ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)

2006-10-01  

Identity

HGNC
ARFGEF2
LOCATION
20q13.13
LOCUSID
10564
ALIAS
BIG2,PVNH2,dJ1164I10.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10564
MIM: 605371
HGNC: 15853
Ensembl: ENSG00000124198

Variants:

dbSNP: 10564
ClinVar: 10564
TCGA: ENSG00000124198
COSMIC: ARFGEF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124198ENST00000371917Q9Y6D5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
311996732019Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.8
311996732019Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.8
271623412016Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.12
271623412016Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.12
233866092013The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).47
237559382013Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.2
238129122013West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.13
239183822013Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.12
233866092013The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).47
237559382013Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.2
238129122013West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.13
239183822013Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.12
229082762012Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling.9
229082762012Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling.9
203608572010Specific functions of BIG1 and BIG2 in endomembrane organization.30

Citation

Dessen P

ARFGEF2 (ADP ribosylation factor guanine nucleotide exchange factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43129/arfgef2-(adp-ribosylation-factor-guanine-nucleotide-exchange-factor-2)