ARFGEF2 ARF guanine nucleotide exchange factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARFGEF2provided by HGNC
Official Full Name: ARF guanine nucleotide exchange factor 2provided by HGNC
Primary source: HGNC:HGNC:15853
See related: Ensembl:ENSG00000124198 MIM:605371; AllianceGenome:HGNC:15853
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BIG2; PVNH2; dJ1164I10.1
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 contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 19.9), adrenal (RPKM 14.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (48921711..49036693)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (50690875..50806194)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (47538248..47653230)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BIG1 and BIG2 knockdown significantly decreased the levels of VEGF mRNA and protein in glioblastoma U251 cells and HUVECs. Furthermore, depletion of BIG1 and BIG2 inhibited HUVEC angiogenesis by diminishing cell migration.
Title: Involvement of BIG1 and BIG2 in regulating VEGF expression and angiogenesis.
Both phospholipase D activity and vesicular trafficking were required for effects of BIG1 and BIG2 on beta-catenin activation. Levels of PKA-phosphorylated beta-catenin S675 and beta-catenin association with PKA, BIG1, and BIG2 were also diminished after BIG1/BIG2 depletion.
Title: Enhancement of β-catenin activity by BIG1 plus BIG2 via Arf activation and cAMP signals.
Description of a novel ARFGEF2 mutation in five related patients presenting with West syndrome, microcephaly, periventricular heterotopia and thin corpus callosum.
Title: West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.
The clinical phenotype associated with mutations in ARFGEF2 is relatively homogeneous in the families report.
Title: Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
Title: Arf guanine nucleotide-exchange factors BIG1 and BIG2 regulate nonmuscle myosin IIA activity by anchoring myosin phosphatase complex.
an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
Title: The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).
Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin beta1 cycling and actin remodeling.
Title: Brefeldin A-inhibited ADP-ribosylation factor activator BIG2 regulates cell migration via integrin β1 cycling and actin remodeling.
Up-regulation of ARFGEF2 is associated with the Huntington's disease.
Title: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2): a new potential biomarker in Huntington's disease.
BIG1 and BIG2 have roles in endomembrane organization
Title: Specific functions of BIG1 and BIG2 in endomembrane organization.
Results describe a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations.
Title: Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Periventricular heterotopia with microcephaly, autosomal recessive MedGen: C1842563 OMIM: 608097 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of proneness to anger. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2; BIG2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64065 (e-PCR)
- UniSTS:74033

L18426 (e-PCR)
- UniSTS:34648

WI-17563 (e-PCR)
- UniSTS:64607

D1S1423 (e-PCR)
- UniSTS:149619

STS-R64296 (e-PCR)
- UniSTS:45429

AL031485 (e-PCR)
- UniSTS:69271

AL030970 (e-PCR)
- UniSTS:1181

SHGC-52869 (e-PCR)
- UniSTS:80884

G18085 (e-PCR)
- UniSTS:7677

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables myosin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A regulatory subunit binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endomembrane system organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in receptor recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ARF protein signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in asymmetric synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed
located_in symmetric synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: brefeldin A-inhibited guanine nucleotide-exchange protein 2

Names: ADP ribosylation factor guanine nucleotide exchange factor 2; ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited); brefeldin A-inhibited GEP 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011490.2 RefSeqGene

Range

4974..119956

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410846.1 → NP_001397775.1 brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL049537, AL121903

Consensus CDS

CCDS93055.1

UniProtKB/TrEMBL

A0A7P0T7Z2, A0A7P0TA34

Related

ENSP00000504888.1, ENST00000679436.1
NM_006420.3 → NP_006411.2 brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform 1

See identical proteins and their annotated locations for NP_006411.2

Status: REVIEWED

Source sequence(s)

AB209397, AK074303, AL049537, AL121903, BC050449

Consensus CDS

CCDS13411.1

UniProtKB/Swiss-Prot

Q5TFT9, Q9NTS1, Q9Y6D5

UniProtKB/TrEMBL

A0A7P0TA34

Related

ENSP00000360985.4, ENST00000371917.5

Conserved Domains (5) summary

PLN03076
Location:11 → 1711

PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional

pfam01369
Location:643 → 827

Sec7; Sec7 domain

pfam09324
Location:1167 → 1248

DUF1981; Domain of unknown function (DUF1981)

pfam12783
Location:370 → 524

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

pfam16213
Location:28 → 198

DCB; Dimerization and cyclophilin-binding domain of Mon2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

48921711..49036693

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047439832.1 → XP_047295788.1 brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform X1

UniProtKB/TrEMBL

A0A7P0TA34

Related

ENST00000679542.1