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UniProtKB - Q9Y6D5 (BIG2_HUMAN)

Entry version 183 (17 Jun 2020)
Sequence version 3 (06 Mar 2007)
Previous versions | rss
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Protein

Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Gene

ARFGEF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by brefeldin A.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARFGEF2
Synonyms:ARFGEP2, BIG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000124198.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:15853 ARFGEF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605371 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y6D5

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_037438209E → K in PVNH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28937880EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi289V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication1
Mutagenesisi534V → W: Abolishes interaction with PRKAR2B and impairs TNFRSF1A release. 1 Publication1
Mutagenesisi738E → K: Disturbs membrane organization at the TGN, impairs association of the AP-1 complex and GGA1 with the TGN membranes. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10564

MalaCards human disease database

More...MalaCardsi		ARFGEF2
MIMi608097 phenotype

Open Targets

More...OpenTargetsi		ENSG00000124198

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98892 Periventricular nodular heterotopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24945

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y6D5 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4105732

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARFGEF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		146329988

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001202081 – 1785Brefeldin A-inhibited guanine nucleotide-exchange protein 2Add BLAST1785

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei218PhosphoserineCombined sources1
Modified residuei227PhosphoserineCombined sources1
Modified residuei244PhosphothreonineCombined sources1
Modified residuei277PhosphoserineCombined sources1
Modified residuei348PhosphoserineBy similarity1
Modified residuei349PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei616PhosphothreonineBy similarity1
Modified residuei617PhosphoserineBy similarity1
Modified residuei626PhosphothreonineBy similarity1
Modified residuei700PhosphoserineCombined sources1
Modified residuei1511PhosphoserineCombined sources1
Modified residuei1513PhosphoserineBy similarity1
Modified residuei1514PhosphoserineBy similarity1
Modified residuei1525PhosphoserineCombined sources1
Modified residuei1528PhosphoserineCombined sources1
Modified residuei1534PhosphoserineBy similarity1
Modified residuei1782PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y6D5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y6D5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y6D5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y6D5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y6D5

PeptideAtlas

More...PeptideAtlasi		Q9Y6D5

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6D5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86654

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6D5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y6D5

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000124198 Expressed in caput epididymis and 234 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6D5 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000124198 Tissue enhanced (parathyroid)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115815, 64 interactors

Database of interacting proteins

More...DIPi		DIP-48794N

Protein interaction database and analysis system

More...IntActi		Q9Y6D5, 33 interactors

Molecular INTeraction database

More...MINTi		Q9Y6D5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360985

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y6D5 protein

<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

11785
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y6D5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini654 – 785SEC7PROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 224DCB; DCB:DCB domain and DCB:HUS domain interactionAdd BLAST223
Regioni508 – 528HUS; DCB:HUS domain interactionAdd BLAST21

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0929 Eukaryota
COG5307 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158950

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000691_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6D5

KEGG Orthology (KO)

More...KOi		K18442

Identification of Orthologs from Complete Genome Data

More...OMAi		FRMYSDP

Database of Orthologous Groups

More...OrthoDBi		815698at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6D5

TreeFam database of animal gene trees

More...TreeFami		TF300714

Family and domain databases

Conserved Domains Database

More...CDDi		cd00171 Sec7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1000.11, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00222 Sec7, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50190 SEC7, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q9Y6D5-1 [UniParc]FASTAAdd 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD419106E5BAF19C2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti207E → R in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti962E → K in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti1049D → N in AAD38428 (PubMed:10212200).Curated1
Sequence conflicti1763G → S in AAD38428 (PubMed:10212200).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037438209E → K in PVNH2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28937880EnsemblClinVar.1
Natural variantiVAR_028750527A → V. Corresponds to variant dbSNP:rs6063343Ensembl.1
Natural variantiVAR_036156794K → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_069404802R → Q1 PublicationCorresponds to variant dbSNP:rs748482139Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000371917; ENSP00000360985; ENSG00000124198

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10564

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10564

UCSC genome browser

More...UCSCi		uc002xtx.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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.
CCDSiCCDS13411.1
RefSeqiNP_006411.2, NM_006420.2

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 entryMethodResolution (Å)ChainPositionsPDBsum
3L8NX-ray2.86A635-836[»]
3SWVX-ray3.00A635-836[»]
SMRiQ9Y6D5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115815, 64 interactors
DIPiDIP-48794N
IntActiQ9Y6D5, 33 interactors
MINTiQ9Y6D5
STRINGi9606.ENSP00000360985

Chemistry databases

ChEMBLiCHEMBL4105732

PTM databases

iPTMnetiQ9Y6D5
PhosphoSitePlusiQ9Y6D5

Polymorphism and mutation databases

BioMutaiARFGEF2
DMDMi146329988

Proteomic databases

EPDiQ9Y6D5
jPOSTiQ9Y6D5
MassIVEiQ9Y6D5
MaxQBiQ9Y6D5
PaxDbiQ9Y6D5
PeptideAtlasiQ9Y6D5
PRIDEiQ9Y6D5
ProteomicsDBi86654

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13512 133 antibodies

Genome annotation databases

EnsembliENST00000371917; ENSP00000360985; ENSG00000124198
GeneIDi10564
KEGGihsa:10564
UCSCiuc002xtx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10564
DisGeNETi10564
EuPathDBiHostDB:ENSG00000124198.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARFGEF2
HGNCiHGNC:15853 ARFGEF2
HPAiENSG00000124198 Tissue enhanced (parathyroid)
MalaCardsiARFGEF2
MIMi605371 gene
608097 phenotype
neXtProtiNX_Q9Y6D5
OpenTargetsiENSG00000124198
Orphaneti98892 Periventricular nodular heterotopia
PharmGKBiPA24945

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0929 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00940000158950
HOGENOMiCLU_000691_1_2_1
InParanoidiQ9Y6D5
KOiK18442
OMAiFRMYSDP
OrthoDBi815698at2759
PhylomeDBiQ9Y6D5
TreeFamiTF300714

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10564 3 hits in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ARFGEF2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARFGEF2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		10564
PharosiQ9Y6D5 Tbio

Protein Ontology

More...PROi		PR:Q9Y6D5
RNActiQ9Y6D5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124198 Expressed in caput epididymis and 234 other tissues
GenevisibleiQ9Y6D5 HS

Family and domain databases

CDDicd00171 Sec7, 1 hit
Gene3Di1.10.1000.11, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF16213 DCB, 1 hit
PF09324 DUF1981, 1 hit
PF01369 Sec7, 1 hit
PF12783 Sec7_N, 1 hit
SMARTiView protein in SMART
SM00222 Sec7, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit
PROSITEiView protein in PROSITE
PS50190 SEC7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBIG2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6D5
Secondary accession number(s): Q5TFT9, Q9NTS1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 6, 2007
Last modified: June 17, 2020
This is version 183 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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