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Q93063

- EXT2_HUMAN

UniProt

Q93063 - EXT2_HUMAN

Protein

Exostosin-2

Gene

EXT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 1 (01 Feb 1997)
      Previous versions | rss
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    Functioni

    Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor.

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
    UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

    Pathwayi

    GO - Molecular functioni

    1. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB-EC
    2. glucuronosyltransferase activity Source: BHF-UCL
    3. heparan sulfate N-acetylglucosaminyltransferase activity Source: BHF-UCL
    4. N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: BHF-UCL
    5. protein heterodimerization activity Source: BHF-UCL
    6. transferase activity, transferring glycosyl groups Source: BHF-UCL

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cell differentiation Source: Ensembl
    3. cellular polysaccharide biosynthetic process Source: BHF-UCL
    4. glycosaminoglycan biosynthetic process Source: BHF-UCL
    5. glycosaminoglycan metabolic process Source: Reactome
    6. heparan sulfate proteoglycan biosynthetic process Source: BHF-UCL
    7. heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: BHF-UCL
    8. mesoderm formation Source: Ensembl
    9. ossification Source: BHF-UCL
    10. protein glycosylation Source: UniProtKB-UniPathway
    11. signal transduction Source: ProtInc
    12. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07726-MONOMER.
    ReactomeiREACT_121248. HS-GAG biosynthesis.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Exostosin-2 (EC:2.4.1.224, EC:2.4.1.225)
    Alternative name(s):
    Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Multiple exostoses protein 2
    Putative tumor suppressor protein EXT2
    Gene namesi
    Name:EXT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:3513. EXT2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication. Golgi apparatus membrane 1 Publication; Single-pass type II membrane protein 1 Publication
    Note: The EXT1/EXT2 complex is localized in the Golgi apparatus.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: BHF-UCL
    2. endoplasmic reticulum membrane Source: ProtInc
    3. extracellular vesicular exosome Source: UniProt
    4. Golgi apparatus Source: BHF-UCL
    5. Golgi membrane Source: Reactome
    6. integral component of membrane Source: UniProtKB-KW
    7. intrinsic component of endoplasmic reticulum membrane Source: InterPro
    8. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851C → R in EXT2. 1 Publication
    VAR_012823
    Natural varianti152 – 1521L → R in EXT2. 1 Publication
    VAR_012824
    Natural varianti179 – 1791R → S in EXT2. 1 Publication
    VAR_012825
    Natural varianti202 – 2021A → V in EXT2. 1 Publication
    VAR_012826
    Natural varianti223 – 2231R → P in EXT2. 1 Publication
    VAR_012827
    Natural varianti227 – 2271D → N in EXT2; can still form an oligomeric complex. 3 Publications
    VAR_002378
    Natural varianti380 – 3801I → T in EXT2. 1 Publication
    VAR_012828
    Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
    Note: The gene represented in this entry is involved in disease pathogenesis.

    Keywords - Diseasei

    Disease mutation, Hereditary multiple exostoses, Tumor suppressor

    Organism-specific databases

    MIMi133701. phenotype.
    601224. phenotype.
    Orphaneti321. Multiple osteochondromas.
    52022. Potocki-Shaffer syndrome.
    PharmGKBiPA27925.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 718718Exostosin-2PRO_0000149651Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi288 – 2881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi637 – 6371N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ93063.
    PaxDbiQ93063.
    PRIDEiQ93063.

    PTM databases

    PhosphoSiteiQ93063.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ93063.
    BgeeiQ93063.
    CleanExiHS_EXT2.
    GenevestigatoriQ93063.

    Organism-specific databases

    HPAiHPA051715.

    Interactioni

    Subunit structurei

    Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5.2 Publications

    Protein-protein interaction databases

    BioGridi108433. 23 interactions.
    IntActiQ93063. 8 interactions.
    MINTiMINT-120303.
    STRINGi9606.ENSP00000342656.

    Structurei

    3D structure databases

    ProteinModelPortaliQ93063.
    SMRiQ93063. Positions 456-690.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 718672LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 47 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG272619.
    HOGENOMiHOG000266990.
    HOVERGENiHBG101211.
    KOiK02367.
    OMAiQFGYEVW.
    OrthoDBiEOG789C9T.
    PhylomeDBiQ93063.
    TreeFamiTF314231.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004263. Exostosin.
    IPR027673. Exostosin-2.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF6. PTHR11062:SF6. 1 hit.
    PfamiPF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q93063-1) [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

    MCASVKYNIR GPALIPRMKT KHRIYYITLF SIVLLGLIAT GMFQFWPHSI    50
    ESSNDWNVEK RSIRDVPVVR LPADSPIPER GDLSCRMHTC FDVYRCGFNP 100
    KNKIKVYIYA LKKYVDDFGV SVSNTISREY NELLMAISDS DYYTDDINRA 150
    CLFVPSIDVL NQNTLRIKET AQAMAQLSRW DRGTNHLLFN MLPGGPPDYN 200
    TALDVPRDRA LLAGGGFSTW TYRQGYDVSI PVYSPLSAEV DLPEKGPGPR 250
    QYFLLSSQVG LHPEYREDLE ALQVKHGESV LVLDKCTNLS EGVLSVRKRC 300
    HKHQVFDYPQ VLQEATFCVV LRGARLGQAV LSDVLQAGCV PVVIADSYIL 350
    PFSEVLDWKR ASVVVPEEKM SDVYSILQSI PQRQIEEMQR QARWFWEAYF 400
    QSIKAIALAT LQIINDRIYP YAAISYEEWN DPPAVKWGSV SNPLFLPLIP 450
    PQSQGFTAIV LTYDRVESLF RVITEVSKVP SLSKLLVVWN NQNKNPPEDS 500
    LWPKIRVPLK VVRTAENKLS NRFFPYDEIE TEAVLAIDDD IIMLTSDELQ 550
    FGYEVWREFP DRLVGYPGRL HLWDHEMNKW KYESEWTNEV SMVLTGAAFY 600
    HKYFNYLYTY KMPGDIKNWV DAHMNCEDIA MNFLVANVTG KAVIKVTPRK 650
    KFKCPECTAI DGLSLDQTHM VERSECINKF ASVFGTMPLK VVEHRADPVL 700
    YKDDFPEKLK SFPNIGSL 718
    Length:718
    Mass (Da):82,255
    Last modified:February 1, 1997 - v1
    Checksum:i9048CD3A5B63C5CB
    GO
    Isoform 2 (identifier: Q93063-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         392-411: ARWFWEAYFQSIKAIALATL → LFMEPARRENWSAANHQMNSLIWPREQWDS

    Show »
    Length:728
    Mass (Da):83,570
    Checksum:i5CF31DFAB03E4023
    GO
    Isoform 3 (identifier: Q93063-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MSCASGSGGGLRHPLRCQKPWDEECEEEAVCVIM

    Note: No experimental confirmation available.

    Show »
    Length:751
    Mass (Da):85,815
    Checksum:iFB2DA6738A36F4B8
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti322 – 3221R → H in BX648142. (PubMed:14702039)Curated
    Sequence conflicti568 – 5681G → D in AAB62718. 1 PublicationCurated
    Isoform 2 (identifier: Q93063-2)
    Sequence conflicti397 – 3971A → V in AAB62718. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421M → V.
    Corresponds to variant rs4755779 [ dbSNP | Ensembl ].
    VAR_033921
    Natural varianti85 – 851C → R in EXT2. 1 Publication
    VAR_012823
    Natural varianti152 – 1521L → R in EXT2. 1 Publication
    VAR_012824
    Natural varianti179 – 1791R → S in EXT2. 1 Publication
    VAR_012825
    Natural varianti202 – 2021A → V in EXT2. 1 Publication
    VAR_012826
    Natural varianti223 – 2231R → P in EXT2. 1 Publication
    VAR_012827
    Natural varianti227 – 2271D → N in EXT2; can still form an oligomeric complex. 3 Publications
    VAR_002378
    Natural varianti380 – 3801I → T in EXT2. 1 Publication
    VAR_012828
    Natural varianti576 – 5761E → K in osteochondroma. 1 Publication
    VAR_012829

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MSCASGSGGGLRHPLRCQKP WDEECEEEAVCVIM in isoform 3. 1 PublicationVSP_046053
    Alternative sequencei392 – 41120ARWFW…ALATL → LFMEPARRENWSAANHQMNS LIWPREQWDS in isoform 2. CuratedVSP_001798Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U62740 mRNA. Translation: AAB07008.1.
    U64511 mRNA. Translation: AAC50764.1.
    U67368
    , U67356, U67357, U67358, U67360, U67361, U67362, U67363, U67364, U67365, U67366, U67367 Genomic DNA. Translation: AAC51219.1.
    U72263 mRNA. Translation: AAB62718.1.
    AK312375 mRNA. Translation: BAG35293.1.
    BX648142 mRNA. No translation available.
    AC068457 Genomic DNA. No translation available.
    AC103854 Genomic DNA. No translation available.
    AC134775 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68068.1.
    CH471064 Genomic DNA. Translation: EAW68070.1.
    CH471064 Genomic DNA. Translation: EAW68071.1.
    BC010058 mRNA. Translation: AAH10058.1.
    CCDSiCCDS53618.1. [Q93063-3]
    CCDS53619.1. [Q93063-2]
    CCDS7908.1. [Q93063-1]
    RefSeqiNP_000392.3. NM_000401.3. [Q93063-3]
    NP_001171554.1. NM_001178083.1. [Q93063-2]
    NP_997005.1. NM_207122.1. [Q93063-1]
    UniGeneiHs.368404.

    Genome annotation databases

    EnsembliENST00000343631; ENSP00000342656; ENSG00000151348. [Q93063-1]
    ENST00000358681; ENSP00000351509; ENSG00000151348. [Q93063-2]
    ENST00000395673; ENSP00000379032; ENSG00000151348. [Q93063-3]
    ENST00000533608; ENSP00000431173; ENSG00000151348. [Q93063-1]
    GeneIDi2132.
    KEGGihsa:2132.
    UCSCiuc001mxz.3. human. [Q93063-1]
    uc001mya.3. human.
    uc009ykt.3. human. [Q93063-2]

    Polymorphism databases

    DMDMi3023739.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U62740 mRNA. Translation: AAB07008.1 .
    U64511 mRNA. Translation: AAC50764.1 .
    U67368
    , U67356 , U67357 , U67358 , U67360 , U67361 , U67362 , U67363 , U67364 , U67365 , U67366 , U67367 Genomic DNA. Translation: AAC51219.1 .
    U72263 mRNA. Translation: AAB62718.1 .
    AK312375 mRNA. Translation: BAG35293.1 .
    BX648142 mRNA. No translation available.
    AC068457 Genomic DNA. No translation available.
    AC103854 Genomic DNA. No translation available.
    AC134775 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68068.1 .
    CH471064 Genomic DNA. Translation: EAW68070.1 .
    CH471064 Genomic DNA. Translation: EAW68071.1 .
    BC010058 mRNA. Translation: AAH10058.1 .
    CCDSi CCDS53618.1. [Q93063-3 ]
    CCDS53619.1. [Q93063-2 ]
    CCDS7908.1. [Q93063-1 ]
    RefSeqi NP_000392.3. NM_000401.3. [Q93063-3 ]
    NP_001171554.1. NM_001178083.1. [Q93063-2 ]
    NP_997005.1. NM_207122.1. [Q93063-1 ]
    UniGenei Hs.368404.

    3D structure databases

    ProteinModelPortali Q93063.
    SMRi Q93063. Positions 456-690.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108433. 23 interactions.
    IntActi Q93063. 8 interactions.
    MINTi MINT-120303.
    STRINGi 9606.ENSP00000342656.

    Protein family/group databases

    CAZyi GT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    PTM databases

    PhosphoSitei Q93063.

    Polymorphism databases

    DMDMi 3023739.

    Proteomic databases

    MaxQBi Q93063.
    PaxDbi Q93063.
    PRIDEi Q93063.

    Protocols and materials databases

    DNASUi 2132.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343631 ; ENSP00000342656 ; ENSG00000151348 . [Q93063-1 ]
    ENST00000358681 ; ENSP00000351509 ; ENSG00000151348 . [Q93063-2 ]
    ENST00000395673 ; ENSP00000379032 ; ENSG00000151348 . [Q93063-3 ]
    ENST00000533608 ; ENSP00000431173 ; ENSG00000151348 . [Q93063-1 ]
    GeneIDi 2132.
    KEGGi hsa:2132.
    UCSCi uc001mxz.3. human. [Q93063-1 ]
    uc001mya.3. human.
    uc009ykt.3. human. [Q93063-2 ]

    Organism-specific databases

    CTDi 2132.
    GeneCardsi GC11P044117.
    GeneReviewsi EXT2.
    HGNCi HGNC:3513. EXT2.
    HPAi HPA051715.
    MIMi 133701. phenotype.
    601224. phenotype.
    608210. gene.
    neXtProti NX_Q93063.
    Orphaneti 321. Multiple osteochondromas.
    52022. Potocki-Shaffer syndrome.
    PharmGKBi PA27925.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272619.
    HOGENOMi HOG000266990.
    HOVERGENi HBG101211.
    KOi K02367.
    OMAi QFGYEVW.
    OrthoDBi EOG789C9T.
    PhylomeDBi Q93063.
    TreeFami TF314231.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS07726-MONOMER.
    Reactomei REACT_121248. HS-GAG biosynthesis.

    Miscellaneous databases

    ChiTaRSi EXT2. human.
    GeneWikii EXT2_(gene).
    GenomeRNAii 2132.
    NextBioi 35535198.
    PROi Q93063.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q93063.
    Bgeei Q93063.
    CleanExi HS_EXT2.
    Genevestigatori Q93063.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004263. Exostosin.
    IPR027673. Exostosin-2.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF6. PTHR11062:SF6. 1 hit.
    Pfami PF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes."
      Stickens D.J., Clines G., Burbee D.G., Ramos P., Thomas S., Hogue D., Hecht J.T., Lovett M., Evans G.A.
      Nat. Genet. 14:25-32(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans."
      Clines G.A., Ashley J.A., Shah S., Lovett M.
      Genome Res. 7:359-367(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    4. "Molecular cloning of a candidate gene for hereditary multiple exostoses type II."
      Deng H.-X., Fan C., Xia J.H., Xu L., He X.X., Ruan Q.G., Yang Y., Huang L.
      Prog. Nat. Sci. 6:692-699(1996)
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
    5. "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] (ISOFORM 1).
      Tissue: Amygdala.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Endometrial cancer.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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].
      Tissue: Ovary.
    10. "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus."
      Kobayashi S., Morimoto K., Shimizu T., Takahashi M., Kurosawa H., Shirasawa T.
      Biochem. Biophys. Res. Commun. 268:860-867(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, SUBCELLULAR LOCATION.
    11. "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses."
      Simmons A.D., Musy M.M., Lopes C.S., Hwang L.-Y., Yang Y.-P., Lovett M.
      Hum. Mol. Genet. 8:2155-2164(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GALNT5.
    12. "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."
      Wuyts W., Van Hul W.
      Hum. Mutat. 15:220-227(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    13. "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses."
      Philippe C., Porter D.E., Emerton M.E., Wells D.E., Simpson A.H.R.W., Monaco A.P.
      Am. J. Hum. Genet. 61:520-528(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 ASN-227.
    14. "Mutation analysis of hereditary multiple exostoses in the Chinese."
      Xu L., Xia J., Jiang H., Zhou J., Li H., Wang D., Pan Q., Long Z., Fan C., Deng H.-X.
      Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 ARG-152, ALTERNATIVE SPLICING.
    15. "Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses."
      Park K.J., Shin K.-H., Ku J.-L., Cho T.-J., Lee S.H., Choi I.H., Philippe C., Monaco A.P., Porter D.E., Park J.-G.
      J. Hum. Genet. 44:230-234(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 ARG-85.
    16. "An R223P mutation in EXT2 gene causes hereditary multiple exostoses."
      Shi Y.-R., Wu J.-Y., Tsai F.-J., Lee C.-C., Tsai C.-H.
      Hum. Mutat. 15:390-391(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 PRO-223.
    17. "Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses."
      Seki H., Kubota T., Ikegawa S., Haga N., Fujioka F., Ohzeki S., Wakui K., Yoshikawa H., Takaoka K., Fukushima Y.
      Am. J. Med. Genet. 99:59-62(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 VAL-202.
    18. "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes."
      Bernard M.A., Hall C.E., Hogue D.A., Cole W.G., Scott A., Snuggs M.B., Clines G.A., Luedecke H.-J., Lovett M., Van Winkle W.B., Hecht J.T.
      Cell Motil. Cytoskeleton 48:149-162(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT2 ASN-227.
    19. Cited for: VARIANT EXT2 THR-380, VARIANT OSTEOCHONDROMA LYS-576.
    20. Cited for: VARIANTS EXT2 SER-179 AND ASN-227.

    Entry informationi

    Entry nameiEXT2_HUMAN
    AccessioniPrimary (citable) accession number: Q93063
    Secondary accession number(s): B2R5Z6
    , C9JU51, J3KPT2, O15288
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: February 1, 1997
    Last modified: October 1, 2014
    This is version 145 of the entry and version 1 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 11
      Human chromosome 11: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

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