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Protein

Matrilin-2

Gene

MATN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in matrix assembly.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132561-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Matrilin-2
Gene namesi
Name:MATN2
ORF Names:UNQ193/PRO219
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:6908. MATN2.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: Ensembl
  • extracellular matrix Source: BHF-UCL
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi4147.
OpenTargetsiENSG00000132561.
PharmGKBiPA30651.

Polymorphism and mutation databases

BioMutaiMATN2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000000765524 – 956Matrilin-2Add BLAST933

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi221N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi242 ↔ 253PROSITE-ProRule annotation
Disulfide bondi249 ↔ 262PROSITE-ProRule annotation
Disulfide bondi264 ↔ 277PROSITE-ProRule annotation
Disulfide bondi283 ↔ 294PROSITE-ProRule annotation
Disulfide bondi290 ↔ 303PROSITE-ProRule annotation
Disulfide bondi305 ↔ 318PROSITE-ProRule annotation
Disulfide bondi324 ↔ 335PROSITE-ProRule annotation
Disulfide bondi331 ↔ 344PROSITE-ProRule annotation
Disulfide bondi346 ↔ 359PROSITE-ProRule annotation
Disulfide bondi365 ↔ 376PROSITE-ProRule annotation
Disulfide bondi372 ↔ 385PROSITE-ProRule annotation
Disulfide bondi387 ↔ 400PROSITE-ProRule annotation
Disulfide bondi406 ↔ 417PROSITE-ProRule annotation
Disulfide bondi413 ↔ 426PROSITE-ProRule annotation
Disulfide bondi428 ↔ 441PROSITE-ProRule annotation
Disulfide bondi447 ↔ 458PROSITE-ProRule annotation
Disulfide bondi454 ↔ 467PROSITE-ProRule annotation
Disulfide bondi469 ↔ 482PROSITE-ProRule annotation
Disulfide bondi488 ↔ 499PROSITE-ProRule annotation
Disulfide bondi495 ↔ 508PROSITE-ProRule annotation
Disulfide bondi510 ↔ 523PROSITE-ProRule annotation
Disulfide bondi529 ↔ 540PROSITE-ProRule annotation
Disulfide bondi536 ↔ 549PROSITE-ProRule annotation
Disulfide bondi551 ↔ 564PROSITE-ProRule annotation
Disulfide bondi570 ↔ 581PROSITE-ProRule annotation
Disulfide bondi577 ↔ 590PROSITE-ProRule annotation
Disulfide bondi592 ↔ 605PROSITE-ProRule annotation
Disulfide bondi611 ↔ 622PROSITE-ProRule annotation
Disulfide bondi618 ↔ 631PROSITE-ProRule annotation
Disulfide bondi633 ↔ 646PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO00339.
PaxDbiO00339.
PeptideAtlasiO00339.
PRIDEiO00339.

PTM databases

iPTMnetiO00339.
PhosphoSitePlusiO00339.

Expressioni

Gene expression databases

BgeeiENSG00000132561.
CleanExiHS_MATN2.
ExpressionAtlasiO00339. baseline and differential.
GenevisibleiO00339. HS.

Organism-specific databases

HPAiCAB033879.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ATXN7O152652EBI-949020,EBI-708350
CACNA1AO005552EBI-949020,EBI-766279

Protein-protein interaction databases

BioGridi110317. 14 interactors.
DIPiDIP-47267N.
IntActiO00339. 6 interactors.
STRINGi9606.ENSP00000430487.

Structurei

3D structure databases

ProteinModelPortaliO00339.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 232VWFA 1PROSITE-ProRule annotationAdd BLAST176
Domaini238 – 278EGF-like 1PROSITE-ProRule annotationAdd BLAST41
Domaini279 – 319EGF-like 2PROSITE-ProRule annotationAdd BLAST41
Domaini320 – 360EGF-like 3PROSITE-ProRule annotationAdd BLAST41
Domaini361 – 401EGF-like 4PROSITE-ProRule annotationAdd BLAST41
Domaini402 – 442EGF-like 5PROSITE-ProRule annotationAdd BLAST41
Domaini443 – 483EGF-like 6PROSITE-ProRule annotationAdd BLAST41
Domaini484 – 524EGF-like 7PROSITE-ProRule annotationAdd BLAST41
Domaini525 – 565EGF-like 8PROSITE-ProRule annotationAdd BLAST41
Domaini566 – 606EGF-like 9PROSITE-ProRule annotationAdd BLAST41
Domaini607 – 647EGF-like 10PROSITE-ProRule annotationAdd BLAST41
Domaini655 – 830VWFA 2PROSITE-ProRule annotationAdd BLAST176

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili917 – 955Sequence analysisAdd BLAST39

Sequence similaritiesi

Contains 10 EGF-like domains.PROSITE-ProRule annotation
Contains 2 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR7H. Eukaryota.
ENOG410XSTY. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG056906.
InParanoidiO00339.
OMAiQCSEGFL.
OrthoDBiEOG091G02GA.
TreeFamiTF330078.

Family and domain databases

Gene3Di1.20.5.30. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR026823. cEGF.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR009030. Growth_fac_rcpt_.
IPR019466. Matrilin_coiled-coil_trimer.
IPR002035. VWF_A.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
PF10393. Matrilin_ccoil. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 10 hits.
SM00179. EGF_CA. 10 hits.
SM01279. Matrilin_ccoil. 1 hit.
SM00327. VWA. 2 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 2 hits.
SSF57184. SSF57184. 3 hits.
PROSITEiPS00010. ASX_HYDROXYL. 9 hits.
PS01186. EGF_2. 9 hits.
PS50026. EGF_3. 4 hits.
PS50234. VWFA. 2 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00339-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKMLAGCFL LILGQIVLLP AEARERSRGR SISRGRHART HPQTALLESS
60 70 80 90 100
CENKRADLVF IIDSSRSVNT HDYAKVKEFI VDILQFLDIG PDVTRVGLLQ
110 120 130 140 150
YGSTVKNEFS LKTFKRKSEV ERAVKRMRHL STGTMTGLAI QYALNIAFSE
160 170 180 190 200
AEGARPLREN VPRVIMIVTD GRPQDSVAEV AAKARDTGIL IFAIGVGQVD
210 220 230 240 250
FNTLKSIGSE PHEDHVFLVA NFSQIETLTS VFQKKLCTAH MCSTLEHNCA
260 270 280 290 300
HFCINIPGSY VCRCKQGYIL NSDQTTCRIQ DLCAMEDHNC EQLCVNVPGS
310 320 330 340 350
FVCQCYSGYA LAEDGKRCVA VDYCASENHG CEHECVNADG SYLCQCHEGF
360 370 380 390 400
ALNPDKKTCT KIDYCASSNH GCQHECVNTD DSYSCHCLKG FTLNPDKKTC
410 420 430 440 450
RRINYCALNK PGCEHECVNM EESYYCRCHR GYTLDPNGKT CSRVDHCAQQ
460 470 480 490 500
DHGCEQLCLN TEDSFVCQCS EGFLINEDLK TCSRVDYCLL SDHGCEYSCV
510 520 530 540 550
NMDRSFACQC PEGHVLRSDG KTCAKLDSCA LGDHGCEHSC VSSEDSFVCQ
560 570 580 590 600
CFEGYILRED GKTCRRKDVC QAIDHGCEHI CVNSDDSYTC ECLEGFRLAE
610 620 630 640 650
DGKRCRRKDV CKSTHHGCEH ICVNNGNSYI CKCSEGFVLA EDGRRCKKCT
660 670 680 690 700
EGPIDLVFVI DGSKSLGEEN FEVVKQFVTG IIDSLTISPK AARVGLLQYS
710 720 730 740 750
TQVHTEFTLR NFNSAKDMKK AVAHMKYMGK GSMTGLALKH MFERSFTQGE
760 770 780 790 800
GARPLSTRVP RAAIVFTDGR AQDDVSEWAS KAKANGITMY AVGVGKAIEE
810 820 830 840 850
ELQEIASEPT NKHLFYAEDF STMDEISEKL KKGICEALED SDGRQDSPAG
860 870 880 890 900
ELPKTVQQPT ESEPVTINIQ DLLSCSNFAV QHRYLFEEDN LLRSTQKLSH
910 920 930 940 950
STKPSGSPLE EKHDQCKCEN LIMFQNLANE EVRKLTQRLE EMTQRMEALE

NRLRYR
Length:956
Mass (Da):106,837
Last modified:June 28, 2011 - v4
Checksum:iD0868FBF62744EF2
GO
Isoform 2 (identifier: O00339-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     861-879: Missing.

Show »
Length:937
Mass (Da):104,775
Checksum:i14FB20A486F3B9F0
GO
Isoform 3 (identifier: O00339-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-401: Missing.

Note: No experimental confirmation available.
Show »
Length:915
Mass (Da):102,232
Checksum:iB8C245C6EA17CDC1
GO
Isoform 4 (identifier: O00339-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-284: Missing.

Note: No experimental confirmation available.
Show »
Length:672
Mass (Da):75,251
Checksum:i933562EE766C3EC6
GO

Sequence cautioni

The sequence CAD38787 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti58L → P in BAF82410 (PubMed:14702039).Curated1
Sequence conflicti594E → V in AAC51260 (PubMed:11124542).Curated1
Sequence conflicti644R → G no nucleotide entry (PubMed:9083061).Curated1
Sequence conflicti755L → F in AAC51260 (PubMed:11124542).Curated1
Sequence conflicti890N → D in BAF82410 (PubMed:14702039).Curated1
Sequence conflicti935L → F no nucleotide entry (PubMed:9083061).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05575314G → A.Corresponds to variant rs35804177dbSNPEnsembl.1
Natural variantiVAR_055754187T → M.1 PublicationCorresponds to variant rs2290472dbSNPEnsembl.1
Natural variantiVAR_021568356K → E.2 PublicationsCorresponds to variant rs1869609dbSNPEnsembl.1
Natural variantiVAR_055755599A → T.Corresponds to variant rs35120814dbSNPEnsembl.1
Natural variantiVAR_055756855T → M.Corresponds to variant rs2255317dbSNPEnsembl.1
Natural variantiVAR_055757932V → I.Corresponds to variant rs17831160dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0145401 – 284Missing in isoform 4. 1 PublicationAdd BLAST284
Alternative sequenceiVSP_013284361 – 401Missing in isoform 3. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_001399861 – 879Missing in isoform 2. 3 PublicationsAdd BLAST19

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69263 mRNA. Translation: AAC51260.2.
AY358895 mRNA. Translation: AAQ89254.1.
AL137638 mRNA. Translation: CAB70853.2.
AK289721 mRNA. Translation: BAF82410.1.
AL833931 mRNA. Translation: CAD38787.1. Different initiation.
AP002906 Genomic DNA. No translation available.
AP003352 Genomic DNA. No translation available.
BC010444 mRNA. Translation: AAH10444.1.
BC016394 mRNA. Translation: AAH16394.1.
CCDSiCCDS55264.1. [O00339-1]
CCDS55265.1. [O00339-2]
CCDS83309.1. [O00339-3]
RefSeqiNP_001304677.1. NM_001317748.1. [O00339-3]
NP_002371.3. NM_002380.4. [O00339-1]
NP_085072.2. NM_030583.3. [O00339-2]
UniGeneiHs.189445.
Hs.737531.

Genome annotation databases

EnsembliENST00000254898; ENSP00000254898; ENSG00000132561. [O00339-1]
ENST00000520016; ENSP00000430487; ENSG00000132561. [O00339-1]
ENST00000521689; ENSP00000429977; ENSG00000132561. [O00339-2]
ENST00000522025; ENSP00000429010; ENSG00000132561. [O00339-4]
ENST00000524308; ENSP00000430221; ENSG00000132561. [O00339-3]
GeneIDi4147.
KEGGihsa:4147.
UCSCiuc003yic.4. human. [O00339-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69263 mRNA. Translation: AAC51260.2.
AY358895 mRNA. Translation: AAQ89254.1.
AL137638 mRNA. Translation: CAB70853.2.
AK289721 mRNA. Translation: BAF82410.1.
AL833931 mRNA. Translation: CAD38787.1. Different initiation.
AP002906 Genomic DNA. No translation available.
AP003352 Genomic DNA. No translation available.
BC010444 mRNA. Translation: AAH10444.1.
BC016394 mRNA. Translation: AAH16394.1.
CCDSiCCDS55264.1. [O00339-1]
CCDS55265.1. [O00339-2]
CCDS83309.1. [O00339-3]
RefSeqiNP_001304677.1. NM_001317748.1. [O00339-3]
NP_002371.3. NM_002380.4. [O00339-1]
NP_085072.2. NM_030583.3. [O00339-2]
UniGeneiHs.189445.
Hs.737531.

3D structure databases

ProteinModelPortaliO00339.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110317. 14 interactors.
DIPiDIP-47267N.
IntActiO00339. 6 interactors.
STRINGi9606.ENSP00000430487.

PTM databases

iPTMnetiO00339.
PhosphoSitePlusiO00339.

Polymorphism and mutation databases

BioMutaiMATN2.

Proteomic databases

MaxQBiO00339.
PaxDbiO00339.
PeptideAtlasiO00339.
PRIDEiO00339.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254898; ENSP00000254898; ENSG00000132561. [O00339-1]
ENST00000520016; ENSP00000430487; ENSG00000132561. [O00339-1]
ENST00000521689; ENSP00000429977; ENSG00000132561. [O00339-2]
ENST00000522025; ENSP00000429010; ENSG00000132561. [O00339-4]
ENST00000524308; ENSP00000430221; ENSG00000132561. [O00339-3]
GeneIDi4147.
KEGGihsa:4147.
UCSCiuc003yic.4. human. [O00339-1]

Organism-specific databases

CTDi4147.
DisGeNETi4147.
GeneCardsiMATN2.
HGNCiHGNC:6908. MATN2.
HPAiCAB033879.
MIMi602108. gene.
neXtProtiNX_O00339.
OpenTargetsiENSG00000132561.
PharmGKBiPA30651.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR7H. Eukaryota.
ENOG410XSTY. LUCA.
GeneTreeiENSGT00760000119000.
HOVERGENiHBG056906.
InParanoidiO00339.
OMAiQCSEGFL.
OrthoDBiEOG091G02GA.
TreeFamiTF330078.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132561-MONOMER.

Miscellaneous databases

ChiTaRSiMATN2. human.
GeneWikiiMATN2.
GenomeRNAii4147.
PROiO00339.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132561.
CleanExiHS_MATN2.
ExpressionAtlasiO00339. baseline and differential.
GenevisibleiO00339. HS.

Family and domain databases

Gene3Di1.20.5.30. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR026823. cEGF.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR009030. Growth_fac_rcpt_.
IPR019466. Matrilin_coiled-coil_trimer.
IPR002035. VWF_A.
[Graphical view]
PfamiPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 3 hits.
PF10393. Matrilin_ccoil. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
SMARTiSM00181. EGF. 10 hits.
SM00179. EGF_CA. 10 hits.
SM01279. Matrilin_ccoil. 1 hit.
SM00327. VWA. 2 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 2 hits.
SSF57184. SSF57184. 3 hits.
PROSITEiPS00010. ASX_HYDROXYL. 9 hits.
PS01186. EGF_2. 9 hits.
PS50026. EGF_3. 4 hits.
PS50234. VWFA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMATN2_HUMAN
AccessioniPrimary (citable) accession number: O00339
Secondary accession number(s): A8K106
, E7EW74, E9PD48, E9PGL2, Q6UWA5, Q7Z5X1, Q8NDE6, Q96FT5, Q9NSZ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 28, 2011
Last modified: November 2, 2016
This is version 164 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.