SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q93063

- EXT2_HUMAN

UniProt

Q93063 - EXT2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Exostosin-2
Gene
EXT2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei26 – 4621Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini47 – 718672Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
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-2
PRO_0000149651Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

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

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.
VSP_046053
Alternative sequencei392 – 41120ARWFW…ALATL → LFMEPARRENWSAANHQMNS LIWPREQWDS in isoform 2.
VSP_001798Add
BLAST

Sequence conflict

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

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 144 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

Dasty 3

Similar proteinsi