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P78314

- 3BP2_HUMAN

UniProt

P78314 - 3BP2_HUMAN

Protein

SH3 domain-binding protein 2

Gene

SH3BP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    Functioni

    Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. SH3/SH2 adaptor activity Source: ProtInc

    GO - Biological processi

    1. positive regulation of signal transduction Source: GOC
    2. signal transduction Source: ProtInc

    Enzyme and pathway databases

    SignaLinkiP78314.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SH3 domain-binding protein 2
    Short name:
    3BP-2
    Gene namesi
    Name:SH3BP2
    Synonyms:3BP2
    ORF Names:RES4-23
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:10825. SH3BP2.

    Pathology & Biotechi

    Involvement in diseasei

    Cherubism (CRBM) [MIM:118400]: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti415 – 4151R → P in CRBM. 1 Publication
    VAR_013257
    Natural varianti415 – 4151R → Q in CRBM. 1 Publication
    VAR_013258
    Natural varianti418 – 4181P → H in CRBM. 1 Publication
    VAR_013259
    Natural varianti418 – 4181P → L in CRBM. 1 Publication
    VAR_013260
    Natural varianti418 – 4181P → R in CRBM. 2 Publications
    VAR_013261
    Natural varianti420 – 4201G → E in CRBM. 1 Publication
    Corresponds to variant rs28938171 [ dbSNP | Ensembl ].
    VAR_013262
    Natural varianti420 – 4201G → R in CRBM. 2 Publications
    Corresponds to variant rs28938170 [ dbSNP | Ensembl ].
    VAR_013263

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi118400. phenotype.
    Orphaneti184. Cherubism.
    PharmGKBiPA35733.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 561561SH3 domain-binding protein 2PRO_0000064365Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei174 – 1741Phosphotyrosine; by SYKBy similarity
    Modified residuei183 – 1831Phosphotyrosine; by SYKBy similarity
    Modified residuei278 – 2781Phosphoserine1 Publication
    Modified residuei448 – 4481Phosphotyrosine; by SYKBy similarity

    Post-translational modificationi

    Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP78314.
    PaxDbiP78314.
    PRIDEiP78314.

    PTM databases

    PhosphoSiteiP78314.

    Expressioni

    Tissue specificityi

    Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiP78314.
    BgeeiP78314.
    CleanExiHS_SH3BP2.
    GenevestigatoriP78314.

    Organism-specific databases

    HPAiHPA036790.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DBNLQ9UJU67EBI-727062,EBI-751783
    KITP107213EBI-727062,EBI-1379503
    SH3KBP1Q96B978EBI-727062,EBI-346595
    TNKS2Q9H2K25EBI-727062,EBI-4398527
    VAV1P154988EBI-727062,EBI-625518
    VAV2P527354EBI-727062,EBI-297549

    Protein-protein interaction databases

    BioGridi112350. 17 interactions.
    IntActiP78314. 19 interactions.
    MINTiMINT-254189.
    STRINGi9606.ENSP00000348685.

    Structurei

    Secondary structure

    1
    561
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni455 – 4573
    Helixi464 – 47411
    Beta strandi485 – 4895
    Beta strandi496 – 5016
    Turni503 – 5053
    Beta strandi506 – 5083
    Beta strandi514 – 5163
    Beta strandi519 – 5257
    Beta strandi527 – 5304
    Helixi531 – 5388
    Beta strandi544 – 5485
    Beta strandi553 – 5564

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2CR4NMR-A446-558[»]
    3TWRX-ray1.55E/F/G/H410-425[»]
    ProteinModelPortaliP78314.
    SMRiP78314. Positions 27-122, 444-560.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP78314.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini26 – 130105PHPROSITE-ProRule annotationAdd
    BLAST
    Domaini457 – 55599SH2PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi201 – 21010SH3-binding

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi205 – 2128Poly-Pro
    Compositional biasi236 – 2405Poly-Pro

    Sequence similaritiesi

    Contains 1 PH domain.PROSITE-ProRule annotation
    Contains 1 SH2 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH2 domain, SH3-binding

    Phylogenomic databases

    eggNOGiNOG42035.
    HOVERGENiHBG000016.
    InParanoidiP78314.
    KOiK07984.
    OMAiDFPRRER.
    OrthoDBiEOG7DRJ2X.
    PhylomeDBiP78314.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    3.30.505.10. 1 hit.
    InterProiIPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000980. SH2.
    [Graphical view]
    PfamiPF00169. PH. 1 hit.
    PF00017. SH2. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    SM00252. SH2. 1 hit.
    [Graphical view]
    SUPFAMiSSF55550. SSF55550. 1 hit.
    PROSITEiPS50003. PH_DOMAIN. 1 hit.
    PS50001. SH2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P78314-1) [UniParc]FASTAAdd to Basket

    Also known as: Long

    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

    MAAEEMHWPV PMKAIGAQNL LTMPGGVAKA GYLHKKGGTQ LQLLKWPLRF    50
    VIIHKRCVYY FKSSTSASPQ GAFSLSGYNR VMRAAEETTS NNVFPFKIIH 100
    ISKKHRTWFF SASSEEERKS WMALLRREIG HFHEKKDLPL DTSDSSSDTD 150
    SFYGAVERPV DISLSPYPTD NEDYEHDDED DSYLEPDSPE PGRLEDALMH 200
    PPAYPPPPVP TPRKPAFSDM PRAHSFTSKG PGPLLPPPPP KHGLPDVGLA 250
    AEDSKRDPLC PRRAEPCPRV PATPRRMSDP PLSTMPTAPG LRKPPCFRES 300
    ASPSPEPWTP GHGACSTSSA AIMATATSRN CDKLKSFHLS PRGPPTSEPP 350
    PVPANKPKFL KIAEEDPPRE AAMPGLFVPP VAPRPPALKL PVPEAMARPA 400
    VLPRPEKPQL PHLQRSPPDG QSFRSFSFEK PRQPSQADTG GDDSDEDYEK 450
    VPLPNSVFVN TTESCEVERL FKATSPRGEP QDGLYCIRNS STKSGKVLVV 500
    WDETSNKVRN YRIFEKDSKF YLEGEVLFVS VGSMVEHYHT HVLPSHQSLL 550
    LRHPYGYTGP R 561
    Length:561
    Mass (Da):62,244
    Last modified:July 15, 1998 - v2
    Checksum:i69E6846A4F6D8F15
    GO
    Isoform 2 (identifier: P78314-2) [UniParc]FASTAAdd to Basket

    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         81-97: VMRAAEETTSNNVFPFK → QPRPQPAQALSQTEAGP
         98-561: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:97
    Mass (Da):10,624
    Checksum:i58CB0FBE9EB3A7FF
    GO
    Isoform 3 (identifier: P78314-3) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:589
    Mass (Da):65,305
    Checksum:iB41A1B1688245A77
    GO
    Isoform 4 (identifier: P78314-4) [UniParc]FASTAAdd to Basket

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

    Note: No experimental confirmation available.

    Show »
    Length:618
    Mass (Da):68,129
    Checksum:i4A1A055BBB057AD9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti27 – 271V → L in AAB59973. (PubMed:9734812)Curated
    Sequence conflicti224 – 2241H → N in AAB59973. (PubMed:9734812)Curated
    Sequence conflicti249 – 2491L → R in AAB59973. (PubMed:9734812)Curated
    Sequence conflicti251 – 2511A → P in AAB59973. (PubMed:9734812)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti415 – 4151R → P in CRBM. 1 Publication
    VAR_013257
    Natural varianti415 – 4151R → Q in CRBM. 1 Publication
    VAR_013258
    Natural varianti418 – 4181P → H in CRBM. 1 Publication
    VAR_013259
    Natural varianti418 – 4181P → L in CRBM. 1 Publication
    VAR_013260
    Natural varianti418 – 4181P → R in CRBM. 2 Publications
    VAR_013261
    Natural varianti420 – 4201G → E in CRBM. 1 Publication
    Corresponds to variant rs28938171 [ dbSNP | Ensembl ].
    VAR_013262
    Natural varianti420 – 4201G → R in CRBM. 2 Publications
    Corresponds to variant rs28938170 [ dbSNP | Ensembl ].
    VAR_013263

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MASLGPRTPAPSRSRGRRAM CWVSTISFM in isoform 3. 1 PublicationVSP_043636
    Alternative sequencei1 – 11M → MAGSGPRPRSWGRREAGARD EAAAAGGRGPGPCRCSQGRR AWIAPGKPAMPAAWTPFM in isoform 4. CuratedVSP_055046
    Alternative sequencei81 – 9717VMRAA…VFPFK → QPRPQPAQALSQTEAGP in isoform 2. 2 PublicationsVSP_004085Add
    BLAST
    Alternative sequencei98 – 561464Missing in isoform 2. 2 PublicationsVSP_004086Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000936 mRNA. Translation: AAB59973.1.
    U56386 mRNA. Translation: AAB72034.1.
    AB000462 mRNA. Translation: BAA19119.1.
    AB000463 mRNA. Translation: BAA19120.1.
    AK299996 mRNA. Translation: BAG61816.1.
    AK312286 mRNA. Translation: BAG35213.1.
    AL121750 Genomic DNA. No translation available.
    CH471131 Genomic DNA. Translation: EAW82509.1.
    CH471131 Genomic DNA. Translation: EAW82510.1.
    CH471131 Genomic DNA. Translation: EAW82511.1.
    CH471131 Genomic DNA. Translation: EAW82512.1.
    BC022996 mRNA. Translation: AAH22996.1.
    CCDSiCCDS33944.1. [P78314-1]
    CCDS54715.1. [P78314-3]
    CCDS54716.1. [P78314-4]
    RefSeqiNP_001116153.1. NM_001122681.1. [P78314-1]
    NP_001139327.1. NM_001145855.1. [P78314-3]
    NP_001139328.1. NM_001145856.1.
    NP_003014.3. NM_003023.4. [P78314-1]
    XP_005248056.1. XM_005247999.2. [P78314-1]
    UniGeneiHs.167679.

    Genome annotation databases

    EnsembliENST00000356331; ENSP00000348685; ENSG00000087266. [P78314-1]
    ENST00000435136; ENSP00000403231; ENSG00000087266. [P78314-1]
    ENST00000442312; ENSP00000388152; ENSG00000087266. [P78314-3]
    ENST00000452765; ENSP00000409746; ENSG00000087266. [P78314-1]
    ENST00000503393; ENSP00000422168; ENSG00000087266. [P78314-4]
    ENST00000511747; ENSP00000424846; ENSG00000087266. [P78314-1]
    ENST00000513020; ENSP00000424072; ENSG00000087266. [P78314-2]
    ENST00000515737; ENSP00000422605; ENSG00000087266. [P78314-2]
    GeneIDi6452.
    KEGGihsa:6452.
    UCSCiuc003gfi.4. human. [P78314-1]
    uc011bvp.2. human. [P78314-3]

    Polymorphism databases

    DMDMi3023207.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF000936 mRNA. Translation: AAB59973.1 .
    U56386 mRNA. Translation: AAB72034.1 .
    AB000462 mRNA. Translation: BAA19119.1 .
    AB000463 mRNA. Translation: BAA19120.1 .
    AK299996 mRNA. Translation: BAG61816.1 .
    AK312286 mRNA. Translation: BAG35213.1 .
    AL121750 Genomic DNA. No translation available.
    CH471131 Genomic DNA. Translation: EAW82509.1 .
    CH471131 Genomic DNA. Translation: EAW82510.1 .
    CH471131 Genomic DNA. Translation: EAW82511.1 .
    CH471131 Genomic DNA. Translation: EAW82512.1 .
    BC022996 mRNA. Translation: AAH22996.1 .
    CCDSi CCDS33944.1. [P78314-1 ]
    CCDS54715.1. [P78314-3 ]
    CCDS54716.1. [P78314-4 ]
    RefSeqi NP_001116153.1. NM_001122681.1. [P78314-1 ]
    NP_001139327.1. NM_001145855.1. [P78314-3 ]
    NP_001139328.1. NM_001145856.1.
    NP_003014.3. NM_003023.4. [P78314-1 ]
    XP_005248056.1. XM_005247999.2. [P78314-1 ]
    UniGenei Hs.167679.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2CR4 NMR - A 446-558 [» ]
    3TWR X-ray 1.55 E/F/G/H 410-425 [» ]
    ProteinModelPortali P78314.
    SMRi P78314. Positions 27-122, 444-560.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112350. 17 interactions.
    IntActi P78314. 19 interactions.
    MINTi MINT-254189.
    STRINGi 9606.ENSP00000348685.

    PTM databases

    PhosphoSitei P78314.

    Polymorphism databases

    DMDMi 3023207.

    Proteomic databases

    MaxQBi P78314.
    PaxDbi P78314.
    PRIDEi P78314.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000356331 ; ENSP00000348685 ; ENSG00000087266 . [P78314-1 ]
    ENST00000435136 ; ENSP00000403231 ; ENSG00000087266 . [P78314-1 ]
    ENST00000442312 ; ENSP00000388152 ; ENSG00000087266 . [P78314-3 ]
    ENST00000452765 ; ENSP00000409746 ; ENSG00000087266 . [P78314-1 ]
    ENST00000503393 ; ENSP00000422168 ; ENSG00000087266 . [P78314-4 ]
    ENST00000511747 ; ENSP00000424846 ; ENSG00000087266 . [P78314-1 ]
    ENST00000513020 ; ENSP00000424072 ; ENSG00000087266 . [P78314-2 ]
    ENST00000515737 ; ENSP00000422605 ; ENSG00000087266 . [P78314-2 ]
    GeneIDi 6452.
    KEGGi hsa:6452.
    UCSCi uc003gfi.4. human. [P78314-1 ]
    uc011bvp.2. human. [P78314-3 ]

    Organism-specific databases

    CTDi 6452.
    GeneCardsi GC04P002831.
    GeneReviewsi SH3BP2.
    HGNCi HGNC:10825. SH3BP2.
    HPAi HPA036790.
    MIMi 118400. phenotype.
    602104. gene.
    neXtProti NX_P78314.
    Orphaneti 184. Cherubism.
    PharmGKBi PA35733.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42035.
    HOVERGENi HBG000016.
    InParanoidi P78314.
    KOi K07984.
    OMAi DFPRRER.
    OrthoDBi EOG7DRJ2X.
    PhylomeDBi P78314.

    Enzyme and pathway databases

    SignaLinki P78314.

    Miscellaneous databases

    ChiTaRSi SH3BP2. human.
    EvolutionaryTracei P78314.
    GenomeRNAii 6452.
    NextBioi 25079.
    PROi P78314.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78314.
    Bgeei P78314.
    CleanExi HS_SH3BP2.
    Genevestigatori P78314.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    3.30.505.10. 1 hit.
    InterProi IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR000980. SH2.
    [Graphical view ]
    Pfami PF00169. PH. 1 hit.
    PF00017. SH2. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    SM00252. SH2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55550. SSF55550. 1 hit.
    PROSITEi PS50003. PH_DOMAIN. 1 hit.
    PS50001. SH2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "3BP2 binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase c-FES to the cytoplasmic membrane in a phosphorylation dependent mechanism."
      Gokemeijer J., Deligiannidis K.E., Ligris K., Ernst T.J.
      Blood 88:473A-473A(1996)
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Tonsil.
    2. "Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer."
      Bell S.M., Shaw M., Jou Y.-S., Myers R.M., Knowles M.A.
      Genomics 44:163-170(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3."
      Hadano S., Ishida Y., Ikeda J.-E.
      DNA Res. 5:177-186(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
      Tissue: Brain.
    4. "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] (ISOFORMS 2 AND 3).
      Tissue: Cerebellum.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORM 1).
      Tissue: Cervix.
    8. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-278, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Solution structure of the SH2 domain of human SH3BP2 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 444-558.
    11. Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420.
    12. "Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism."
      Lo B., Faiyaz-Ul-Haque M., Kennedy S., Aviv R., Tsui L.-C., Teebi A.S.
      Am. J. Med. Genet. A 121:37-40(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CRBM ARG-420.
    13. "A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism."
      Imai Y., Kanno K., Moriya T., Kayano S., Seino H., Matsubara Y., Yamada A.
      Cleft Palate Craniofac. J. 40:632-638(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CRBM ARG-418.

    Entry informationi

    Entry namei3BP2_HUMAN
    AccessioniPrimary (citable) accession number: P78314
    Secondary accession number(s): A6NNC2
    , B2R5R6, B4DT04, D3DVR0, D6R919, O00500, O15373, P78315
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 133 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3