Entity Details

Primary name BIG2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y6D5
EntryNameBIG2_HUMAN
FullNameBrefeldin A-inhibited guanine nucleotide-exchange protein 2
TaxID9606
Evidenceevidence at protein level
Length1785
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesARFGEF2

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001881 receptor recycling
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005879 axonemal microtubule
GO:0006887 exocytosis
GO:0006893 Golgi to plasma membrane transport
GO:0007032 endosome organization
GO:0010256 endomembrane system organization
GO:0015031 protein transport
GO:0016020 membrane
GO:0017022 myosin binding
GO:0031410 cytoplasmic vesicle
GO:0032012 regulation of ARF protein signal transduction
GO:0032279 asymmetric synapse
GO:0032280 symmetric synapse
GO:0032760 positive regulation of tumor necrosis factor production
GO:0034237 protein kinase A regulatory subunit binding
GO:0035556 intracellular signal transduction
GO:0043197 dendritic spine
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm
GO:0050811 GABA receptor binding
GO:0055037 recycling endosome

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm
Cytoplasmic vesicle
Endosome
Golgi apparatus
Membrane

Domains

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DomainNameCategoryType
IPR000904 Sec7 domainDomainDomain
IPR015403 Sec7, C-terminalDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR023394 Sec7, C-terminal domain superfamilyFamilyHomologous superfamily
IPR032629 Mon2, dimerisation and cyclophilin-binding domainDomainDomain
IPR032691 Guanine nucleotide exchange factor, N-terminalDomainDomain
IPR035999 Sec7 domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
608097 OMIMPeriventricular nodular heterotopia 2 (PVNH2)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. The disease is caused by variants affecting the gene represented in this entry.