UniProtKB - Q9Y6D5 (BIG2_HUMAN)

BLAST

>sp|Q9Y6D5|BIG2_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 2 OS=Homo sapiens OX=9606 GN=ARFGEF2 PE=1 SV=3
MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVALDEIKAEIEKQRLGTAAPPKA
NFIEADKYFLPFELACQSKSPRVVSTSLDCLQKLIAYGHITGNAPDSGAPGKRLIDRIVE
TICSCFQGPQTDEGVQLQIIKALLTAVTSPHIEIHEGTILQTVRTCYNIYLASKNLINQT
TAKATLTQMLNVIFTRMENQVLQEARELEKPIQSKPQSPVIQAAAVSPKFVRLKHSQAQS
KPTTPEKTDLTNGEHARSDSGKVSTENGDAPRERGSSLSGTDDGAQEVVKDILEDVVTSA
IKEAAEKHGLTEPERVLGELECQECAIPPGVDENSQTNGIADDRQSLSSADNLESDAQGH
QVAARFSHVLQKDAFLVFRSLCKLSMKPLGEGPPDPKSHELRSKVVSLQLLLSVLQNAGP
VFRTHEMFINAIKQYLCVALSKNGVSSVPDVFELSLAIFLTLLSNFKMHLKMQIEVFFKE
IFLNILETSTSSFEHRWMVIQTLTRICADAQCVVDIYVNYDCDLNAANIFERLVNDLSKI
AQGRSGHELGMTPLQELSLRKKGLECLVSILKCMVEWSKDLYVNPNHQTSLGQERLTDQE
IGDGKGLDMARRCSVTSMESTVSSGTQTTVQDDPEQFEVIKQQKEIIEHGIELFNKKPKR
GIQFLQEQGMLGTSVEDIAQFLHQEERLDSTQVGDFLGDSARFNKEVMYAYVDQLDFCEK
EFVSALRTFLEGFRLPGEAQKIDRLMEKFAARYIECNQGQTLFASADTAYVLAYSIIMLT
TDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSSIYEEIEGKKIAMKETKELTIATK
STKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHAKAPFTSATHLDHVRPMFKLVWTP
LLAAYSIGLQNCDDTEVASLCLEGIRCAIRIACIFGMQLERDAYVQALARFSLLTASSSI
TEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKTRYLSGSGRE
REGSLKGHTLAGEEFMGLGLGNLVSGGVDKRQMASFQESVGETSSQSVVVAVDRIFTGST
RLDGNAIVDFVRWLCAVSMDELASPHHPRMFSLQKIVEISYYNMNRIRLQWSRIWHVIGD
HFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKKNRSPTIR
DMAIRCIAQMVNSQAANIRSGWKNIFAVFHQAASDHDGNIVELAFQTTCHIVTTIFQHHF
PAAIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRFCGKYVSERPRVLQEYTSDDMNVAP
GDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKSYGHTFEKHWWQDLFRIVFR
IFDNMKLPEQLSEKSEWMTTTCNHALYAICDVFTQFYEALNEVLLSDVFAQLQWCVKQDN
EQLARSGTNCLENLVISNGEKFSPEVWDETCNCMLDIFKTTIPHVLLTWRPVGMEEDSSE
KHLDVDLDRQSLSSIDKNPSERGQSQLSNPTDDSWKGRPYANQKLFASLLIKCVVQLELI
QTIDNIVFYPATSKKEDAEHMVAAQQDTLDADIHIETEDQGMYKYMSSQHLFKLLDCLQE
SHSFSKAFNSNYEQRTVLWRAGFKGKSKPNLLKQETSSLACCLRILFRMYVDENRRDSWE
EIQQRLLTVCSEALAYFITVNSESHREAWTSLLLLLLTKTLKINDEKFKAHASMYYPYLC
EIMQFDLIPELRAVLRKFFLRIGVVYKIWIPEEPSQVPAALSPVW

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History
Entry version 169 (07 Nov 2018)
Sequence version 3 (06 Mar 2007)
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Protein

Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Gene

ARFGEF2

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent 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

Activity regulationⁱ

Inhibited by brefeldin A.

GO - Molecular functionⁱ

ARF guanyl-nucleotide exchange factor activity
Source: UniProtKB
Inferred from direct assayⁱ
- 15385626
GABA receptor binding Source: UniProtKB
guanyl-nucleotide exchange factor activity
Source: MGI
Inferred from direct assayⁱ
- 10212200
myosin binding Source: Ensembl
protein kinase A regulatory subunit binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12571360

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

endomembrane system organization
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20360857
endosome organization
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20360857
exocytosis
Source: ProtInc
Traceable author statementⁱ
- 10212200
Golgi to plasma membrane transport
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17276987
intracellular signal transduction
Source: MGI
Inferred from direct assayⁱ
- 12571360
positive regulation of tumor necrosis factor production
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17276987
protein transport Source: UniProtKB-KW
receptor recycling
Source: UniProtKB
Inferred from direct assayⁱ
- 16477018
regulation of ARF protein signal transduction Source: InterPro
vesicle-mediated transport
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Guanine-nucleotide releasing factor
Biological process	Protein transport, Transport

Enzyme and pathway databases

Reactomeⁱ	R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

Reactomeⁱ

R-HSA-390471 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 20

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000124198.8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:15853 ARFGEF2
MIMⁱ	605371 gene
neXtProtⁱ	NX_Q9Y6D5

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)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	289	V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication	1
Mutagenesisⁱ	534	V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication	1
Mutagenesisⁱ	738	E → K: Disturbs membrane organization at the TGN, impairs association of the AP-1 complex and GGA1 with the TGN membranes. 2 Publications	1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	10564
MalaCards human disease database More...MalaCardsⁱ	ARFGEF2
MIMⁱ	608097 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000124198
Orphanetⁱ	98892 Periventricular nodular heterotopia
PharmGKBⁱ	PA24945

Polymorphism and mutation databases

BioMutaⁱ	ARFGEF2
DMDMⁱ	146329988

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000120208	1 – 1785	Brefeldin A-inhibited guanine nucleotide-exchange protein 2Add BLAST		1785

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	1	N-acetylmethionineCombined sources	1
Modified residueⁱ	214	PhosphoserineCombined sources	1
Modified residueⁱ	218	PhosphoserineCombined sources	1
Modified residueⁱ	227	PhosphoserineCombined sources	1
Modified residueⁱ	244	PhosphothreonineCombined sources	1
Modified residueⁱ	277	PhosphoserineCombined sources	1
Modified residueⁱ	348	PhosphoserineBy similarity	1
Modified residueⁱ	349	PhosphoserineCombined sources	1
Modified residueⁱ	614	PhosphoserineCombined sources	1
Modified residueⁱ	616	PhosphothreonineBy similarity	1
Modified residueⁱ	617	PhosphoserineBy similarity	1
Modified residueⁱ	626	PhosphothreonineBy similarity	1
Modified residueⁱ	700	PhosphoserineCombined sources	1
Modified residueⁱ	1511	PhosphoserineCombined sources	1
Modified residueⁱ	1513	PhosphoserineBy similarity	1
Modified residueⁱ	1514	PhosphoserineBy similarity	1
Modified residueⁱ	1525	PhosphoserineCombined sources	1
Modified residueⁱ	1528	PhosphoserineCombined sources	1
Modified residueⁱ	1534	PhosphoserineBy similarity	1
Modified residueⁱ	1782	PhosphoserineCombined sources	1

Post-translational modificationⁱ

In vitro phosphorylated by PKA reducing its GEF activity and dephosphorylated by phosphatase PP1.1 Publication

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	Q9Y6D5
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9Y6D5
PaxDbⁱ	Q9Y6D5
PeptideAtlas More...PeptideAtlasⁱ	Q9Y6D5
PRIDEⁱ	Q9Y6D5
ProteomicsDBⁱ	86654

PTM databases

iPTMnetⁱ	Q9Y6D5
PhosphoSitePlusⁱ	Q9Y6D5

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000124198 Expressed in 235 organ(s), highest expression level in caput epididymis
CleanExⁱ	HS_ARFGEF2
Genevisibleⁱ	Q9Y6D5 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB026382 HPA026078

HPAⁱ

CAB026382
HPA026078

Interactionⁱ

Subunit structureⁱ

Homodimer (Probable). Interacts with ARFGEF1/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

With	Entry	#Exp.	IntAct
ARFGEF1	Q9Y6D6	12	EBI-2837511,EBI-1044254
EXOC7	Q9UPT5-1	4	EBI-2837511,EBI-6251402
MYCBP	Q99417	5	EBI-2837511,EBI-716185
PDE3A	Q14432	5	EBI-2837511,EBI-7192066

GO - Molecular functionⁱ

ARF guanyl-nucleotide exchange factor activity
Source: UniProtKB
Inferred from direct assayⁱ
- 15385626
GABA receptor binding Source: UniProtKB
guanyl-nucleotide exchange factor activity
Source: MGI
Inferred from direct assayⁱ
- 10212200
myosin binding Source: Ensembl
protein kinase A regulatory subunit binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12571360

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	115815, 57 interactors
Database of interacting proteins More...DIPⁱ	DIP-48794N
IntActⁱ	Q9Y6D5, 16 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y6D5
STRINGⁱ	9606.ENSP00000360985

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	641 – 643	Combined sources	3
Turnⁱ	644 – 648	Combined sources	5
Helixⁱ	649 – 654	Combined sources	6
Helixⁱ	658 – 667	Combined sources	10
Turnⁱ	674 – 678	Combined sources	5
Helixⁱ	679 – 682	Combined sources	4
Helixⁱ	690 – 694	Combined sources	5
Turnⁱ	695 – 698	Combined sources	4
Turnⁱ	702 – 705	Combined sources	4
Helixⁱ	706 – 712	Combined sources	7
Helixⁱ	723 – 729	Combined sources	7
Helixⁱ	739 – 753	Combined sources	15
Helixⁱ	766 – 777	Combined sources	12
Turnⁱ	778 – 782	Combined sources	5
Turnⁱ	796 – 798	Combined sources	3
Beta strandⁱ	799 – 801	Combined sources	3
Beta strandⁱ	804 – 808	Combined sources	5
Helixⁱ	812 – 822	Combined sources	11

Show more details

3D structure databases

ProteinModelPortalⁱ	Q9Y6D5
SMRⁱ	Q9Y6D5
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	654 – 785	SEC7PROSITE-ProRule annotationAdd BLAST		132

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	2 – 224	DCB; DCB:DCB domain and DCB:HUS domain interactionAdd BLAST		223
Regionⁱ	508 – 528	HUS; DCB:HUS domain interactionAdd BLAST		21

Phylogenomic databases

eggNOGⁱ	KOG0929 Eukaryota COG5307 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119036
HOGENOMⁱ	HOG000181045
HOVERGENⁱ	HBG004846
InParanoidⁱ	Q9Y6D5
KEGG Orthology (KO) More...KOⁱ	K18442
OMAⁱ	DQLDFCG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00F0
PhylomeDBⁱ	Q9Y6D5
TreeFamⁱ	TF300714

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00171 Sec7, 1 hit
Gene3Dⁱ	1.10.1000.11, 1 hit
InterProⁱ	View protein in InterPro IPR016024 ARM-type_fold IPR032629 DCB_dom IPR015403 Sec7_C IPR023394 Sec7_C_sf IPR000904 Sec7_dom IPR035999 Sec7_dom_sf IPR032691 Sec7_N
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF16213 DCB, 1 hit PF09324 DUF1981, 1 hit PF01369 Sec7, 1 hit PF12783 Sec7_N, 1 hit
SMARTⁱ	View protein in SMART SM00222 Sec7, 1 hit
SUPFAMⁱ	SSF48371 SSF48371, 1 hit SSF48425 SSF48425, 1 hit
PROSITEⁱ	View protein in PROSITE PS50190 SEC7, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q9Y6D5-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MQESQTKSMF VSRALEKILA DKEVKRPQHS QLRRACQVAL DEIKAEIEKQ 
        60         70         80         90        100
RLGTAAPPKA NFIEADKYFL PFELACQSKS PRVVSTSLDC LQKLIAYGHI 
       110        120        130        140        150
TGNAPDSGAP GKRLIDRIVE TICSCFQGPQ TDEGVQLQII KALLTAVTSP 
       160        170        180        190        200
HIEIHEGTIL QTVRTCYNIY LASKNLINQT TAKATLTQML NVIFTRMENQ 
       210        220        230        240        250
VLQEARELEK PIQSKPQSPV IQAAAVSPKF VRLKHSQAQS KPTTPEKTDL 
       260        270        280        290        300
TNGEHARSDS GKVSTENGDA PRERGSSLSG TDDGAQEVVK DILEDVVTSA 
       310        320        330        340        350
IKEAAEKHGL TEPERVLGEL ECQECAIPPG VDENSQTNGI ADDRQSLSSA 
       360        370        380        390        400
DNLESDAQGH QVAARFSHVL QKDAFLVFRS LCKLSMKPLG EGPPDPKSHE 
       410        420        430        440        450
LRSKVVSLQL LLSVLQNAGP VFRTHEMFIN AIKQYLCVAL SKNGVSSVPD 
       460        470        480        490        500
VFELSLAIFL TLLSNFKMHL KMQIEVFFKE IFLNILETST SSFEHRWMVI 
       510        520        530        540        550
QTLTRICADA QCVVDIYVNY DCDLNAANIF ERLVNDLSKI AQGRSGHELG 
       560        570        580        590        600
MTPLQELSLR KKGLECLVSI LKCMVEWSKD LYVNPNHQTS LGQERLTDQE 
       610        620        630        640        650
IGDGKGLDMA RRCSVTSMES TVSSGTQTTV QDDPEQFEVI KQQKEIIEHG 
       660        670        680        690        700
IELFNKKPKR GIQFLQEQGM LGTSVEDIAQ FLHQEERLDS TQVGDFLGDS 
       710        720        730        740        750
ARFNKEVMYA YVDQLDFCEK EFVSALRTFL EGFRLPGEAQ KIDRLMEKFA 
       760        770        780        790        800
ARYIECNQGQ TLFASADTAY VLAYSIIMLT TDLHSPQVKN KMTKEQYIKM 
       810        820        830        840        850
NRGINDSKDL PEEYLSSIYE EIEGKKIAMK ETKELTIATK STKQNVASEK 
       860        870        880        890        900
QRRLLYNLEM EQMAKTAKAL MEAVSHAKAP FTSATHLDHV RPMFKLVWTP 
       910        920        930        940        950
LLAAYSIGLQ NCDDTEVASL CLEGIRCAIR IACIFGMQLE RDAYVQALAR 
       960        970        980        990       1000
FSLLTASSSI TEMKQKNIDT IKTLITVAHT DGNYLGNSWH EILKCISQLE 
      1010       1020       1030       1040       1050
LAQLIGTGVK TRYLSGSGRE REGSLKGHTL AGEEFMGLGL GNLVSGGVDK 
      1060       1070       1080       1090       1100
RQMASFQESV GETSSQSVVV AVDRIFTGST RLDGNAIVDF VRWLCAVSMD 
      1110       1120       1130       1140       1150
ELASPHHPRM FSLQKIVEIS YYNMNRIRLQ WSRIWHVIGD HFNKVGCNPN 
      1160       1170       1180       1190       1200
EDVAIFAVDS LRQLSMKFLE KGELANFRFQ KDFLRPFEHI MKKNRSPTIR 
      1210       1220       1230       1240       1250
DMAIRCIAQM VNSQAANIRS GWKNIFAVFH QAASDHDGNI VELAFQTTCH 
      1260       1270       1280       1290       1300
IVTTIFQHHF PAAIDSFQDA VKCLSEFACN AAFPDTSMEA IRLIRFCGKY 
      1310       1320       1330       1340       1350
VSERPRVLQE YTSDDMNVAP GDRVWVRGWF PILFELSCII NRCKLDVRTR 
      1360       1370       1380       1390       1400
GLTVMFEIMK SYGHTFEKHW WQDLFRIVFR IFDNMKLPEQ LSEKSEWMTT 
      1410       1420       1430       1440       1450
TCNHALYAIC DVFTQFYEAL NEVLLSDVFA QLQWCVKQDN EQLARSGTNC 
      1460       1470       1480       1490       1500
LENLVISNGE KFSPEVWDET CNCMLDIFKT TIPHVLLTWR PVGMEEDSSE 
      1510       1520       1530       1540       1550
KHLDVDLDRQ SLSSIDKNPS ERGQSQLSNP TDDSWKGRPY ANQKLFASLL 
      1560       1570       1580       1590       1600
IKCVVQLELI QTIDNIVFYP ATSKKEDAEH MVAAQQDTLD ADIHIETEDQ 
      1610       1620       1630       1640       1650
GMYKYMSSQH LFKLLDCLQE SHSFSKAFNS NYEQRTVLWR AGFKGKSKPN 
      1660       1670       1680       1690       1700
LLKQETSSLA CCLRILFRMY VDENRRDSWE EIQQRLLTVC SEALAYFITV 
      1710       1720       1730       1740       1750
NSESHREAWT SLLLLLLTKT LKINDEKFKA HASMYYPYLC EIMQFDLIPE 
      1760       1770       1780 
LRAVLRKFFL RIGVVYKIWI PEEPSQVPAA LSPVW

Length:1,785

Mass (Da):202,038

Last modified:March 6, 2007 - v3

Checksum:ⁱD419106E5BAF19C2

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	207	E → R in AAD38428 (PubMed:10212200).Curated	1
Sequence conflictⁱ	962	E → K in AAD38428 (PubMed:10212200).Curated	1
Sequence conflictⁱ	1049	D → N in AAD38428 (PubMed:10212200).Curated	1
Sequence conflictⁱ	1763	G → S in AAD38428 (PubMed:10212200).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_037438	209	E → K in PVNH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28937880EnsemblClinVar.	1
Natural variantⁱVAR_028750	527	A → V. Corresponds to variant dbSNP:rs6063343Ensembl.	1
Natural variantⁱVAR_036156	794	K → E in a breast cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_069404	802	R → Q1 PublicationCorresponds to variant dbSNP:rs748482139Ensembl.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF084521 mRNA Translation: AAD38428.1 AL049537 Genomic DNA No translation available. AL121903 Genomic DNA No translation available.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13411.1
NCBI Reference Sequences More...RefSeqⁱ	NP_006411.2, NM_006420.2
UniGeneⁱ	Hs.62578

Genome annotation databases

Ensemblⁱ	ENST00000371917; ENSP00000360985; ENSG00000124198
GeneIDⁱ	10564
KEGGⁱ	hsa:10564
UCSC genome browser More...UCSCⁱ	uc002xtx.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6D5	ADP-ribosylation factor guanine nucleotide-exchange factor 2 variant (Fragment)		HUMAN		821	UniRef100_Q9Y6D5

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6D5	Brefeldin A-inhibited guanine nucleotide-exchange protein 2		MOUSE		1792	UniRef90_Q9Y6D5
Brefeldin A-inhibited guanine nucleotide-exchange protein 2		RAT		1791
ADP-ribosylation factor guanine nucleotide-exchange factor 2 variant (Fragment)		HUMAN		821
brefeldin A-inhibited guanine nucleotide-exchange protein 2		URSMA		1837
Brefeldin A-inhibited guanine nucleotide-exchange protein 2		MYOBR		1829
+225

Protein	Similar proteins		Species	Score	Length	Source
Q9Y6D5	Brefeldin A-inhibited guanine nucleotide-exchange protein 2		MOUSE		1792	UniRef50_Q9Y6D5
Brefeldin A-inhibited guanine nucleotide-exchange protein 2		RAT		1791
ADP-ribosylation factor guanine nucleotide-exchange factor 2 variant (Fragment)		HUMAN		821
brefeldin A-inhibited guanine nucleotide-exchange protein 2		URSMA		1837
Brefeldin A-inhibited guanine nucleotide-exchange protein 2		MYOBR		1829
+584

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF084521 mRNA Translation: AAD38428.1 AL049537 Genomic DNA No translation available. AL121903 Genomic DNA No translation available.
CCDSⁱ	CCDS13411.1
RefSeqⁱ	NP_006411.2, NM_006420.2
UniGeneⁱ	Hs.62578

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB 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
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	115815, 57 interactors
DIPⁱ	DIP-48794N
IntActⁱ	Q9Y6D5, 16 interactors
MINTⁱ	Q9Y6D5
STRINGⁱ	9606.ENSP00000360985

PTM databases

iPTMnetⁱ	Q9Y6D5
PhosphoSitePlusⁱ	Q9Y6D5

Polymorphism and mutation databases

BioMutaⁱ	ARFGEF2
DMDMⁱ	146329988

Proteomic databases

EPDⁱ	Q9Y6D5
MaxQBⁱ	Q9Y6D5
PaxDbⁱ	Q9Y6D5
PeptideAtlasⁱ	Q9Y6D5
PRIDEⁱ	Q9Y6D5
ProteomicsDBⁱ	86654

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000371917; ENSP00000360985; ENSG00000124198
GeneIDⁱ	10564
KEGGⁱ	hsa:10564
UCSCⁱ	uc002xtx.5 human

Organism-specific databases

CTDⁱ	10564
DisGeNETⁱ	10564
EuPathDBⁱ	HostDB:ENSG00000124198.8
GeneCardsⁱ	ARFGEF2
H-InvDBⁱ	HIX0015895
HGNCⁱ	HGNC:15853 ARFGEF2
HPAⁱ	CAB026382 HPA026078
MalaCardsⁱ	ARFGEF2
MIMⁱ	605371 gene 608097 phenotype
neXtProtⁱ	NX_Q9Y6D5
OpenTargetsⁱ	ENSG00000124198
Orphanetⁱ	98892 Periventricular nodular heterotopia
PharmGKBⁱ	PA24945
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0929 Eukaryota COG5307 LUCA
GeneTreeⁱ	ENSGT00760000119036
HOGENOMⁱ	HOG000181045
HOVERGENⁱ	HBG004846
InParanoidⁱ	Q9Y6D5
KOⁱ	K18442
OMAⁱ	DQLDFCG
OrthoDBⁱ	EOG091G00F0
PhylomeDBⁱ	Q9Y6D5
TreeFamⁱ	TF300714

Enzyme and pathway databases

Reactomeⁱ	R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

Reactomeⁱ

R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis

Miscellaneous databases

ChiTaRSⁱ	ARFGEF2 human
GeneWikiⁱ	ARFGEF2
GenomeRNAiⁱ	10564
Protein Ontology More...PROⁱ	PR:Q9Y6D5
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000124198 Expressed in 235 organ(s), highest expression level in caput epididymis
CleanExⁱ	HS_ARFGEF2
Genevisibleⁱ	Q9Y6D5 HS

Family and domain databases

CDDⁱ	cd00171 Sec7, 1 hit
Gene3Dⁱ	1.10.1000.11, 1 hit
InterProⁱ	View protein in InterPro IPR016024 ARM-type_fold IPR032629 DCB_dom IPR015403 Sec7_C IPR023394 Sec7_C_sf IPR000904 Sec7_dom IPR035999 Sec7_dom_sf IPR032691 Sec7_N
Pfamⁱ	View protein in Pfam PF16213 DCB, 1 hit PF09324 DUF1981, 1 hit PF01369 Sec7, 1 hit PF12783 Sec7_N, 1 hit
SMARTⁱ	View protein in SMART SM00222 Sec7, 1 hit
SUPFAMⁱ	SSF48371 SSF48371, 1 hit SSF48425 SSF48425, 1 hit
PROSITEⁱ	View protein in PROSITE PS50190 SEC7, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	BIG2_HUMAN
Accessionⁱ	Q9Y6D5Primary (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:	November 7, 2018
	This is version 169 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - Q9Y6D5 (BIG2_HUMAN)

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Brefeldin A-inhibited guanine nucleotide-exchange protein 2

ARFGEF2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Golgi apparatus

Cytoskeleton

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Cytoskeleton

Cytosol

Endosome

Golgi apparatus

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ