RBCC Red Blood Cell Collection

BIG2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ARFGEF2 , ARFGEP2, BIG2
Protein names and data: BIG2_HUMAN , Brefeldin A-inhibited guanine nucleotide-exchange protein 2; Brefeldin A-inhibited GEP 2 , ADP-ribosylation factor guanine nucleotide-exchange factor 2 Lenght: 1785 a.a.
Mass: 202038 Da
fasta formatted sequence
Function: Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extend 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.
Disease: ( OMIM: 605371 608097 ) Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Membrane. Golgi apparatus. Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network (By similarity). Endosome (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, dendrite (By similarity). Cytoplasmic vesicle (By similarity). Cell junction, synapse (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Translocates from cytoplasm to membranes upon cAMP treatment. Localized in recycling endosomes.
Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas.

Genetic variants

209 - 209 E -> K (in PVNH2; dbSNP:rs28937880). VAR_037438 28937880
527 - 527 A -> V (in dbSNP:rs6063343). VAR_028750 6063343
794 - 794 K -> E (in a breast cancer sample; somatic mutation). VAR_036156
802 - 802 R -> Q. VAR_069404

Database cross-references

UniProt: Q9Y6D5
Ensembl: ENST00000371917
MIM: 605371
MIM: 608097
neXtProt: NX_Q9Y6D5
Antibodypedia: Q9Y6D5 (may not find the protein thus also not any antibody)
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