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Q5SZK8

- FREM2_HUMAN

UniProt

Q5SZK8 - FREM2_HUMAN

Protein

FRAS1-related extracellular matrix protein 2

Gene

FREM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (16 Aug 2005)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. cell communication Source: InterPro
    2. homophilic cell adhesion Source: InterPro
    3. inner ear development Source: Ensembl
    4. morphogenesis of an epithelium Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Cell adhesion

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    FRAS1-related extracellular matrix protein 2
    Alternative name(s):
    ECM3 homolog
    Gene namesi
    Name:FREM2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:25396. FREM2.

    Subcellular locationi

    GO - Cellular componenti

    1. basement membrane Source: Ensembl
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1972 – 19721E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication
    VAR_023201

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi219000. phenotype.
    Orphaneti2052. Fraser syndrome.
    PharmGKBiPA134930862.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4646Sequence AnalysisAdd
    BLAST
    Chaini47 – 31693123FRAS1-related extracellular matrix protein 2PRO_0000010124Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi358 – 3581N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1244 – 12441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1369 – 13691N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1584 – 15841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1741 – 17411N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ5SZK8.
    PaxDbiQ5SZK8.
    PRIDEiQ5SZK8.

    PTM databases

    PhosphoSiteiQ5SZK8.

    Expressioni

    Gene expression databases

    BgeeiQ5SZK8.
    CleanExiHS_FREM2.
    GenevestigatoriQ5SZK8.

    Organism-specific databases

    HPAiHPA028831.

    Interactioni

    Protein-protein interaction databases

    BioGridi131147. 2 interactions.
    STRINGi9606.ENSP00000280481.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5SZK8.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini47 – 31133067ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini3135 – 316935CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei3114 – 313421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati298 – 419122CSPG 1Add
    BLAST
    Repeati420 – 541122CSPG 2Add
    BLAST
    Repeati542 – 681140CSPG 3Add
    BLAST
    Repeati682 – 811130CSPG 4Add
    BLAST
    Repeati812 – 921110CSPG 5Add
    BLAST
    Repeati922 – 1052131CSPG 6Add
    BLAST
    Repeati1053 – 1171119CSPG 7Add
    BLAST
    Repeati1172 – 1284113CSPG 8Add
    BLAST
    Repeati1285 – 1400116CSPG 9Add
    BLAST
    Repeati1401 – 1514114CSPG 10Add
    BLAST
    Repeati1515 – 1633119CSPG 11Add
    BLAST
    Repeati1634 – 1758125CSPG 12Add
    BLAST
    Domaini1759 – 1858100Calx-beta 1Add
    BLAST
    Domaini1871 – 1982112Calx-beta 2Add
    BLAST
    Domaini1997 – 2103107Calx-beta 3Add
    BLAST
    Domaini2118 – 2220103Calx-beta 4Add
    BLAST
    Domaini2238 – 2342105Calx-beta 5Add
    BLAST

    Domaini

    The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon binding.By similarity

    Sequence similaritiesi

    Belongs to the FRAS1 family.Curated
    Contains 5 Calx-beta domains.Curated
    Contains 12 CSPG (NG2) repeats.Curated

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG081537.
    InParanoidiQ5SZK8.
    OMAiEDSKFLD.
    OrthoDBiEOG751NDJ.
    PhylomeDBiQ5SZK8.
    TreeFamiTF316876.

    Family and domain databases

    InterProiIPR002126. Cadherin.
    IPR003644. Calx_beta.
    [Graphical view]
    PfamiPF03160. Calx-beta. 5 hits.
    [Graphical view]
    SMARTiSM00112. CA. 1 hit.
    SM00237. Calx_beta. 5 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5SZK8-1) [UniParc]FASTAAdd to Basket

    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

    MHSAGTPGLS SRRTGNSTSF QPGPPPPPRL LLLLLLLLSL VSRVPAQPAA     50
    FGRALLSPGL AGAAGVPAEE AIVLANRGLR VPFGREVWLD PLHDLVLQVQ 100
    PGDRCAVSVL DNDALAQRPG RLSPKRFPCD FGPGEVRYSH LGARSPSRDR 150
    VRLQLRYDAP GGAVVLPLVL EVEVVFTQLE VVTRNLPLVV EELLGTSNAL 200
    DARSLEFAFQ PETEECRVGI LSGLGALPRY GELLHYPQVP GGAREGGAPE 250
    TLLMDCKAFQ ELGVRYRHTA ASRSPNRDWI PMVVELRSRG APVGSPALKR 300
    EHFQVLVRIR GGAENTAPKP SFVAMMMMEV DQFVLTALTP DMLAAEDAES 350
    PSDLLIFNLT SPFQPGQGYL VSTDDRSLPL SSFTQRDLRL LKIAYQPPSE 400
    DSDQERLFEL ELEVVDLEGA ASDPFAFMVV VKPMNTMAPV VTRNTGLILY 450
    EGQSRPLTGP AGSGPQNLVI SDEDDLEAVR LEVVAGLRHG HLVILGASSG 500
    SSAPKSFTVA ELAAGQVVYQ HDDRDGSLSD NLVLRMVDGG GRHQVQFLFP 550
    ITLVPVDDQP PVLNANTGLT LAEGETVPIL PLSLSATDMD SDDSLLLFVL 600
    ESPFLTTGHL LLRQTHPPHE KQELLRGLWR KEGAFYERTV TEWQQQDITE 650
    GRLFYRHSGP HSPGPVTDQF TFRVQDNHDP PNQSGLQRFV IRIHPVDRLP 700
    PELGSGCPLR MVVQESQLTP LRKKWLRYTD LDTDDRELRY TVTQSPTDTD 750
    ENHLPAPLGT LVLTDNPSVV VTHFTQAQIN HHKIAYRPPG QELGVATRVA 800
    QFQFQVEDRA GNVAPGTFTL YLHPVDNQPP EILNTGFTIQ EKGHHILSET 850
    ELHVNDVDTD VAHISFTLTQ APKHGHMRVS GQILHVGGLF HLEDIKQGRV 900
    SYAHNGDKSL TDSCSLEVSD RHHVVPITLR VNVRPVDDEV PILSHPTGTL 950
    ESYLDVLENG ATEITANVIK GTNEETDDLM LTFLLEDPPL YGEILVNGIP 1000
    AEQFTQRDIL EGSVVYTHTS GEIGLLPKAD SFNLSLSDMS QEWRIGGNTI 1050
    QGVTIWVTIL PVDSQAPEIF VGEQLIVMEG DKSVITSVHI SAEDVDSLND 1100
    DILCTIVIQP TSGYVENISP APGSEKSRAG IAISAFNLKD LRQGHINYVQ 1150
    SVHKGVEPVE DRFVFRCSDG INFSERQFFP IVIIPTNDEQ PEMFMREFMV 1200
    MEGMSLVIDT PILNAADADV PLDDLTFTIT QFPTHGHIMN QLINGTVLVE 1250
    SFTLDQIIES SSIIYEHDDS ETQEDSFVIK LTDGKHSVEK TVLIIVIPVD 1300
    DETPRMTINN GLEIEIGDTK IINNKILMAT DLDSEDKSLV YIIRYGPGHG 1350
    LLQRRKPTGA FENITLGMNF TQDEVDRNLI QYVHLGQEGI RDLIKFDVTD 1400
    GINPLIDRYF YVSIGSIDIV FPDVISKGVS LKEGGKVTLT TDLLSTSDLN 1450
    SPDENLVFTI TRAPMRGHLE CTDQPGVSIT SFTQLQLAGN KIYYIHTADD 1500
    EVKMDSFEFQ VTDGRNPVFR TFRISISDVD NKKPVVTIHK LVVSESENKL 1550
    ITPFELTVED RDTPDKLLKF TITQVPIHGH LLFNNTRPVM VFTKQDLNEN 1600
    LISYKHDGTE SSEDSFSFTV TDGTHTDFYV FPDTVFETRR PQVMKIQVLA 1650
    VDNSVPQIAV NKGASTLRTL ATGHLGFMIT SKILKVEDRD SLHISLRFIV 1700
    TEAPQHGYLL NLDKGNHSIT QFTQADIDDM KICYVLREGA NATSDMFYFA 1750
    VEDGGGNKLT YQNFRLNWAW ISFEKEYYLV NEDSKFLDVV LKRRGYLGET 1800
    SFISIGTRDR TAEKDKDFKG KAQKQVQFNP GQTRATWRVR ILSDGEHEQS 1850
    ETFQVVLSEP VLAALEFPTV ATVEIVDPGD EPTVFIPQSK YSVEEDVGEL 1900
    FIPIRRSGDV SQELMVVCYT QQGTATGTVP TSVLSYSDYI SRPEDHTSVV 1950
    RFDKDEREKL CRIVIIDDSL YEEEETFHVL LSMPMGGRIG SEFPGAQVTI 2000
    VPDKDDEPIF YFGDVEYSVD ESAGYVEVQV WRTGTDLSKS SSVTVRSRKT 2050
    DPPSADAGTD YVGISRNLDF APGVNMQPVR VVILDDLGQP ALEGIEKFEL 2100
    VLRMPMNAAL GEPSKATVSI NDSVSDLPKM QFKERIYTGS ESDGQIVTMI 2150
    HRTGDVQYRS SVRCYTRQGS AQVMMDFEER PNTDTSIITF LPGETEKPCI 2200
    LELMDDVLYE EVEELRLVLG TPQSNSPFGA AVGEQNETLI RIRDDADKTV 2250
    IKFGETKFSV TEPKEPGESV VIRIPVIRQG DTSKVSIVRV HTKDGSATSG 2300
    EDYHPVSEEI EFKEGETQHV VEIEVTFDGV REMREAFTVH LKPDENMIAE 2350
    MQLTKAIVYI EEMSSMADVT FPSVPQIVSL LMYDDTSKAK ESAEPMSGYP 2400
    VICITACNPK YSDYDKTGSI CASENINDTL TRYRWLISAP AGPDGVTSPM 2450
    REVDFDTFFT SSKMVTLDSI YFQPGSRVQC AARAVNTNGD EGLELMSPIV 2500
    TISREEGLCQ PRVPGVVGAE PFSAKLRYTG PEDADYTNLI KLTVTMPHID 2550
    GMLPVISTRE LSNFELTLSP DGTRVGNHKC SNLLDYTEVK THYGFLTDAT 2600
    KNPEIIGETY PYQYSLSIRG STTLRFYRNL NLEACLWEFV SYYDMSELLA 2650
    DCGGTIGTDG QVLNLVQSYV TLRVPLYVSY VFHSPVGVGG WQHFDLKSEL 2700
    RLTFVYDTAI LWNDGIGSPP EAELQGSLYP TSMRIGDEGR LAVHFKTEAQ 2750
    FHGLFVLSHP ASFTSSVIMS ADHPGLTFSL RLIRSEPTYN QPVQQWSFVS 2800
    DFAVRDYSGT YTVKLVPCTA PSHQEYRLPV TCNPREPVTF DLDIRFQQVS 2850
    DPVAAEFSLN TQMYLLSKKS LWLSDGSMGF GQESDVAFAE GDIIYGRVMV 2900
    DPVQNLGDSF YCSIEKVFLC TGADGYVPKY SPMNAEYGCL ADSPSLLYRF 2950
    KIVDKAQPET QATSFGNVLF NAKLAVDDPE AILLVNQPGS DGFKVDSTPL 3000
    FQVALGREWY IHTIYTVRSK DNANRGIGKR SVEYHSLVSQ GKPQSTTKSR 3050
    KKREIRSTPS LAWEIGAENS RGTNIQHIAL DRTKRQIPHG RAPPDGILPW 3100
    ELNSPSSAVS LVTVVGGTTV GLLTICLTVI AVLMCRGKES FRGKDAPKGS 3150
    SSSEPMVPPQ SHHNDSSEV 3169
    Length:3,169
    Mass (Da):351,157
    Last modified:August 16, 2005 - v2
    Checksum:i4000FC02963417F7
    GO
    Isoform 2 (identifier: Q5SZK8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2663-2667: LNLVQ → QIYNI
         2668-3169: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,667
    Mass (Da):295,845
    Checksum:i9AD8ABD80F89E9F8
    GO

    Sequence cautioni

    The sequence BAC87040.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti2030 – 20301V → A in CAD98088. (PubMed:14702039)Curated
    Sequence conflicti2112 – 21121E → K in BAC87040. (PubMed:17974005)Curated
    Sequence conflicti2116 – 21161A → T in BAC87040. (PubMed:17974005)Curated
    Sequence conflicti2359 – 23591Y → H in CAD98088. (PubMed:14702039)Curated
    Sequence conflicti2508 – 25081L → P in BAC87040. (PubMed:17974005)Curated
    Sequence conflicti2638 – 26381E → K in BAC87040. (PubMed:17974005)Curated
    Sequence conflicti2682 – 26821F → I in CAD98088. (PubMed:14702039)Curated
    Sequence conflicti2777 – 27771T → S in CAI46253. (PubMed:14702039)Curated
    Sequence conflicti2786 – 27861E → G in CAD98036. (PubMed:14702039)Curated
    Sequence conflicti2968 – 29681V → I in CAD98088. (PubMed:14702039)Curated
    Sequence conflicti2968 – 29681V → I in CAE45813. (PubMed:14702039)Curated
    Sequence conflicti3081 – 30811D → G in CAD98088. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti722 – 7221R → K.
    Corresponds to variant rs58363253 [ dbSNP | Ensembl ].
    VAR_061174
    Natural varianti745 – 7451S → P.
    Corresponds to variant rs2496423 [ dbSNP | Ensembl ].
    VAR_061175
    Natural varianti770 – 7701V → M.
    Corresponds to variant rs7327915 [ dbSNP | Ensembl ].
    VAR_033933
    Natural varianti868 – 8681L → V.
    Corresponds to variant rs7329939 [ dbSNP | Ensembl ].
    VAR_033934
    Natural varianti1039 – 10391M → K.
    Corresponds to variant rs2496424 [ dbSNP | Ensembl ].
    VAR_033935
    Natural varianti1045 – 10451I → S.
    Corresponds to variant rs17058433 [ dbSNP | Ensembl ].
    VAR_037569
    Natural varianti1070 – 10701F → S.
    Corresponds to variant rs2496425 [ dbSNP | Ensembl ].
    VAR_033936
    Natural varianti1668 – 16681R → H.
    Corresponds to variant rs1868463 [ dbSNP | Ensembl ].
    VAR_037570
    Natural varianti1840 – 18401R → W.
    Corresponds to variant rs9603422 [ dbSNP | Ensembl ].
    VAR_033937
    Natural varianti1972 – 19721E → K in FRASS; may impair calcium-binding in the 2nd Calx-beta domain. 1 Publication
    VAR_023201
    Natural varianti2066 – 20661R → C.1 Publication
    Corresponds to variant rs9548505 [ dbSNP | Ensembl ].
    VAR_023202
    Natural varianti2153 – 21531T → S.1 Publication
    Corresponds to variant rs9548506 [ dbSNP | Ensembl ].
    VAR_023203
    Natural varianti2326 – 23261T → I.2 Publications
    Corresponds to variant rs9548509 [ dbSNP | Ensembl ].
    VAR_023204
    Natural varianti2962 – 29621A → V.
    Corresponds to variant rs7996253 [ dbSNP | Ensembl ].
    VAR_037571

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2663 – 26675LNLVQ → QIYNI in isoform 2. 1 PublicationVSP_015035
    Alternative sequencei2668 – 3169502Missing in isoform 2. 1 PublicationVSP_015036Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL354819, AC017111, AL590007 Genomic DNA. Translation: CAI16761.2.
    AL590007, AC017111, AL354819 Genomic DNA. Translation: CAI12790.2.
    AK127571 mRNA. Translation: BAC87040.1. Different initiation.
    BX538150 mRNA. Translation: CAD98036.1.
    BX538304 mRNA. Translation: CAD98088.1.
    BX640686 mRNA. Translation: CAE45813.1.
    CR933724 mRNA. Translation: CAI46253.1.
    BN000687 mRNA. Translation: CAH56764.1.
    CCDSiCCDS31960.1. [Q5SZK8-1]
    RefSeqiNP_997244.4. NM_207361.5.
    UniGeneiHs.253994.

    Genome annotation databases

    EnsembliENST00000280481; ENSP00000280481; ENSG00000150893. [Q5SZK8-1]
    GeneIDi341640.
    KEGGihsa:341640.
    UCSCiuc001uwv.3. human. [Q5SZK8-1]

    Polymorphism databases

    DMDMi73620903.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL354819 , AC017111 , AL590007 Genomic DNA. Translation: CAI16761.2 .
    AL590007 , AC017111 , AL354819 Genomic DNA. Translation: CAI12790.2 .
    AK127571 mRNA. Translation: BAC87040.1 . Different initiation.
    BX538150 mRNA. Translation: CAD98036.1 .
    BX538304 mRNA. Translation: CAD98088.1 .
    BX640686 mRNA. Translation: CAE45813.1 .
    CR933724 mRNA. Translation: CAI46253.1 .
    BN000687 mRNA. Translation: CAH56764.1 .
    CCDSi CCDS31960.1. [Q5SZK8-1 ]
    RefSeqi NP_997244.4. NM_207361.5.
    UniGenei Hs.253994.

    3D structure databases

    ProteinModelPortali Q5SZK8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131147. 2 interactions.
    STRINGi 9606.ENSP00000280481.

    PTM databases

    PhosphoSitei Q5SZK8.

    Polymorphism databases

    DMDMi 73620903.

    Proteomic databases

    MaxQBi Q5SZK8.
    PaxDbi Q5SZK8.
    PRIDEi Q5SZK8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000280481 ; ENSP00000280481 ; ENSG00000150893 . [Q5SZK8-1 ]
    GeneIDi 341640.
    KEGGi hsa:341640.
    UCSCi uc001uwv.3. human. [Q5SZK8-1 ]

    Organism-specific databases

    CTDi 341640.
    GeneCardsi GC13P039261.
    H-InvDB HIX0026558.
    HGNCi HGNC:25396. FREM2.
    HPAi HPA028831.
    MIMi 219000. phenotype.
    608945. gene.
    neXtProti NX_Q5SZK8.
    Orphaneti 2052. Fraser syndrome.
    PharmGKBi PA134930862.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOVERGENi HBG081537.
    InParanoidi Q5SZK8.
    OMAi EDSKFLD.
    OrthoDBi EOG751NDJ.
    PhylomeDBi Q5SZK8.
    TreeFami TF316876.

    Miscellaneous databases

    ChiTaRSi FREM2. human.
    GeneWikii FREM2.
    GenomeRNAii 341640.
    NextBioi 98177.
    PROi Q5SZK8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5SZK8.
    CleanExi HS_FREM2.
    Genevestigatori Q5SZK8.

    Family and domain databases

    InterProi IPR002126. Cadherin.
    IPR003644. Calx_beta.
    [Graphical view ]
    Pfami PF03160. Calx-beta. 5 hits.
    [Graphical view ]
    SMARTi SM00112. CA. 1 hit.
    SM00237. Calx_beta. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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.
      , 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] OF 1817-3169 (ISOFORM 2), VARIANT ILE-2326.
      Tissue: Tongue.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1910-3169 (ISOFORM 1), VARIANTS CYS-2066; SER-2153 AND ILE-2326.
      Tissue: Fetal kidney.
    4. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1741.
      Tissue: Plasma.
    5. Cited for: IDENTIFICATION (ISOFORM 1), FUNCTION, VARIANT FRASS LYS-1972.

    Entry informationi

    Entry nameiFREM2_HUMAN
    AccessioniPrimary (citable) accession number: Q5SZK8
    Secondary accession number(s): Q4QQG1
    , Q5H9N8, Q5T6Q1, Q6N057, Q6ZSB4, Q7Z305, Q7Z341
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: August 16, 2005
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 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 13
      Human chromosome 13: 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

    External Data

    Dasty 3