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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MATN2 Gene

protein-coding GIFtS: 55
GCID: GC08P098881

matrilin 2

Explore 10 diseases affiliated with
MATN2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Matrilin 2¹ ²
Matrilin-2¹

External Ids:	HGNC: 6908¹	Entrez Gene: 4147²	Ensembl: ENSG00000132561⁷	OMIM: 602108⁵	UniProtKB: O00339³

Export aliases for MATN2 gene to outside databases

Previous GC identifers: GC08P097909 GC08P098955 GC08P098550 GC08P098837 GC08P098950 GC08P094085

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MATN2:

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)

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339

Function: Involved in matrix assembly (By similarity)

Gene Wiki entry for MATN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MATN2 gene promoter:
HOXA9 p53 AML1a NF-AT NF-AT4 NF-AT2 POU2F1 POU2F1a NF-AT3 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MATN2 promoter sequence

Search SABiosciences Chromatin IP Primers for MATN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22 Ensembl cytogenetic band: 8q22.1 HGNC cytogenetic band: 8q22.1-q22.2

MATN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATN2 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P098881: view genomic region (about GC identifiers)

Start:	98,881,068 bp from pter	End:	99,048,948 bp from pter
Size:	167,881 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339 (See protein sequence)

Recommended Name: Matrilin-2 precursor

Size: 956 amino acids; 106837 Da

Subcellular location: Secreted

Sequence caution: Sequence=CAD38787.1; Type=Erroneous initiation;

Secondary accessions: A8K106 E7EW74 E9PD48 E9PGL2 Q6UWA5 Q7Z5X1 Q8NDE6 Q96FT5 Q9NSZ1

Alternative splicing: 4 isoforms: O00339-1 O00339-2 O00339-3 O00339-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MATN2: NX_O00339

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O00339

MATN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_002371.3 NP_085072.2

ENSEMBL proteins:

ENSP00000429977 ENSP00000430221 ENSP00000429010 ENSP00000430487 ENSP00000429622

ENSP00000430396 ENSP00000429042 ENSP00000429825 ENSP00000429256 ENSP00000429885

ENSP00000430358 ENSP00000429354 ENSP00000254898

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for MATN2 (Matrilin-2)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: MATN2 OriGene Protein Over-expression Lysate (see all 3): MATN2 OriGene Custom Protein Services for MATN2
	GenScript Custom Purified and Recombinant Proteins Services for MATN2
	Novus Biologicals MATN2 Proteins Novus Biologicals MATN2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MATN2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005578	proteinaceous extracellular matrix	NAS	11124542
GO:0005604	basement membrane	IEA	--
GO:0031012	colocalizes with extracellular matrix	ISS	--

MATN2 for ontologies About GeneDecksing

MATN2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for MATN2 (Matrilin-2)
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	Novus Biologicals MATN2 Antibodies
	Search for Antibodies for MATN2 at Abcam
	Uscn Antibodies for MATN2
	ThermoFisher Antibodies for MATN2

Assay Products for MATN2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MATN2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MATN2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MATN2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR000742 EG-like_dom

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR019466 Matrilin_coiled-coil_trimer

IPR001881 EGF-like_Ca-bd

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry O00339

ProtoNet protein and cluster: O00339

2 Blocks protein families:

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB001881 EGF-like calcium-binding

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339

Similarity: Contains 10 EGF-like domains

Similarity: Contains 2 VWFA domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MATN2_HUMAN, O00339

Function: Involved in matrix assembly (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MATN2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN2
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN2 (see all 25):
		hsa-miR-3910 hsa-miR-448 hsa-miR-300 hsa-miR-4260 hsa-miR-3200-3p hsa-miR-124 hsa-miR-298 hsa-miR-889

		SwitchGear 3'UTR luciferase reporter plasmid: MATN2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATN2 (see all 4) OriGene shRNA RFP: MATN2 OriGene siRNA: MATN2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MATN2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MATN2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MATN2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): MATN2 (NM_002380)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MATN2
		Search LifeMap BioReagents cell lines for MATN2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	--

MATN2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for MATN2:

Cells with protrusions

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Matn2^tm1Asz for MATN2
1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Matn2):

normal

MATN2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MATN2

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/18 Interacting proteins for MATN2 (O00339^{1, 3} ENSP00000254898⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATXN7	O15265¹^,³	EBI-949020,EBI-3866216 I2D: score=1
CACNA1A	O00555¹^,³	EBI-949020,EBI-766279 I2D: score=1
ATXN1	P54253³, ENSP00000244769⁴	I2D: score=2 STRING: ENSP00000244769
COL1A1	P02452³, ENSP00000225964⁴	I2D: score=2 STRING: ENSP00000225964
FBN2	P35556³, ENSP00000262464⁴	I2D: score=2 STRING: ENSP00000262464

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

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	--

MATN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MATN2
Search CenterWatch for drugs/clinical trials and news about MATN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MATN2 gene (2 alternative transcripts):

NM_002380.3 NM_030583.2

Unigene Cluster for MATN2:

Matrilin 2

Hs.189445 [show with all ESTs]

Unigene Representative Sequence: BX648291

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000521689 ENST00000524308 ENST00000523490(uc003yib.1) ENST00000522025

ENST00000520160 ENST00000520016(uc003yie.1 uc010mbi.1) ENST00000518154

ENST00000521041 ENST00000519585 ENST00000518238 ENST00000522270 ENST00000521952

ENST00000517321 ENST00000518370 ENST00000519582 ENST00000523561 ENST00000522135

ENST00000254898(uc010mbh.1 uc003yic.3 uc003yid.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MATN2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATN2
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate MATN2 (see all 25):
		hsa-miR-3910 hsa-miR-448 hsa-miR-300 hsa-miR-4260 hsa-miR-3200-3p hsa-miR-124 hsa-miR-298 hsa-miR-889

		SwitchGear 3'UTR luciferase reporter plasmid: MATN2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATN2 (see all 4) OriGene shRNA RFP: MATN2 OriGene siRNA: MATN2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATN2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MATN2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MATN2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): MATN2 (NM_002380)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MATN2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MATN2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN2

Additional cDNA sequence:

AK027775.1 AK289721.1 AL137638.1 AL833931.1 AY358895.1 BC010444.1 BC016394.1 BX648291.1

BX649093.1

21 DOTS entries:

DT.100820581 DT.100026933 DT.121483898 DT.95373425 DT.97775096 DT.100820590 DT.91905475 DT.121483882

DT.95280365 DT.75138468 DT.100820588 DT.91853802 DT.100820585 DT.121483974 DT.102832189 DT.436162

DT.121484006 DT.95121008 DT.95373419 DT.100715248 DT.121483927

24/259 AceView cDNA sequences (see all 259):

AI675601 BF569563 BM971891 CB988661 N53823 AI131119 BE550639 AA782744

AI073942 AK075489 CA844011 CA843263 AA595425 AI769294 BE550534 AI217065

AI970871 AI215875 AA595022 AI804413 AA693916 BX356717 BG675168 N52700

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MATN2 (see all 9) About this scheme

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:

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

ECgene alternative splicing isoforms for MATN2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MATN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGAGAGAA

About this image

MATN2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Brain

Brain

Diencephalic Roof Plate

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Articular chondrocyte-like cells (HyStem chondrogenic ...)

Cartilage

Micromass-induced chondrocytes (Micromass chondrogen...)

Bone, Cartilage

See MATN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MATN2

SOURCE GeneReport for Unigene cluster: Hs.189445

SABiosciences Custom PCR Arrays for MATN2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MATN2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MATN2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATN2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATN2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MATN2 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MATN2¹	matrilin 2	71.15(n) 71.46(a)		426584 XM_424219.3 XP_424219.3
lizard (Anolis carolinensis)	Reptilia	MATN2⁶	--	68(a)	1 ↔ 1	4(20590566-20650449)
African clawed frog (Xenopus laevis)	Amphibia	matn2-prov²	matrilin 2	75.06(n)		BC045220.1
zebrafish (Danio rerio)	Actinopterygii	matn4¹	matrilin 4	57.29(n) 48.74(a)		497348 NM_213549.1 NP_998714.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MATN2 gene

VWA1² MATN4² COL14A1² COL9A1² MATN3² COL12A1² VIT² COL9A3²

COCH² COL9A2² COL20A1² VWA2² MATN1² COL21A1²

17 SIMAP similar genes for MATN2 using alignment to 10 protein entries: MATN2_HUMAN (see all proteins):

MATN1 F9 COL21A1 F7 MATN3 PROS1

FBLN5 LDLR COCH ITGA2 SCUBE2 FBLN2

EFEMP1 MATN4 FBN2 UMOD NELL1

MATN2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11774615^1,2	H	--	94165357(+)	`gtttcA/Tccatg`	1	--	us2k¹		0	--	--	--	--
rs3214828^1,2	C,	--	94166442(-)	`CATCCC/-TGCCC`	1	--	us2k¹		2		NA	4
rs202096043^1,2	C	--	94166442(+)	`GGGCAA/GGGATG`	1	--	us2k¹		0	--	--	--	--
rs55972155^1,2	C,F,	--	94167182(+)	`TGGGAG/ACTTAG`	1	--	int¹		6		NA WA CSA	246
rs79606209^1,2	C,F,	--	94167648(+)	`AAGGGG/AGTTTA`	1	--	int¹		1		WA	118
rs35855279^1,2	C	--	94167728(+)	`GTTTG-/TTTA TTTAT`	1	--	int¹		0	--	--	--	--
rs78138296^1,2	F,	--	94167822(+)	`TTCCCC/TGAGGA`	1	--	int¹		1		WA	118
rs112430535^1,2		--	94167862(+)	`ATTGAT/CTGAAA`	1	--	int¹		2		CSA WA	120
rs80041600^1,2	C,F,	--	94168308(+)	`AAGGTG/ATTCAT`	1	--	ds500¹		1		WA	118
rs113954520^1,2		--	94168691(+)	`AGGCAG/CTGAAA`	1	--	ds500¹		1		CSA	2

HapMap Linkage Disequilibrium report for MATN2 (98881068 - 99048948 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MATN2
1 CNV: 70406

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MATN2

DNA2.0 Custom Variant and Variant Library Synthesis for MATN2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MATN2 for disorders           About GeneDecksing

OMIM gene information: 602108    OMIM disorders: --

10 diseases for MATN2:    About MalaCards

pilocytic astrocytoma macular degeneration liver cirrhosis astrocytoma

hepatocellular carcinoma pharyngitis ataxia thyroiditis

carcinoma neuronitis

Human Genome Epidemiology (HuGE) Navigator: MATN2 (5 documents)

Export disorders for MATN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MATN2 gene, integrated from 9 sources (see all 31):
(articles sorted by number of sources associating them with MATN2)

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Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A- like module superfamily. (PubMed id 9083061)^{1, 2, 3, 9} Deak F.... Kiss I. (1997)
Comparative analysis of the mouse and human genes (Ma tn2 and MATN2) for matrilin-2, a filament-forming protein widely distributed in extracellular matrices. (PubMed id 11852232)^{1, 3, 9} MA!tAcs L....Kiss I. (2002)
Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes. (PubMed id 11124542)^{1, 2, 9} Muratoglu S.... Deak F. (2000)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Matrilin-2 interacts with itself and with other extracellular matrix proteins. (PubMed id 12180907)^{1, 9} Piecha D....Paulsson M. (2002)
Expression of matrilin-2 in liver cirrhosis and hepatocellular carcinoma. (PubMed id 18386166)^{1, 9} Szabo E....Kiss A. (2008)
Expression of matrilin-2 in human skin. (PubMed id 12164922)^{1, 9} Piecha D....Paulsson M. (2002)
DeltaNp63/BMP-7-dependent expression of matrilin-2 is involved in keratinocyte migration in response to wounding. (PubMed id 18328806)^{1, 9} Ichikawa T....Nakagawara A. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4147	HGNC: 6908	AceView: MATN2	Ensembl:ENSG00000132561	euGenes: HUgn4147
ECgene: MATN2	H-InvDB: MATN2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MATN2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MATN2 gene
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Patent Information for MATN2 gene:
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