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Q9Y6D5

- BIG2_HUMAN

UniProt

Q9Y6D5 - BIG2_HUMAN

Protein

Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Gene

ARFGEF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (06 Mar 2007)
      Previous versions | rss
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    Functioni

    Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways.7 Publications

    Enzyme regulationi

    Inhibited by brefeldin A.

    GO - Molecular functioni

    1. ARF guanyl-nucleotide exchange factor activity Source: UniProtKB
    2. GABA receptor binding Source: UniProtKB
    3. guanyl-nucleotide exchange factor activity Source: MGI
    4. protein binding Source: IntAct
    5. protein kinase A regulatory subunit binding Source: UniProtKB

    GO - Biological processi

    1. endomembrane system organization Source: UniProtKB
    2. endosome organization Source: UniProtKB
    3. exocytosis Source: ProtInc
    4. Golgi to plasma membrane transport Source: UniProtKB
    5. intracellular signal transduction Source: MGI
    6. positive regulation of GTPase activity Source: GOC
    7. positive regulation of tumor necrosis factor production Source: UniProtKB
    8. protein transport Source: UniProtKB-KW
    9. receptor recycling Source: UniProtKB
    10. regulation of ARF protein signal transduction Source: InterPro
    11. vesicle-mediated transport Source: RefGenome

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_16907. Association of TriC/CCT with target proteins during biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Brefeldin A-inhibited guanine nucleotide-exchange protein 2
    Short name:
    Brefeldin A-inhibited GEP 2
    Alternative name(s):
    ADP-ribosylation factor guanine nucleotide-exchange factor 2
    Gene namesi
    Name:ARFGEF2
    Synonyms:ARFGEP2, BIG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:15853. ARFGEF2.

    Subcellular locationi

    Cytoplasm. Membrane. Golgi apparatus. Cytoplasmperinuclear region. Golgi apparatustrans-Golgi network By similarity. Endosome By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectiondendrite By similarity. Cytoplasmic vesicle By similarity. Cell junctionsynapse By similarity. Cytoplasmcytoskeleton By similarity
    Note: Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.

    GO - Cellular componenti

    1. asymmetric synapse Source: UniProtKB
    2. axonemal microtubule Source: UniProtKB
    3. cell junction Source: UniProtKB-KW
    4. cytoplasmic membrane-bounded vesicle Source: UniProtKB-SubCell
    5. cytoplasmic vesicle Source: UniProtKB
    6. cytosol Source: MGI
    7. dendritic spine Source: UniProtKB
    8. Golgi membrane Source: UniProtKB
    9. membrane Source: UniProtKB
    10. microtubule organizing center Source: UniProtKB
    11. perinuclear region of cytoplasm Source: UniProtKB-SubCell
    12. recycling endosome Source: UniProtKB
    13. symmetric synapse Source: UniProtKB
    14. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endosome, Golgi apparatus, Membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091E → K in PVNH2. 1 Publication
    Corresponds to variant rs28937880 [ dbSNP | Ensembl ].
    VAR_037438

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi289 – 2891V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication
    Mutagenesisi534 – 5341V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication
    Mutagenesisi738 – 7381E → K: Disturbs membrane organization at the TGN, impairs association of the AP-1 complex and GGA1 with the TGN membranes. 2 Publications

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi608097. phenotype.
    Orphaneti98892. Periventricular nodular heterotopia.
    PharmGKBiPA24945.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 17851785Brefeldin A-inhibited guanine nucleotide-exchange protein 2PRO_0000120208Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei218 – 2181Phosphoserine5 Publications
    Modified residuei227 – 2271Phosphoserine6 Publications
    Modified residuei277 – 2771Phosphoserine2 Publications
    Modified residuei614 – 6141Phosphoserine2 Publications
    Modified residuei616 – 6161PhosphothreonineBy similarity
    Modified residuei1525 – 15251Phosphoserine3 Publications
    Modified residuei1528 – 15281Phosphoserine6 Publications
    Modified residuei1782 – 17821Phosphoserine2 Publications

    Post-translational modificationi

    In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.8 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y6D5.
    PaxDbiQ9Y6D5.
    PRIDEiQ9Y6D5.

    PTM databases

    PhosphoSiteiQ9Y6D5.

    Expressioni

    Tissue specificityi

    Expressed in placenta, lung, heart, brain, kidney and pancreas.

    Gene expression databases

    ArrayExpressiQ9Y6D5.
    BgeeiQ9Y6D5.
    CleanExiHS_ARFGEF2.
    GenevestigatoriQ9Y6D5.

    Organism-specific databases

    HPAiCAB026382.
    HPA026078.

    Interactioni

    Subunit structurei

    Homodimer Probable. Interacts with BIG1; both proteins are probably part of the same or very similar macromolecular complexes. Interacts with PRKAR1A, PRKAR2A, PRKAR1B, PRKAR2B, PPP1CC, PDE3A, TNFRSF1A, MYCBP and EXOC7. Interacts with GABRB1, GABRB2 and GABRB3 By similarity.By similarityCurated

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARFGEF1Q9Y6D63EBI-2837511,EBI-1044254
    EXOC7Q9UPT5-14EBI-2837511,EBI-6251402
    MYCBPQ994175EBI-2837511,EBI-716185

    Protein-protein interaction databases

    BioGridi115815. 17 interactions.
    DIPiDIP-48794N.
    IntActiQ9Y6D5. 12 interactions.
    MINTiMINT-1200143.
    STRINGi9606.ENSP00000360985.

    Structurei

    Secondary structure

    1
    1785
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi641 – 6433
    Turni644 – 6485
    Helixi649 – 6546
    Helixi658 – 66710
    Turni674 – 6785
    Helixi679 – 6824
    Helixi690 – 6945
    Turni695 – 6984
    Turni702 – 7054
    Helixi706 – 7127
    Helixi723 – 7297
    Helixi739 – 75315
    Helixi766 – 77712
    Turni778 – 7825
    Turni796 – 7983
    Beta strandi799 – 8013
    Beta strandi804 – 8085
    Helixi812 – 82211

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3L8NX-ray2.86A635-836[»]
    3SWVX-ray3.00A635-836[»]
    ProteinModelPortaliQ9Y6D5.
    SMRiQ9Y6D5. Positions 637-828.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini654 – 785132SEC7PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 224223DCB; DCB:DCB domain and DCB:HUS domain interactionAdd
    BLAST
    Regioni508 – 52821HUS; DCB:HUS domain interactionAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SEC7 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5307.
    HOGENOMiHOG000181045.
    HOVERGENiHBG004846.
    InParanoidiQ9Y6D5.
    OMAiDALAYFI.
    OrthoDBiEOG7QVM1S.
    PhylomeDBiQ9Y6D5.
    TreeFamiTF300714.

    Family and domain databases

    Gene3Di1.10.1000.11. 1 hit.
    InterProiIPR016024. ARM-type_fold.
    IPR015403. DUF1981_Sec7_assoc.
    IPR023394. Sec7_alpha_orthog.
    IPR000904. Sec7_dom.
    [Graphical view]
    PfamiPF09324. DUF1981. 1 hit.
    PF01369. Sec7. 1 hit.
    [Graphical view]
    SMARTiSM00222. Sec7. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 3 hits.
    SSF48425. SSF48425. 1 hit.
    PROSITEiPS50190. SEC7. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y6D5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQESQTKSMF VSRALEKILA DKEVKRPQHS QLRRACQVAL DEIKAEIEKQ     50
    RLGTAAPPKA NFIEADKYFL PFELACQSKS PRVVSTSLDC LQKLIAYGHI 100
    TGNAPDSGAP GKRLIDRIVE TICSCFQGPQ TDEGVQLQII KALLTAVTSP 150
    HIEIHEGTIL QTVRTCYNIY LASKNLINQT TAKATLTQML NVIFTRMENQ 200
    VLQEARELEK PIQSKPQSPV IQAAAVSPKF VRLKHSQAQS KPTTPEKTDL 250
    TNGEHARSDS GKVSTENGDA PRERGSSLSG TDDGAQEVVK DILEDVVTSA 300
    IKEAAEKHGL TEPERVLGEL ECQECAIPPG VDENSQTNGI ADDRQSLSSA 350
    DNLESDAQGH QVAARFSHVL QKDAFLVFRS LCKLSMKPLG EGPPDPKSHE 400
    LRSKVVSLQL LLSVLQNAGP VFRTHEMFIN AIKQYLCVAL SKNGVSSVPD 450
    VFELSLAIFL TLLSNFKMHL KMQIEVFFKE IFLNILETST SSFEHRWMVI 500
    QTLTRICADA QCVVDIYVNY DCDLNAANIF ERLVNDLSKI AQGRSGHELG 550
    MTPLQELSLR KKGLECLVSI LKCMVEWSKD LYVNPNHQTS LGQERLTDQE 600
    IGDGKGLDMA RRCSVTSMES TVSSGTQTTV QDDPEQFEVI KQQKEIIEHG 650
    IELFNKKPKR GIQFLQEQGM LGTSVEDIAQ FLHQEERLDS TQVGDFLGDS 700
    ARFNKEVMYA YVDQLDFCEK EFVSALRTFL EGFRLPGEAQ KIDRLMEKFA 750
    ARYIECNQGQ TLFASADTAY VLAYSIIMLT TDLHSPQVKN KMTKEQYIKM 800
    NRGINDSKDL PEEYLSSIYE EIEGKKIAMK ETKELTIATK STKQNVASEK 850
    QRRLLYNLEM EQMAKTAKAL MEAVSHAKAP FTSATHLDHV RPMFKLVWTP 900
    LLAAYSIGLQ NCDDTEVASL CLEGIRCAIR IACIFGMQLE RDAYVQALAR 950
    FSLLTASSSI TEMKQKNIDT IKTLITVAHT DGNYLGNSWH EILKCISQLE 1000
    LAQLIGTGVK TRYLSGSGRE REGSLKGHTL AGEEFMGLGL GNLVSGGVDK 1050
    RQMASFQESV GETSSQSVVV AVDRIFTGST RLDGNAIVDF VRWLCAVSMD 1100
    ELASPHHPRM FSLQKIVEIS YYNMNRIRLQ WSRIWHVIGD HFNKVGCNPN 1150
    EDVAIFAVDS LRQLSMKFLE KGELANFRFQ KDFLRPFEHI MKKNRSPTIR 1200
    DMAIRCIAQM VNSQAANIRS GWKNIFAVFH QAASDHDGNI VELAFQTTCH 1250
    IVTTIFQHHF PAAIDSFQDA VKCLSEFACN AAFPDTSMEA IRLIRFCGKY 1300
    VSERPRVLQE YTSDDMNVAP GDRVWVRGWF PILFELSCII NRCKLDVRTR 1350
    GLTVMFEIMK SYGHTFEKHW WQDLFRIVFR IFDNMKLPEQ LSEKSEWMTT 1400
    TCNHALYAIC DVFTQFYEAL NEVLLSDVFA QLQWCVKQDN EQLARSGTNC 1450
    LENLVISNGE KFSPEVWDET CNCMLDIFKT TIPHVLLTWR PVGMEEDSSE 1500
    KHLDVDLDRQ SLSSIDKNPS ERGQSQLSNP TDDSWKGRPY ANQKLFASLL 1550
    IKCVVQLELI QTIDNIVFYP ATSKKEDAEH MVAAQQDTLD ADIHIETEDQ 1600
    GMYKYMSSQH LFKLLDCLQE SHSFSKAFNS NYEQRTVLWR AGFKGKSKPN 1650
    LLKQETSSLA CCLRILFRMY VDENRRDSWE EIQQRLLTVC SEALAYFITV 1700
    NSESHREAWT SLLLLLLTKT LKINDEKFKA HASMYYPYLC EIMQFDLIPE 1750
    LRAVLRKFFL RIGVVYKIWI PEEPSQVPAA LSPVW 1785
    Length:1,785
    Mass (Da):202,038
    Last modified:March 6, 2007 - v3
    Checksum:iD419106E5BAF19C2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti207 – 2071E → R in AAD38428. (PubMed:10212200)Curated
    Sequence conflicti962 – 9621E → K in AAD38428. (PubMed:10212200)Curated
    Sequence conflicti1049 – 10491D → N in AAD38428. (PubMed:10212200)Curated
    Sequence conflicti1763 – 17631G → S in AAD38428. (PubMed:10212200)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091E → K in PVNH2. 1 Publication
    Corresponds to variant rs28937880 [ dbSNP | Ensembl ].
    VAR_037438
    Natural varianti527 – 5271A → V.
    Corresponds to variant rs6063343 [ dbSNP | Ensembl ].
    VAR_028750
    Natural varianti794 – 7941K → E in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036156
    Natural varianti802 – 8021R → Q.1 Publication
    VAR_069404

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF084521 mRNA. Translation: AAD38428.1.
    AL049537, AL121903 Genomic DNA. Translation: CAI19320.1.
    AL121903, AL049537 Genomic DNA. Translation: CAI19614.1.
    CCDSiCCDS13411.1.
    RefSeqiNP_006411.2. NM_006420.2.
    UniGeneiHs.62578.

    Genome annotation databases

    EnsembliENST00000371917; ENSP00000360985; ENSG00000124198.
    GeneIDi10564.
    KEGGihsa:10564.
    UCSCiuc002xtx.4. human.

    Polymorphism databases

    DMDMi146329988.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF084521 mRNA. Translation: AAD38428.1 .
    AL049537 , AL121903 Genomic DNA. Translation: CAI19320.1 .
    AL121903 , AL049537 Genomic DNA. Translation: CAI19614.1 .
    CCDSi CCDS13411.1.
    RefSeqi NP_006411.2. NM_006420.2.
    UniGenei Hs.62578.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3L8N X-ray 2.86 A 635-836 [» ]
    3SWV X-ray 3.00 A 635-836 [» ]
    ProteinModelPortali Q9Y6D5.
    SMRi Q9Y6D5. Positions 637-828.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115815. 17 interactions.
    DIPi DIP-48794N.
    IntActi Q9Y6D5. 12 interactions.
    MINTi MINT-1200143.
    STRINGi 9606.ENSP00000360985.

    PTM databases

    PhosphoSitei Q9Y6D5.

    Polymorphism databases

    DMDMi 146329988.

    Proteomic databases

    MaxQBi Q9Y6D5.
    PaxDbi Q9Y6D5.
    PRIDEi Q9Y6D5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371917 ; ENSP00000360985 ; ENSG00000124198 .
    GeneIDi 10564.
    KEGGi hsa:10564.
    UCSCi uc002xtx.4. human.

    Organism-specific databases

    CTDi 10564.
    GeneCardsi GC20P047538.
    H-InvDB HIX0015895.
    HGNCi HGNC:15853. ARFGEF2.
    HPAi CAB026382.
    HPA026078.
    MIMi 605371. gene.
    608097. phenotype.
    neXtProti NX_Q9Y6D5.
    Orphaneti 98892. Periventricular nodular heterotopia.
    PharmGKBi PA24945.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5307.
    HOGENOMi HOG000181045.
    HOVERGENi HBG004846.
    InParanoidi Q9Y6D5.
    OMAi DALAYFI.
    OrthoDBi EOG7QVM1S.
    PhylomeDBi Q9Y6D5.
    TreeFami TF300714.

    Enzyme and pathway databases

    Reactomei REACT_16907. Association of TriC/CCT with target proteins during biosynthesis.

    Miscellaneous databases

    ChiTaRSi ARFGEF2. human.
    GeneWikii ARFGEF2.
    GenomeRNAii 10564.
    NextBioi 40093.
    PROi Q9Y6D5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6D5.
    Bgeei Q9Y6D5.
    CleanExi HS_ARFGEF2.
    Genevestigatori Q9Y6D5.

    Family and domain databases

    Gene3Di 1.10.1000.11. 1 hit.
    InterProi IPR016024. ARM-type_fold.
    IPR015403. DUF1981_Sec7_assoc.
    IPR023394. Sec7_alpha_orthog.
    IPR000904. Sec7_dom.
    [Graphical view ]
    Pfami PF09324. DUF1981. 1 hit.
    PF01369. Sec7. 1 hit.
    [Graphical view ]
    SMARTi SM00222. Sec7. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 3 hits.
    SSF48425. SSF48425. 1 hit.
    PROSITEi PS50190. SEC7. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors."
      Togawa A., Morinaga N., Ogasawara M., Moss J., Vaughan M.
      J. Biol. Chem. 274:12308-12315(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex."
      Yamaji R., Adamik R., Takeda K., Togawa A., Pacheco-Rodriguez G., Ferrans V.J., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 97:2567-2572(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH BIG1.
    4. "Dominant-negative mutant of BIG2, an ARF-guanine nucleotide exchange factor, specifically affects membrane trafficking from the trans-Golgi network through inhibiting membrane association of AP-1 and GGA coat proteins."
      Shinotsuka C., Waguri S., Wakasugi M., Uchiyama Y., Nakayama K.
      Biochem. Biophys. Res. Commun. 294:254-260(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF GLU-738.
    5. "Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2)."
      Li H., Adamik R., Pacheco-Rodriguez G., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 100:1627-1632(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKAR1A; PRKAR2A; PRKAR1B AND PRKAR2B, SUBCELLULAR LOCATION.
    6. "BIG2, a guanine nucleotide exchange factor for ADP-ribosylation factors: its localization to recycling endosomes and implication in the endosome integrity."
      Shin H.W., Morinaga N., Noda M., Nakayama K.
      Mol. Biol. Cell 15:5283-5294(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLU-738.
    7. "Interaction of BIG2, a brefeldin A-inhibited guanine nucleotide-exchange protein, with exocyst protein Exo70."
      Xu K.F., Shen X., Li H., Pacheco-Rodriguez G., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 102:2784-2789(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EXOC7, SUBCELLULAR LOCATION.
    8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218; SER-227; SER-1525 AND SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. "AMY-1 (associate of Myc-1) localization to the trans-Golgi network through interacting with BIG2, a guanine-nucleotide exchange factor for ADP-ribosylation factors."
      Ishizaki R., Shin H.W., Iguchi-Ariga S.M., Ariga H., Nakayama K.
      Genes Cells 11:949-959(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MYCBP.
    10. "Association of brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2) with recycling endosomes during transferrin uptake."
      Shen X., Xu K.F., Fan Q., Pacheco-Rodriguez G., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 103:2635-2640(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    11. "The brefeldin A-inhibited guanine nucleotide-exchange protein, BIG2, regulates the constitutive release of TNFR1 exosome-like vesicles."
      Islam A., Shen X., Hiroi T., Moss J., Vaughan M., Levine S.J.
      J. Biol. Chem. 282:9591-9599(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH TNFRSF1A.
    12. "Interactions between conserved domains within homodimers in the BIG1, BIG2, and GBF1 Arf guanine nucleotide exchange factors."
      Ramaen O., Joubert A., Simister P., Belgareh-Touze N., Olivares-Sanchez M.C., Zeeh J.C., Chantalat S., Golinelli-Cohen M.P., Jackson C.L., Biou V., Cherfils J.
      J. Biol. Chem. 282:28834-28842(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    13. "Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma."
      Kuroda F., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 104:3201-3206(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION, INTERACTION WITH PPP1CC.
    14. "cAMP-dependent protein kinase A (PKA) signaling induces TNFR1 exosome-like vesicle release via anchoring of PKA regulatory subunit RIIbeta to BIG2."
      Islam A., Jones H., Hiroi T., Lam J., Zhang J., Moss J., Vaughan M., Levine S.J.
      J. Biol. Chem. 283:25364-25371(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH PRKAR2B, MUTAGENESIS OF VAL-289 AND VAL-534.
    15. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218; SER-227; SER-1528 AND SER-1782, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-614, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    17. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    19. "Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity."
      Puxeddu E., Uhart M., Li C.C., Ahmad F., Pacheco-Rodriguez G., Manganiello V.C., Moss J., Vaughan M.
      Proc. Natl. Acad. Sci. U.S.A. 106:6158-6163(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PDE3A.
    20. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-227; SER-277; SER-1525 AND SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    21. "Specific functions of BIG1 and BIG2 in endomembrane organization."
      Boal F., Stephens D.J.
      PLoS ONE 5:E9898-E9898(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    22. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218; SER-227 AND SER-1528, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    23. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    24. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218 AND SER-227, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    25. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    26. "Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex."
      Sheen V.L., Ganesh V.S., Topcu M., Sebire G., Bodell A., Hill R.S., Grant P.E., Shugart Y.Y., Imitola J., Khoury S.J., Guerrini R., Walsh C.A.
      Nat. Genet. 36:69-76(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PVNH2 LYS-209.
    27. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-794.
    28. Cited for: VARIANT GLN-802.

    Entry informationi

    Entry nameiBIG2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y6D5
    Secondary accession number(s): Q5TFT9, Q9NTS1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: March 6, 2007
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 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 20
      Human chromosome 20: 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