ADP-Ribosylation Factor Guanine Nucleotide Exchange Factor 2

Alternative Names

  • ARFGEF2
  • Brefeldin A-Inhibited Guanine Nucleotide Exchange Protein 2
  • BIG2
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OMIM Number

605371

NCBI Gene ID

10564

Uniprot ID

Q9Y6D5

Length

114,983 bases

No. of Exons

39

No. of isoforms

1

Protein Name

Brefeldin A-inhibited guanine nucleotide-exchange protein 2

Molecular Mass

202038 Da

Amino Acid Count

1785

Genomic Location

chr20:48,921,710-49,036,692

Gene Map Locus
20q13.13

Description

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 contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006420.3:c.2776C>TEgypt; LebanonNC_000020.11:g.48989646C>TPathogenicPeriventricular Heterotopia With Microcephaly, Autosomal RecessiveNG_011490.2:g.72909C>T; NM_006420.3:c.2776C>T; NP_006411.2:p.Arg926Ter773569365
NM_006420.3:c.656dupSaudi ArabiaNC_000020.11:g.48953608dupPathogenicLikely PathogenicPeriventricular Heterotopia With Microcephaly, Autosomal RecessiveNG_011490.2:g.36871dup; NM_006420.3:c.656dup; NP_006411.2:p.Val220CysfsTer35730882200183282
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