Q6NVD0 (FREM2_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FRAS1-related extracellular matrix protein 2 Alternative name(s): ECM3 homolog NV domain-containing protein 1 | ||||
| Gene names |
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| Organism | Mus musculus (Mouse) [Reference proteome] | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus![]() |
Protein attributes
| Sequence length | 3160 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion. Ref.1 |
| Subcellular location | Cell membrane; Single-pass type I membrane protein; Extracellular side Potential. |
| Tissue specificity | First expressed from E10 in the mesodermal core of the branchial arches, developing lens, otic vesicle and limb apical ectodermal ridge. Later, it is expressed in the vibrissae and vibrissae pad, eyelids ear and pelage follicles and, at low levels, in the epidermis. Also expressed in caudal somites and, in later embryos, in facial, limb and intercostal muscles. In contrast to Frem1, it is not expressed in the developing mammary glands or in the caecum. Restricted to the epithelia in a pattern complementary to that of Frem1 (which is generally expressed in the dermis and mesenchyme). In the developing kidney, it is expressed At in the mesonephric and metanephric epithelia at E11.5, with a highest expression at the tips of the developing ureteric buds. At E12.5 and E13.5, it is still expressed throughout the epithelial components of the kidney, including epithelia fated to form nephrons, which are induced by the ureter tips to differentiate from the mesenchymal condensations that surround them. Ref.1 |
| Domain | The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding By similarity. |
| Disruption phenotype | Mice display cryptophthalmos, syndactyly and renal defects. Frem2 corresponds to the X-ray irradiated-induced allele 'myelencephalic blebs' (my). Ref.1 |
| Sequence similarities | Belongs to the FRAS1 family. Contains 5 Calx-beta domains. Contains 12 CSPG (NG2) repeats. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6NVD0-1) 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: Q6NVD0-2) The sequence of this isoform differs from the canonical sequence as follows: 1-2287: Missing. 2288-2297: SGEDYHPVSE → MVGPGNFRKR | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6NVD0-3) The sequence of this isoform differs from the canonical sequence as follows: 1-2851: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 39 | 39 | Potential | ||||||
| Chain | 40 – 3160 | 3121 | FRAS1-related extracellular matrix protein 2 | PRO_0000010125 | |||||
Regions | |||||||||
| Topological domain | 40 – 3105 | 3066 | Extracellular Potential | ||||||
| Transmembrane | 3106 – 3126 | 21 | Helical; Potential | ||||||
| Topological domain | 3127 – 3160 | 34 | Cytoplasmic Potential | ||||||
| Repeat | 291 – 412 | 122 | CSPG 1 | ||||||
| Repeat | 413 – 534 | 122 | CSPG 2 | ||||||
| Repeat | 535 – 670 | 136 | CSPG 3 | ||||||
| Repeat | 671 – 800 | 130 | CSPG 4 | ||||||
| Repeat | 801 – 910 | 110 | CSPG 5 | ||||||
| Repeat | 911 – 1041 | 131 | CSPG 6 | ||||||
| Repeat | 1042 – 1160 | 119 | CSPG 7 | ||||||
| Repeat | 1161 – 1273 | 113 | CSPG 8 | ||||||
| Repeat | 1274 – 1389 | 116 | CSPG 9 | ||||||
| Repeat | 1390 – 1503 | 114 | CSPG 10 | ||||||
| Repeat | 1504 – 1622 | 119 | CSPG 11 | ||||||
| Repeat | 1623 – 1747 | 125 | CSPG 12 | ||||||
| Domain | 1748 – 1847 | 100 | Calx-beta 1 | ||||||
| Domain | 1860 – 1971 | 112 | Calx-beta 2 | ||||||
| Domain | 1986 – 2092 | 107 | Calx-beta 3 | ||||||
| Domain | 2107 – 2209 | 103 | Calx-beta 4 | ||||||
| Domain | 2227 – 2331 | 105 | Calx-beta 5 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 351 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1233 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1358 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1573 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 1730 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 2851 | 2851 | Missing in isoform 3. | VSP_015037 | |||||
| Alternative sequence | 1 – 2287 | 2287 | Missing in isoform 2. | VSP_015038 | |||||
| Alternative sequence | 2288 – 2297 | 10 | SGEDYHPVSE → MVGPGNFRKR in isoform 2. | VSP_015039 | |||||
Experimental info | |||||||||
| Sequence conflict | 2437 | 1 | S → N in BAC27425. Ref.2 | ||||||
| Sequence conflict | 2851 | 1 | H → N in BAC27425. Ref.2 | ||||||
| Sequence conflict | 3031 | 1 | P → H in AAH46388. Ref.3 | ||||||
| Sequence conflict | 3040 | 1 | S → G in AAH46388. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs." Jadeja S., Smyth I., Pitera J.E., Taylor M.S., van Haelst M., Bentley E., McGregor L., Hopkins J., Chalepakis G., Philip N., Perez Aytes A., Watt F.M., Darling S.M., Jackson I., Woolf A.S., Scambler P.J. Nat. Genet. 37:520-525(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE. |
| [2] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Strain: C57BL/6J. Tissue: Cerebellum and Testis. |
| [3] | "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] OF 2277-3160. Strain: C57BL/6 and Czech II. Tissue: Head and Mammary tumor. |
| [4] | "QBRICK, a novel cell-adhesive protein expressed in the basement membrane of the developing hair follicle." Kiyozumi D., Osada A., Sugimoto N., Weber C.N., Ono Y., Imai T., Okada A., Sekiguchi K. Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-291. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ833643 mRNA. Translation: CAH55760.1. AK031494 mRNA. Translation: BAC27425.1. AK082256 mRNA. Translation: BAC38448.1. BC046388 mRNA. Translation: AAH46388.1. BC068185 mRNA. Translation: AAH68185.1. AB160988 mRNA. Translation: BAD89016.1. |
| IPI | IPI00469279. IPI00553703. IPI00648770. |
| RefSeq | NP_766450.2. NM_172862.3. |
| UniGene | Mm.38378. |
3D structure databases | |
| ProteinModelPortal | Q6NVD0. |
| SMR | Q6NVD0. Positions 1760-2378. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q6NVD0. |
Proteomic databases | |
| PaxDb | Q6NVD0. |
| PRIDE | Q6NVD0. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000091137; ENSMUSP00000088670; ENSMUSG00000037016. |
| GeneID | 242022. |
| KEGG | mmu:242022. |
| UCSC | uc008pex.1. mouse. uc008pey.1. mouse. |
Organism-specific databases | |
| CTD | 341640. |
| MGI | MGI:2444465. Frem2. |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| GeneTree | ENSGT00550000074429. |
| HOGENOM | HOG000007464. |
| HOVERGEN | HBG081537. |
| InParanoid | Q6NVD0. |
| OMA | EDSKFLD. |
| OrthoDB | EOG4WDD9T. |
Gene expression databases | |
| Bgee | Q6NVD0. |
| CleanEx | MM_FREM2. |
| Genevestigator | Q6NVD0. |
Family and domain databases | |
| InterPro | IPR002126. Cadherin. IPR003644. Calx_beta. [Graphical view] |
| Pfam | PF03160. Calx-beta. 5 hits. [Graphical view] |
| SMART | SM00112. CA. 1 hit. SM00237. Calx_beta. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 385204. |
| SOURCE | Search... |
Entry information
| Entry name | FREM2_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q6NVD0 Secondary accession number(s): Q4W2Q5 Q8CD46 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
