Human Gene MATN2 (ENST00000524308.5) Description and Page Index
  Description: Homo sapiens matrilin 2 (MATN2), transcript variant 3, mRNA. (from RefSeq NM_001317748)
RefSeq Summary (NM_001317748): 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].
Gencode Transcript: ENST00000524308.5
Gencode Gene: ENSG00000132561.14
Transcript (Including UTRs)
   Position: hg38 chr8:97,869,111-98,036,210 Size: 167,100 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr8:97,888,101-98,035,712 Size: 147,612 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:97,869,111-98,036,210)mRNA (may differ from genome)Protein (915 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Matrilin-2; Flags: Precursor;
FUNCTION: Involved in matrix assembly (By similarity).
INTERACTION: O15265:ATXN7; NbExp=2; IntAct=EBI-949020, EBI-708350; O00555:CACNA1A; NbExp=2; IntAct=EBI-949020, EBI-766279;
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 10 EGF-like domains.
SIMILARITY: Contains 2 VWFA domains.
SEQUENCE CAUTION: Sequence=CAD38787.1; Type=Erroneous initiation;

-  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

-  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
  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 -98.60203-0.486 Picture PostScript Text
3' UTR -112.70498-0.226 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
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR019466 - Matrilin_coiled-coil_trimer
IPR002035 - VWF_A

Pfam Domains:
PF00008 - EGF-like domain
PF07645 - Calcium-binding EGF domain
PF10393 - Trimeric coiled-coil oligomerisation domain of matrilin
PF00092 - von Willebrand factor type A domain

ModBase Predicted Comparative 3D Structure on O00339
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0001764 neuron migration
GO:0007411 axon guidance
GO:0008150 biological_process
GO:0008347 glial cell migration
GO:0031104 dendrite regeneration
GO:0031175 neuron projection development
GO:0048678 response to axon injury

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0031012 extracellular matrix

-  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.
JD057064 - Sequence 38088 from Patent EP1572962.
JD404826 - Sequence 385850 from Patent EP1572962.
JD404827 - Sequence 385851 from Patent EP1572962.
JD304749 - Sequence 285773 from Patent EP1572962.
JD320020 - Sequence 301044 from Patent EP1572962.
JD327095 - Sequence 308119 from Patent EP1572962.
JD422582 - Sequence 403606 from Patent EP1572962.
JD403009 - Sequence 384033 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K106, E7EW74, E9PD48, E9PGL2, MATN2_HUMAN, NM_001317748, O00339, Q6UWA5, Q7Z5X1, Q8NDE6, Q96FT5, Q9NSZ1, uc064ovn.1, UNQ193/PRO219
UCSC ID: uc064ovn.1
RefSeq Accession: NM_001317748
Protein: O00339 (aka MATN2_HUMAN or MTN2_HUMAN)
CCDS: CCDS55264.1, CCDS55265.1, CCDS83309.1

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