Gene Gene information from NCBI Gene database.
Entrez ID 10564
Gene name ARF guanine nucleotide exchange factor 2
Gene symbol ARFGEF2
Synonyms (NCBI Gene)
BIG2PVNH2dJ1164I10.1
Chromosome 20
Chromosome location 20q13.13
Summary ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It
SNPs SNP information provided by dbSNP.
18
SNP ID Visualize variation Clinical significance Consequence
rs28937880 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs139037316 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs140378669 C>T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant
rs142036030 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs143570842 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
744
miRTarBase ID miRNA Experiments Reference
MIRT050608 hsa-miR-20a-5p CLASH 23622248
MIRT042348 hsa-miR-484 CLASH 23622248
MIRT039010 hsa-miR-766-3p CLASH 23622248
MIRT640172 hsa-miR-552-3p HITS-CLIP 23824327
MIRT640171 hsa-miR-329-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 10716990, 12571360
GO:0001881 Process Receptor recycling IDA 16477018
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10212200, 15385626
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605371 15853 ENSG00000124198
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6D5
Protein name Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (Brefeldin A-inhibited GEP 2) (ADP-ribosylation factor guanine nucleotide-exchange factor 2)
Protein function 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 th
PDB 3L8N , 3SWV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16213 DCB 4 200 Dimerisation and cyclophilin-binding domain of Mon2 Family
PF12783 Sec7_N 370 529 Guanine nucleotide exchange factor in Golgi transport N-terminal Domain
PF01369 Sec7 643 827 Sec7 domain Domain
PF09324 DUF1981 1167 1250 Domain of unknown function (DUF1981) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in placenta, lung, heart, brain, kidney and pancreas.
Sequence
MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVALDEIKAEIEKQRLGTAAPPKA
NFIEADKYFLPFELACQSKSPRVVSTSLDCLQKLIAYGHITGNAPDSGAPGKRLIDRIVE
TICSCFQGPQTDEGVQLQIIKALLTAVTSPHIEIHEGTILQTVRTCYNIYLASKNLINQT
TAKATLTQMLNVIFTRMENQ
VLQEARELEKPIQSKPQSPVIQAAAVSPKFVRLKHSQAQS
KPTTPEKTDLTNGEHARSDSGKVSTENGDAPRERGSSLSGTDDGAQEVVKDILEDVVTSA
IKEAAEKHGLTEPERVLGELECQECAIPPGVDENSQTNGIADDRQSLSSADNLESDAQGH
QVAARFSHVLQKDAFLVFRSLCKLSMKPLGEGPPDPKSHELRSKVVSLQLLLSVLQNAGP
VFRTHEMFINAIKQYLCVALSKNGVSSVPDVFELSLAIFLTLLSNFKMHLKMQIEVFFKE
IFLNILETSTSSFEHRWMVIQTLTRICADAQCVVDIYVNYDCDLNAANI
FERLVNDLSKI
AQGRSGHELGMTPLQELSLRKKGLECLVSILKCMVEWSKDLYVNPNHQTSLGQERLTDQE
IGDGKGLDMARRCSVTSMESTVSSGTQTTVQDDPEQFEVIKQQKEIIEHGIELFNKKPKR
GIQFLQEQGMLGTSVEDIAQFLHQEERLDSTQVGDFLGDSARFNKEVMYAYVDQLDFCEK
EFVSALRTFLEGFRLPGEAQKIDRLMEKFAARYIECNQGQTLFASADTAYVLAYSIIMLT
TDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSSIYEEIEGKKI
AMKETKELTIATK
STKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHAKAPFTSATHLDHVRPMFKLVWTP
LLAAYSIGLQNCDDTEVASLCLEGIRCAIRIACIFGMQLERDAYVQALARFSLLTASSSI
TEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKTRYLSGSGRE
REGSLKGHTLAGEEFMGLGLGNLVSGGVDKRQMASFQESVGETSSQSVVVAVDRIFTGST
RLDGNAIVDFVRWLCAVSMDELASPHHPRMFSLQKIVEISYYNMNRIRLQWSRIWHVIGD
HFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKKNRSPTIR
DMAIRCIAQMVNSQAANIRSGWKNIFAVFHQAASDHDGNIVELAFQTTCH
IVTTIFQHHF
PAAIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRFCGKYVSERPRVLQEYTSDDMNVAP
GDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKSYGHTFEKHWWQDLFRIVFR
IFDNMKLPEQLSEKSEWMTTTCNHALYAICDVFTQFYEALNEVLLSDVFAQLQWCVKQDN
EQLARSGTNCLENLVISNGEKFSPEVWDETCNCMLDIFKTTIPHVLLTWRPVGMEEDSSE
KHLDVDLDRQSLSSIDKNPSERGQSQLSNPTDDSWKGRPYANQKLFASLLIKCVVQLELI
QTIDNIVFYPATSKKEDAEHMVAAQQDTLDADIHIETEDQGMYKYMSSQHLFKLLDCLQE
SHSFSKAFNSNYEQRTVLWRAGFKGKSKPNLLKQETSSLACCLRILFRMYVDENRRDSWE
EIQQRLLTVCSEALAYFITVNSESHREAWTSLLLLLLTKTLKINDEKFKAHASMYYPYLC
EIMQFDLIPELRAVLRKFFLRIGVVYKIWIPEEPSQVPAALSPVW
Sequence length 1785
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Pathogenic rs730882200 RCV000162104
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus Pathogenic rs730882200 RCV000162104
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periventricular heterotopia with microcephaly, autosomal recessive Pathogenic; Likely pathogenic rs1568711950, rs374632843, rs2515542106, rs2515997041, rs772953658, rs1555811929, rs1600623496, rs1380925561, rs2091529784, rs398122523 RCV001784763
RCV002283708
RCV003131981
RCV003338073
RCV004594844
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periventricular laminar heterotopia Likely pathogenic rs2091537662 RCV001290449
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARFGEF2-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Sickle Cell Sickle cell anemia Pubtator 21264913 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 19384555 Associate
★☆☆☆☆
Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia Periventricular heterotopia BEFREE 19384555, 26126837
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29207087, 30335191, 31134488
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 27155012 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 26126837
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33258187 Associate
★☆☆☆☆
Found in Text Mining only
Dystonia Disorders Dystonia BEFREE 25160555
★☆☆☆☆
Found in Text Mining only