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Q6NVD0 (FREM2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FRAS1-related extracellular matrix protein 2
Alternative name(s):
ECM3 homolog
NV domain-containing protein 1
Gene names
Name:Frem2
Synonyms:Nv1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length3160 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3939 Potential
Chain40 – 31603121FRAS1-related extracellular matrix protein 2
PRO_0000010125

Regions

Topological domain40 – 31053066Extracellular Potential
Transmembrane3106 – 312621Helical; Potential
Topological domain3127 – 316034Cytoplasmic Potential
Repeat291 – 412122CSPG 1
Repeat413 – 534122CSPG 2
Repeat535 – 670136CSPG 3
Repeat671 – 800130CSPG 4
Repeat801 – 910110CSPG 5
Repeat911 – 1041131CSPG 6
Repeat1042 – 1160119CSPG 7
Repeat1161 – 1273113CSPG 8
Repeat1274 – 1389116CSPG 9
Repeat1390 – 1503114CSPG 10
Repeat1504 – 1622119CSPG 11
Repeat1623 – 1747125CSPG 12
Domain1748 – 1847100Calx-beta 1
Domain1860 – 1971112Calx-beta 2
Domain1986 – 2092107Calx-beta 3
Domain2107 – 2209103Calx-beta 4
Domain2227 – 2331105Calx-beta 5

Amino acid modifications

Glycosylation3511N-linked (GlcNAc...) Potential
Glycosylation12331N-linked (GlcNAc...) Potential
Glycosylation13581N-linked (GlcNAc...) Potential
Glycosylation15731N-linked (GlcNAc...) Potential
Glycosylation17301N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 28512851Missing in isoform 3.
VSP_015037
Alternative sequence1 – 22872287Missing in isoform 2.
VSP_015038
Alternative sequence2288 – 229710SGEDYHPVSE → MVGPGNFRKR in isoform 2.
VSP_015039

Experimental info

Sequence conflict24371S → N in BAC27425. Ref.2
Sequence conflict28511H → N in BAC27425. Ref.2
Sequence conflict30311P → H in AAH46388. Ref.3
Sequence conflict30401S → G in AAH46388. Ref.3

Sequences

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

Last modified August 16, 2005. Version 2.
Checksum: 579F20BD79957E06

FASTA3,160350,640
        10         20         30         40         50         60 
MASRARRTAK FSSFQPILAQ SPRLLLLLLL LSLVSYVSTQ AAGPGAALQS LGLSGTSGVP 

        70         80         90        100        110        120 
TEEAIVVANR GLRVPFGREV WLDPLRDLVL QVQPGDRCTV TVLDNDALAQ RPGHLSPKRF 

       130        140        150        160        170        180 
ACDYGPGEVR YSHLGARSPS RDRVRLQLRY DAPGGAIVLP LALEVEVVFT QLEIVTRNLP 

       190        200        210        220        230        240 
LVVEELLGTS NALDDRSLEF AYQPETEECR VGILSGLSAL PRYGELLHYP QVQGGAGDRG 

       250        260        270        280        290        300 
TSKTLLMDCK AFQELGVRYR HTAPSRSPNR DWLPMVVELH SRGAPEGSPA LKREHFQVLV 

       310        320        330        340        350        360 
RIRGGAENTA PKPSFVAMMM MEVDQFVLTA LTPDMLAAED AESDPDLLIF NLTSAFQPGQ 

       370        380        390        400        410        420 
GYLVSTDDRS LPLSSFTQRD LRLLKIAYQP PSEDSDQERL FELELEIVDP EGAASDPFAF 

       430        440        450        460        470        480 
MVVVKPMNTL APVVTRNTGL ILYEGQYRPL TGPIGSGPQN LVISDEDDLE AVRLEVVAGL 

       490        500        510        520        530        540 
RHGHLVILGS PSSDSAPKTF TVAELAAGQV VYQHDDKDGS LSDNLVLRMS DGGGRHQVQF 

       550        560        570        580        590        600 
LFPITLVPVD DQPPVLNANT GLTVAEGETV PIPPLTLSAT DIDSDDSQLV FVLLPPFSSL 

       610        620        630        640        650        660 
GHLLLRQRHV PQEEQGLWQK QGSFYERTVT EWRQQDITEG KLFYRHSGPH SPGPVMDQFM 

       670        680        690        700        710        720 
FRVQDNHDPP NQSGIQRFVI RIHPVDRLPP ELGSGCPLRM VVQESQLTPL RKRWLHYTDL 

       730        740        750        760        770        780 
DTDDRELQYT VTQPPTDTDE NHSPAPLGTL VFTDNPSVVV SHFTQAQVNH HKIAYRPPGQ 

       790        800        810        820        830        840 
ELGVAARVAQ FQFQVEDRAG NVAPGTFTLY LQPVDNQPPE IVNTGFTVEE KGHHILRETE 

       850        860        870        880        890        900 
LHVSDVDTDV THISFTLTQA PKHGHMQISG RPLHVGGQFH LEDIKHGRIS YWNSGDESLT 

       910        920        930        940        950        960 
DSCSLEVSDR HHVVPITLRV NVRPGDREGP MSVLPAGTLE SYLDVLENGA TEVTANIIKG 

       970        980        990       1000       1010       1020 
AYQGTDDLML TFLLEGPPSY GEILVNGAPA EQFTQRDILE GSVVYAHTSG EIGLLPKADS 

      1030       1040       1050       1060       1070       1080 
FNLSLSAMSQ EWRIGSSIVQ GVTVWVTILP VDSQAPEISL GEQFVVLEGD KSVISLTHLS 

      1090       1100       1110       1120       1130       1140 
AEDMDSLKDD LLCTIVIQPT SGYVENISPA PGSEKSRAGV AISAFTLKDL RQGHINYVQS 

      1150       1160       1170       1180       1190       1200 
VHRGVEPVED RFIFRCSDGI NFSERQIFPI VIIPTNDEQP EMFMREFMVM EGMSLVVNRL 

      1210       1220       1230       1240       1250       1260 
ILNAADADIP RDDLTFTITR FPTHGHVMNQ LINGTVLVES FTLDQIIESS SIIYEHDDSE 

      1270       1280       1290       1300       1310       1320 
TQEDSFVIKL TDGKHSVEKM VLIVVIPVDD ETPRMTINNG LEIEIGETKV INNKVLMATD 

      1330       1340       1350       1360       1370       1380 
LDSDDKSLVY IIRYGPGHGL LQRQKPLGAF ENITLGMNFT QDEVDRNLIQ YVHFGQEGIR 

      1390       1400       1410       1420       1430       1440 
DLIKFDVTDG TNALIDRYFY VTIGSVDIVF PDVVSKGVSL KEGGKVTLTT DLLSTSDLNS 

      1450       1460       1470       1480       1490       1500 
PDENLVFTIT RAPMRGHLEC TDRRGLSITS FTQLQLAGNK IYYIHTAEDE VKMDSFEFQV 

      1510       1520       1530       1540       1550       1560 
TDGRNPVFRT FRISISDVDN KKPVVTIHNL VVSESESKLI TPFELTVEDR DTPDRLLKFI 

      1570       1580       1590       1600       1610       1620 
VTQVPVHGHL LFNNTRSVMV FTKQDLNENL ISYKHDGTES TEDSFSFTVT DGTHSDFYVF 

      1630       1640       1650       1660       1670       1680 
PDTVFETRRP QVMKIQVLPV DNSVPQIVVN KGASTLRTLA TGHLGFMITS KILKVEDRDS 

      1690       1700       1710       1720       1730       1740 
LHFSLRFIVT EAPQHGYLLN LGQGNHSVTQ FTQADIDDMK ICYVLRERAN ATSDMFHFIV 

      1750       1760       1770       1780       1790       1800 
EDDGGNRLTN QHFRLNWAWI SFEKEYYLIN EDSKFLDIVL TRRGYLGETS FISIGTRDGT 

      1810       1820       1830       1840       1850       1860 
AEKDRDFKGK AQKQVQFNPG QTRASWRVRI LSDGEHEHSE TFQVVLSEPV LAILEFPTVT 

      1870       1880       1890       1900       1910       1920 
TVEIIDPGDE STVFIPQSEY SVEEDVGELF IPIRRSGDIS RELMVICYTQ QGTATSTVRT 

      1930       1940       1950       1960       1970       1980 
SVLSYSDYIS RPEDHSSVIR FDKDEREKMC RILVIDDSLY EEEETFQVLL SMPMGGRIGD 

      1990       2000       2010       2020       2030       2040 
KFPGANVTIL TDRDDEPAFY FGDTQYSVDE SAGYVELQVW RTGTDLSKPS SVTVRSRKTE 

      2050       2060       2070       2080       2090       2100 
SLSADAGTDY VGISRNLDFA PGVNMQTVRV VILDDLGRPI LEGIEKFELV LRMPMNAALG 

      2110       2120       2130       2140       2150       2160 
EPSKATVSIN DSASDLPKMQ FKERVYTCNE NDGRVVAMIY RSGDIQHRSS VRCYTRQGSA 

      2170       2180       2190       2200       2210       2220 
QVMMDFEERP NTDVSTVTFL PGEMEKPCVL ELMDDAVYED VEELRLVLGT PQGSSAFGAA 

      2230       2240       2250       2260       2270       2280 
VGEQNETLIK IQDEADKAVI KFGETKFSVT EPSRPGESVV VKIPVIRQGD TSKVSIVRVH 

      2290       2300       2310       2320       2330       2340 
TKDGSATSGE DYHPVSEEIE FKEGETQHTV EIEVIFDGVR EMREAFTVHL KPDENMVAET 

      2350       2360       2370       2380       2390       2400 
QATKAIVYIE EIHSMADVTF PSVPHIVSLL IYDDPSKGRE DTGPVSGYPV VCITACNPKY 

      2410       2420       2430       2440       2450       2460 
PDYEKTGSIC ASENINDTLT RYRWLISAPA GPDGVTSPMR EVDFDTFFTS SKMITLDSIY 

      2470       2480       2490       2500       2510       2520 
FQPGSRVQCA ARAVNTNGNE GLELMSPIVT IGREEGLCQP RVPGVVGAEP FSAKLRYTGP 

      2530       2540       2550       2560       2570       2580 
EDPDFANLIK LTVTMPHIDG MLPAISTREL SNFELTLSPD GTRVGNHKCS NLLDYNEVKT 

      2590       2600       2610       2620       2630       2640 
HHGFLTNATK NPEVIGETYP YQYSVPVRGS STLRFYRNLN LEACLWEFVS YYDMTELLAD 

      2650       2660       2670       2680       2690       2700 
CGGTIGTDGQ VLNLVQSYVT LRVPLYVSYV FHSPVGVGGW QHFDLKSELR LTFVYDTAIL 

      2710       2720       2730       2740       2750       2760 
WNHGIGSPPE AELQGSLYPT SMRIGEEGRL AVNFKTEAQF HGLFVLSHPA SFTSSLIVSA 

      2770       2780       2790       2800       2810       2820 
DHPGLTFSLR LIRSEPTYNQ PVQQWSFVSD FAVRDYSGTY TVKLVPCTTP SNQEYRLPVT 

      2830       2840       2850       2860       2870       2880 
CNPREPVTFD LDIRFQQVSD PVATEFSLNT HMYLLSKKNL WLSDGSMGFG QESDVAFAEG 

      2890       2900       2910       2920       2930       2940 
DVIYGRVMVD PVQNLGDSFY CSIEKVFLCT GDDGYVPKYS PANAEYGCLA DSPSLLHRFK 

      2950       2960       2970       2980       2990       3000 
IVDKAQPETQ ATSFGDVLFN AKLAVDDPEA VLLVNQPGSD GFKVDSTPLF QVALGREWYI 

      3010       3020       3030       3040       3050       3060 
HTIYTVKSKD NTHRGIGKRS LEYQYHSVVH PGPPQATTKS WKKRAVRSTP SLAGEIGAEN 

      3070       3080       3090       3100       3110       3120 
NRGTNIQHIS LNRRGKRQVP HGRIPPDGIL PWELNSPSSE VSLVTVLGGL TVGLLTVCLA 

      3130       3140       3150       3160 
VAAAVMCRNR STKGKDTPKG SGSTEPMMSP QSHYNDSSEV 

« Hide

Isoform 2 [UniParc].

Checksum: 198D3BE068E6C0DB
Show »

FASTA87396,504
Isoform 3 [UniParc].

Checksum: B0E805BEB9A456F1
Show »

FASTA30933,633

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. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai 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.
RefSeqNP_766450.2. NM_172862.3.
UniGeneMm.38378.

3D structure databases

ProteinModelPortalQ6NVD0.
SMRQ6NVD0. Positions 542-594, 672-733, 904-931, 1042-1086, 1151-1220, 1263-1342, 1383-1412, 1759-2392.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4997463.

PTM databases

PhosphoSiteQ6NVD0.

Proteomic databases

PaxDbQ6NVD0.
PRIDEQ6NVD0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000091137; ENSMUSP00000088670; ENSMUSG00000037016. [Q6NVD0-1]
GeneID242022.
KEGGmmu:242022.
UCSCuc008pex.1. mouse. [Q6NVD0-3]
uc008pey.1. mouse. [Q6NVD0-1]

Organism-specific databases

CTD341640.
MGIMGI:2444465. Frem2.

Phylogenomic databases

eggNOGNOG12793.
GeneTreeENSGT00550000074429.
HOGENOMHOG000007464.
HOVERGENHBG081537.
InParanoidQ6NVD0.
OMAEDSKFLD.
OrthoDBEOG751NDJ.
PhylomeDBQ6NVD0.
TreeFamTF316876.

Gene expression databases

BgeeQ6NVD0.
CleanExMM_FREM2.
GenevestigatorQ6NVD0.

Family and domain databases

InterProIPR002126. Cadherin.
IPR003644. Calx_beta.
[Graphical view]
PfamPF03160. Calx-beta. 5 hits.
[Graphical view]
SMARTSM00112. CA. 1 hit.
SM00237. Calx_beta. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio385204.
PROQ6NVD0.
SOURCESearch...

Entry information

Entry nameFREM2_MOUSE
AccessionPrimary (citable) accession number: Q6NVD0
Secondary accession number(s): Q4W2Q5 expand/collapse secondary AC list , Q5H8C0, Q811G9, Q8C4G5, Q8CD46
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: April 16, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot