multiple epiphyseal dysplasia (4)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.22 RPKM in Pancreas
Total median expression: 9.17 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.10187-0.321 Picture PostScript Text
3' UTR -161.60320-0.505 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
PF13519 - von Willebrand factor type A domain
PF13768 - 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 O95460-2
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  BC151219 - Homo sapiens matrilin 4, mRNA (cDNA clone MGC:164986 IMAGE:40148522), complete cds.
AK027323 - Homo sapiens cDNA FLJ14417 fis, clone HEMBA1005338, highly similar to Matrilin-4 precursor.
BC141811 - Homo sapiens matrilin 4, mRNA (cDNA clone MGC:164819 IMAGE:40147663), complete cds.
AK074595 - Homo sapiens cDNA FLJ90114 fis, clone HEMBA1006749, highly similar to Matrilin 4 isoform 2 precursor.
AK074597 - Homo sapiens cDNA FLJ90116 fis, clone HEMBA1006902, highly similar to Homo sapiens mRNA for matrilin-4.
AK074495 - Homo sapiens cDNA FLJ90014 fis, clone HEMBA1000590, highly similar to Homo sapiens mRNA for matrilin-4.
AK074593 - Homo sapiens cDNA FLJ90112 fis, clone HEMBA1006707, highly similar to Matrilin-4 precursor.
AJ007581 - Homo sapiens mRNA for matrilin-4, partial.
JD077495 - Sequence 58519 from Patent EP1572962.
JD515421 - Sequence 496445 from Patent EP1572962.
BC131763 - Homo sapiens matrilin 4, mRNA (cDNA clone MGC:156243 IMAGE:40121434), complete cds.
BC143625 - Homo sapiens cDNA clone IMAGE:9052138.
JD456011 - Sequence 437035 from Patent EP1572962.
JD116574 - Sequence 97598 from Patent EP1572962.
KJ897904 - Synthetic construct Homo sapiens clone ccsbBroadEn_07298 MATN4 gene, encodes complete protein.
KJ905973 - Synthetic construct Homo sapiens clone ccsbBroadEn_15643 MATN4 gene, encodes complete protein.
LF211865 - JP 2014500723-A/19368: Polycomb-Associated Non-Coding RNAs.
LF206010 - JP 2014500723-A/13513: Polycomb-Associated Non-Coding RNAs.
LF211867 - JP 2014500723-A/19370: Polycomb-Associated Non-Coding RNAs.
LF350537 - JP 2014500723-A/158040: Polycomb-Associated Non-Coding RNAs.
MA586114 - JP 2018138019-A/158040: Polycomb-Associated Non-Coding RNAs.
MA447442 - JP 2018138019-A/19368: Polycomb-Associated Non-Coding RNAs.
MA441587 - JP 2018138019-A/13513: Polycomb-Associated Non-Coding RNAs.
MA447444 - JP 2018138019-A/19370: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95460 (Reactome details) participates in the following event(s):

R-HSA-2424252 COMP binds collagen, fibronectin, aggrecan and matrilins
R-HSA-3000178 ECM proteoglycans
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: NM_003833, NP_003824, O95460-2
UCSC ID: uc002xnn.2
RefSeq Accession: NM_003833
Protein: O95460-2, splice isoform of O95460 CCDS: CCDS13348.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003833.3
exon count: 10CDS single in 3' UTR: no RNA size: 2270
ORF size: 1746CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2663.50frame shift in genome: no % Coverage: 99.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
selenocysteine: no end bleed into intron: 30# 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.