O00339 (MATN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 130.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Matrilin-2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 956 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in matrix assembly By similarity. |
| Subcellular location | |
| Post-translational modification | Phosphorylated upon DNA damage, probably by ATM or ATR. |
| Sequence similarities | Contains 10 EGF-like domains. Contains 2 VWFA domains. |
| Sequence caution | The sequence CAD38787.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil EGF-like domain Repeat Signal |
| PTM | Disulfide bond Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | axon guidance Inferred from electronic annotation. Source: Compara dendrite regenerationInferred from electronic annotation. Source: Compara glial cell migrationInferred from electronic annotation. Source: Compara neuron migrationInferred from electronic annotation. Source: Compara response to axon injuryInferred from electronic annotation. Source: Compara |
| Cellular_component | basement membrane Inferred from electronic annotation. Source: Compara proteinaceous extracellular matrixNon-traceable author statement Ref.1. Source: UniProtKB |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ATXN7 | O15265 | 2 | EBI-949020,EBI-708350 | |
| CACNA1A | O00555 | 2 | EBI-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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 23 | 23 | Potential | ||||||||
| Chain | 24 – 956 | 933 | Matrilin-2 | PRO_0000007655 | |||||||
Regions | |||||||||||
| Domain | 57 – 232 | 176 | VWFA 1 | ||||||||
| Domain | 238 – 278 | 41 | EGF-like 1 | ||||||||
| Domain | 279 – 319 | 41 | EGF-like 2 | ||||||||
| Domain | 320 – 360 | 41 | EGF-like 3 | ||||||||
| Domain | 361 – 401 | 41 | EGF-like 4 | ||||||||
| Domain | 402 – 442 | 41 | EGF-like 5 | ||||||||
| Domain | 443 – 483 | 41 | EGF-like 6 | ||||||||
| Domain | 484 – 524 | 41 | EGF-like 7 | ||||||||
| Domain | 525 – 565 | 41 | EGF-like 8 | ||||||||
| Domain | 566 – 606 | 41 | EGF-like 9 | ||||||||
| Domain | 607 – 647 | 41 | EGF-like 10 | ||||||||
| Domain | 655 – 830 | 176 | VWFA 2 | ||||||||
| Coiled coil | 917 – 955 | 39 | Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 221 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 242 ↔ 253 | By similarity | |||||||||
| Disulfide bond | 249 ↔ 262 | By similarity | |||||||||
| Disulfide bond | 264 ↔ 277 | By similarity | |||||||||
| Disulfide bond | 283 ↔ 294 | By similarity | |||||||||
| Disulfide bond | 290 ↔ 303 | By similarity | |||||||||
| Disulfide bond | 305 ↔ 318 | By similarity | |||||||||
| Disulfide bond | 324 ↔ 335 | By similarity | |||||||||
| Disulfide bond | 331 ↔ 344 | By similarity | |||||||||
| Disulfide bond | 346 ↔ 359 | By similarity | |||||||||
| Disulfide bond | 365 ↔ 376 | By similarity | |||||||||
| Disulfide bond | 372 ↔ 385 | By similarity | |||||||||
| Disulfide bond | 387 ↔ 400 | By similarity | |||||||||
| Disulfide bond | 406 ↔ 417 | By similarity | |||||||||
| Disulfide bond | 413 ↔ 426 | By similarity | |||||||||
| Disulfide bond | 428 ↔ 441 | By similarity | |||||||||
| Disulfide bond | 447 ↔ 458 | By similarity | |||||||||
| Disulfide bond | 454 ↔ 467 | By similarity | |||||||||
| Disulfide bond | 469 ↔ 482 | By similarity | |||||||||
| Disulfide bond | 488 ↔ 499 | By similarity | |||||||||
| Disulfide bond | 495 ↔ 508 | By similarity | |||||||||
| Disulfide bond | 510 ↔ 523 | By similarity | |||||||||
| Disulfide bond | 529 ↔ 540 | By similarity | |||||||||
| Disulfide bond | 536 ↔ 549 | By similarity | |||||||||
| Disulfide bond | 551 ↔ 564 | By similarity | |||||||||
| Disulfide bond | 570 ↔ 581 | By similarity | |||||||||
| Disulfide bond | 577 ↔ 590 | By similarity | |||||||||
| Disulfide bond | 592 ↔ 605 | By similarity | |||||||||
| Disulfide bond | 611 ↔ 622 | By similarity | |||||||||
| Disulfide bond | 618 ↔ 631 | By similarity | |||||||||
| Disulfide bond | 633 ↔ 646 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 284 | 284 | Missing in isoform 4. | VSP_014540 | |||||||
| Alternative sequence | 361 – 401 | 41 | Missing in isoform 3. | VSP_013284 | |||||||
| Alternative sequence | 861 – 879 | 19 | Missing in isoform 2. | VSP_001399 | |||||||
| Natural variant | 14 | 1 | G → A. Corresponds to variant rs35804177 [ dbSNP | Ensembl ]. | VAR_055753 | |||||||
| Natural variant | 187 | 1 | T → M. Ref.3 Corresponds to variant rs2290472 [ dbSNP | Ensembl ]. | VAR_055754 | |||||||
| Natural variant | 356 | 1 | K → E. Ref.4 Ref.6 Corresponds to variant rs1869609 [ dbSNP | Ensembl ]. | VAR_021568 | |||||||
| Natural variant | 599 | 1 | A → T. Corresponds to variant rs35120814 [ dbSNP | Ensembl ]. | VAR_055755 | |||||||
| Natural variant | 855 | 1 | T → M. Corresponds to variant rs2255317 [ dbSNP | Ensembl ]. | VAR_055756 | |||||||
| Natural variant | 932 | 1 | V → I. Corresponds to variant rs17831160 [ dbSNP | Ensembl ]. | VAR_055757 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 58 | 1 | L → P in BAF82410. Ref.3 | ||||||||
| Sequence conflict | 594 | 1 | E → V in AAC51260. Ref.1 | ||||||||
| Sequence conflict | 644 | 1 | R → G no nucleotide entry Ref.7 | ||||||||
| Sequence conflict | 755 | 1 | L → F in AAC51260. Ref.1 | ||||||||
| Sequence conflict | 890 | 1 | N → D in BAF82410. Ref.3 | ||||||||
| Sequence conflict | 935 | 1 | L → F no nucleotide entry Ref.7 | ||||||||
Sequences
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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. 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. 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. 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. |
| IPI | IPI00168520. IPI00473118. IPI00607598. IPI00981431. |
| RefSeq | NP_002371.3. NM_002380.3. NP_085072.2. NM_030583.2. |
| UniGene | Hs.189445. |
3D structure databases | |
| ProteinModelPortal | O00339. |
| SMR | O00339. Positions 57-647, 654-834. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-47267N. |
| IntAct | O00339. 5 interactions. |
| STRING | 9606.ENSP00000254898. |
PTM databases | |
| PhosphoSite | O00339. |
Proteomic databases | |
| PaxDb | O00339. |
| PRIDE | O00339. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000520016; ENSP00000430487; ENSG00000132561. ENST00000521689; ENSP00000429977; ENSG00000132561. ENST00000522025; ENSP00000429010; ENSG00000132561. ENST00000524308; ENSP00000430221; ENSG00000132561. |
| GeneID | 4147. |
| KEGG | hsa:4147. |
| UCSC | uc003yic.3. human. uc003yid.3. human. uc010mbh.1. human. |
Organism-specific databases | |
| CTD | 4147. |
| GeneCards | GC08P098881. |
| HGNC | HGNC:6908. MATN2. |
| HPA | CAB033879. |
| MIM | 602108. gene. |
| neXtProt | NX_O00339. |
| PharmGKB | PA30651. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG297993. |
| HOVERGEN | HBG056906. |
| InParanoid | O00339. |
Gene expression databases | |
| ArrayExpress | O00339. |
| Bgee | O00339. |
| CleanEx | HS_MATN2. |
| Genevestigator | O00339. |
| GermOnline | ENSG00000132561. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.20.5.30. 1 hit. |
| InterPro | 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. [Graphical view] |
| Pfam | PF00008. EGF. 1 hit. PF07645. EGF_CA. 5 hits. PF10393. Matrilin_ccoil. 1 hit. PF00092. VWA. 2 hits. [Graphical view] |
| SMART | SM00181. EGF. 9 hits. SM00179. EGF_CA. 1 hit. SM00327. VWA. 2 hits. [Graphical view] |
| PROSITE | PS00010. ASX_HYDROXYL. 9 hits. PS01186. EGF_2. 9 hits. PS50026. EGF_3. 4 hits. PS50234. VWFA. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MATN2. human. |
| GenomeRNAi | 4147. |
| NextBio | 16292. |
| SOURCE | Search... |
Entry information
| Entry name | MATN2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00339 Secondary accession number(s): A8K106 Q9NSZ1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
