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O00339 (MATN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Matrilin-2
Gene names
Name:MATN2
ORF Names:UNQ193/PRO219
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length956 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in matrix assembly By similarity.

Subcellular location

Secreted.

Sequence similarities

Contains 10 EGF-like domains.

Contains 2 VWFA domains.

Sequence caution

The sequence CAD38787.1 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ATXN7O152652EBI-949020,EBI-708350
CACNA1AO005552EBI-949020,EBI-766279

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00339-1)

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.
Isoform 2 (identifier: O00339-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     861-879: Missing.
Isoform 3 (identifier: O00339-3)

The sequence of this isoform differs from the canonical sequence as follows:
     361-401: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O00339-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-284: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 956933Matrilin-2
PRO_0000007655

Regions

Domain57 – 232176VWFA 1
Domain238 – 27841EGF-like 1
Domain279 – 31941EGF-like 2
Domain320 – 36041EGF-like 3
Domain361 – 40141EGF-like 4
Domain402 – 44241EGF-like 5
Domain443 – 48341EGF-like 6
Domain484 – 52441EGF-like 7
Domain525 – 56541EGF-like 8
Domain566 – 60641EGF-like 9
Domain607 – 64741EGF-like 10
Domain655 – 830176VWFA 2
Coiled coil917 – 95539 Potential

Amino acid modifications

Glycosylation2211N-linked (GlcNAc...) Potential
Disulfide bond242 ↔ 253 By similarity
Disulfide bond249 ↔ 262 By similarity
Disulfide bond264 ↔ 277 By similarity
Disulfide bond283 ↔ 294 By similarity
Disulfide bond290 ↔ 303 By similarity
Disulfide bond305 ↔ 318 By similarity
Disulfide bond324 ↔ 335 By similarity
Disulfide bond331 ↔ 344 By similarity
Disulfide bond346 ↔ 359 By similarity
Disulfide bond365 ↔ 376 By similarity
Disulfide bond372 ↔ 385 By similarity
Disulfide bond387 ↔ 400 By similarity
Disulfide bond406 ↔ 417 By similarity
Disulfide bond413 ↔ 426 By similarity
Disulfide bond428 ↔ 441 By similarity
Disulfide bond447 ↔ 458 By similarity
Disulfide bond454 ↔ 467 By similarity
Disulfide bond469 ↔ 482 By similarity
Disulfide bond488 ↔ 499 By similarity
Disulfide bond495 ↔ 508 By similarity
Disulfide bond510 ↔ 523 By similarity
Disulfide bond529 ↔ 540 By similarity
Disulfide bond536 ↔ 549 By similarity
Disulfide bond551 ↔ 564 By similarity
Disulfide bond570 ↔ 581 By similarity
Disulfide bond577 ↔ 590 By similarity
Disulfide bond592 ↔ 605 By similarity
Disulfide bond611 ↔ 622 By similarity
Disulfide bond618 ↔ 631 By similarity
Disulfide bond633 ↔ 646 By similarity

Natural variations

Alternative sequence1 – 284284Missing in isoform 4.
VSP_014540
Alternative sequence361 – 40141Missing in isoform 3.
VSP_013284
Alternative sequence861 – 87919Missing in isoform 2.
VSP_001399
Natural variant141G → A.
Corresponds to variant rs35804177 [ dbSNP | Ensembl ].
VAR_055753
Natural variant1871T → M. Ref.3
Corresponds to variant rs2290472 [ dbSNP | Ensembl ].
VAR_055754
Natural variant3561K → E. Ref.4 Ref.6
Corresponds to variant rs1869609 [ dbSNP | Ensembl ].
VAR_021568
Natural variant5991A → T.
Corresponds to variant rs35120814 [ dbSNP | Ensembl ].
VAR_055755
Natural variant8551T → M.
Corresponds to variant rs2255317 [ dbSNP | Ensembl ].
VAR_055756
Natural variant9321V → I.
Corresponds to variant rs17831160 [ dbSNP | Ensembl ].
VAR_055757

Experimental info

Sequence conflict581L → P in BAF82410. Ref.3
Sequence conflict5941E → V in AAC51260. Ref.1
Sequence conflict6441R → G no nucleotide entry Ref.7
Sequence conflict7551L → F in AAC51260. Ref.1
Sequence conflict8901N → D in BAF82410. Ref.3
Sequence conflict9351L → F no nucleotide entry Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified June 28, 2011. Version 4.
Checksum: D0868FBF62744EF2

FASTA956106,837
        10         20         30         40         50         60 
MEKMLAGCFL LILGQIVLLP AEARERSRGR SISRGRHART HPQTALLESS CENKRADLVF 

        70         80         90        100        110        120 
IIDSSRSVNT HDYAKVKEFI VDILQFLDIG PDVTRVGLLQ YGSTVKNEFS LKTFKRKSEV 

       130        140        150        160        170        180 
ERAVKRMRHL STGTMTGLAI QYALNIAFSE AEGARPLREN VPRVIMIVTD GRPQDSVAEV 

       190        200        210        220        230        240 
AAKARDTGIL IFAIGVGQVD FNTLKSIGSE PHEDHVFLVA NFSQIETLTS VFQKKLCTAH 

       250        260        270        280        290        300 
MCSTLEHNCA HFCINIPGSY VCRCKQGYIL NSDQTTCRIQ DLCAMEDHNC EQLCVNVPGS 

       310        320        330        340        350        360 
FVCQCYSGYA LAEDGKRCVA VDYCASENHG CEHECVNADG SYLCQCHEGF ALNPDKKTCT 

       370        380        390        400        410        420 
KIDYCASSNH GCQHECVNTD DSYSCHCLKG FTLNPDKKTC RRINYCALNK PGCEHECVNM 

       430        440        450        460        470        480 
EESYYCRCHR GYTLDPNGKT CSRVDHCAQQ DHGCEQLCLN TEDSFVCQCS EGFLINEDLK 

       490        500        510        520        530        540 
TCSRVDYCLL SDHGCEYSCV NMDRSFACQC PEGHVLRSDG KTCAKLDSCA LGDHGCEHSC 

       550        560        570        580        590        600 
VSSEDSFVCQ CFEGYILRED GKTCRRKDVC QAIDHGCEHI CVNSDDSYTC ECLEGFRLAE 

       610        620        630        640        650        660 
DGKRCRRKDV CKSTHHGCEH ICVNNGNSYI CKCSEGFVLA EDGRRCKKCT EGPIDLVFVI 

       670        680        690        700        710        720 
DGSKSLGEEN FEVVKQFVTG IIDSLTISPK AARVGLLQYS TQVHTEFTLR NFNSAKDMKK 

       730        740        750        760        770        780 
AVAHMKYMGK GSMTGLALKH MFERSFTQGE GARPLSTRVP RAAIVFTDGR AQDDVSEWAS 

       790        800        810        820        830        840 
KAKANGITMY AVGVGKAIEE ELQEIASEPT NKHLFYAEDF STMDEISEKL KKGICEALED 

       850        860        870        880        890        900 
SDGRQDSPAG ELPKTVQQPT ESEPVTINIQ DLLSCSNFAV QHRYLFEEDN LLRSTQKLSH 

       910        920        930        940        950 
STKPSGSPLE EKHDQCKCEN LIMFQNLANE EVRKLTQRLE EMTQRMEALE NRLRYR 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 14FB20A486F3B9F0
Show »

FASTA937104,775
Isoform 3 [UniParc].

Checksum: B8C245C6EA17CDC1
Show »

FASTA915102,232
Isoform 4 [UniParc].

Checksum: 933562EE766C3EC6
Show »

FASTA67275,251

References

« Hide 'large scale' references
[1]"Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes."
Muratoglu S., Krysan K., Balazs M., Sheng H., Zakany R., Modis L., Kiss I., Deak F.
Cytogenet. Cell Genet. 90:323-327(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-187.
Tissue: Brain.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT GLU-356.
Tissue: Testis.
[5]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 242-956 (ISOFORM 1), VARIANT GLU-356.
Tissue: Brain and Ovary.
[7]"Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily."
Deak F., Piecha D., Bachrati C., Paulsson M., Kiss I.
J. Biol. Chem. 272:9268-9274(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 644-956.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_002371.3. NM_002380.3.
NP_085072.2. NM_030583.2.
UniGeneHs.189445.

3D structure databases

ProteinModelPortalO00339.
SMRO00339. Positions 57-647, 654-834, 907-953.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110317. 12 interactions.
DIPDIP-47267N.
IntActO00339. 5 interactions.
STRING9606.ENSP00000254898.

PTM databases

PhosphoSiteO00339.

Proteomic databases

PaxDbO00339.
PRIDEO00339.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000520016; ENSP00000430487; ENSG00000132561. [O00339-1]
ENST00000521689; ENSP00000429977; ENSG00000132561. [O00339-2]
ENST00000522025; ENSP00000429010; ENSG00000132561. [O00339-4]
ENST00000524308; ENSP00000430221; ENSG00000132561. [O00339-3]
GeneID4147.
KEGGhsa:4147.
UCSCuc003yic.3. human. [O00339-1]
uc003yid.3. human. [O00339-2]
uc010mbh.1. human. [O00339-3]

Organism-specific databases

CTD4147.
GeneCardsGC08P098881.
HGNCHGNC:6908. MATN2.
HPACAB033879.
MIM602108. gene.
neXtProtNX_O00339.
PharmGKBPA30651.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297993.
HOVERGENHBG056906.
InParanoidO00339.
OrthoDBEOG70GMF3.
TreeFamTF330078.

Gene expression databases

ArrayExpressO00339.
BgeeO00339.
CleanExHS_MATN2.
GenevestigatorO00339.

Family and domain databases

Gene3D1.20.5.30. 1 hit.
3.40.50.410. 2 hits.
InterProIPR026823. cEGF.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR009030. Growth_fac_rcpt_N_dom.
IPR019466. Matrilin_coiled-coil_trimer.
IPR002035. VWF_A.
[Graphical view]
PfamPF12662. cEGF. 1 hit.
PF07645. EGF_CA. 1 hit.
PF10393. Matrilin_ccoil. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
SMARTSM00181. EGF. 9 hits.
SM00179. EGF_CA. 1 hit.
SM00327. VWA. 2 hits.
[Graphical view]
SUPFAMSSF53300. SSF53300. 2 hits.
SSF57184. SSF57184. 3 hits.
PROSITEPS00010. ASX_HYDROXYL. 9 hits.
PS01186. EGF_2. 9 hits.
PS50026. EGF_3. 4 hits.
PS50234. VWFA. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMATN2. human.
GeneWikiMATN2.
GenomeRNAi4147.
NextBio16292.
PROO00339.
SOURCESearch...

Entry information

Entry nameMATN2_HUMAN
AccessionPrimary (citable) accession number: O00339
Secondary accession number(s): A8K106 expand/collapse secondary AC list , E7EW74, E9PD48, E9PGL2, Q6UWA5, Q7Z5X1, Q8NDE6, Q96FT5, Q9NSZ1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 28, 2011
Last modified: April 16, 2014
This is version 139 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM