ARFGEF2 - ADP ribosylation factor guanine nucleotide exchange factor 2 Gene

Homo sapiens

Also known as BIG2; PVNH2; dJ1164I10.1

Gene ID: 10564 | Gene type: protein coding

About ARFGEF2

Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38): 20:48,921,711-49,036,693 (from NCBI)

This gene has 13 transcripts (splice variants), 219 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 19.9), adrenal (RPKM 14.6) and 25 other tissues.

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]

ARFGEF2 Products(2)

mRNA	Protein	Name
NM_001410846.1	NP_001397775.1	brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform 2
NM_006420.3	NP_006411.2	brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	10212200	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10716990	GOA
enables protein kinase A regulatory subunit binding	IDA IDA: Inferred from direct assay	12571360	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi to plasma membrane transport	IMP IMP: Inferred from mutant phenotype	17276987	GOA
involved in endomembrane system organization	IMP IMP: Inferred from mutant phenotype	20360857	GOA
involved in endosome organization	IMP IMP: Inferred from mutant phenotype	20360857	GOA
acts upstream of or within intracellular signal transduction	IDA IDA: Inferred from direct assay	12571360	GOA
involved in positive regulation of tumor necrosis factor production	IMP IMP: Inferred from mutant phenotype	17276987	GOA
involved in receptor recycling	IDA IDA: Inferred from direct assay	16477018	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	10716990	GOA
located in cytosol	IDA IDA: Inferred from direct assay	12571360	GOA
located in membrane	IDA IDA: Inferred from direct assay	12571360	GOA
located in microtubule organizing center	IDA IDA: Inferred from direct assay	15705715	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	15385626	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARFGEF2 Protein Structure

Sec7_N

Sec7

DUF1981

0
300
600
900
1200
1500
1785 a.a.

Protein Preferred Names

Protein Names

brefeldin A-inhibited guanine nucleotide-exchange protein 2

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)

Related Diseases

Diseases

Alias

Periventricular Heterotopia With Microcephaly, Autosomal Recessive

Heterotopia, Periventricular, Autosomal Recessive	ARPHM
Periventricular Nodular Heterotopia 2	PVNH2
Periventricular Heterotopia With Microcephaly	Autosomal Recessive Periventricular Nodular Heterotopia Type 2
Periventricular Heterotopia Autosomal Recessive	Periventricular Heterotopia With Microcephaly Autosomal Recessive

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Band Heterotopia

Subcortical Band Heterotopia	Double Cortex Syndrome
Subcortical Laminar Heterotopia	Double Cortex
Band Heterotopia Of Brain	BH
Heco	Heterotopic Cortex
Familial Band Heterotopia	Dc
Dc Syndrome	Heterotopia, Subcortical Band
Sbh	Sclh
Bhy

Van Maldergem Syndrome

Van Maldergem Wetzburger Verloes Syndrome	Cerebro-Facio-Articular Syndrome
Cerebro-Facio-Articular Syndrome Of Van Maldergem	Cerebrofacioarticular Syndrome
Cerebro Facio Articular Syndrome	Van Maldergem-Wetzburger-Verloes Syndrome

Hypomelanosis Of Ito

Incontinentia Pigmenti Achromians	Nevus Of Ito
Ipa	Ito Hypomelanosis
Ito	Pigmentation Disorders
HMI	Incontinentia Pigmenti, Type I, Formerly
Ip1, Formerly	Bloch-Siemans Syndrome
Incontinentia Pigmenti Achromians Syndrome	Ito'S Nevus
Incontinentia Pigmenti Type 1	Nevi Of Ito
Nevus Fuscocaeruleus Acromiodeltoideus	Bloch Sulzberger Syndrome
Skin Pigmentation Disorder

Aicardi Syndrome

AIC	Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
Agenesis Of Corpus Callosum With Chorioretinal Abnormality	Aicardi'S Syndrome
Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities	Callosal Agenesis And Ocular Abnormalities
Chorioretinal Anomalies With Acc

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria	Polymicrogyria, Bilateral Perisylvian
Pmgx	Perisylvian Syndrome, Congenital Bilateral
Cbps	Congenital Bilateral Perisylvian Syndrome
Perisylvian Syndrome	BPPX
Bpp

Melnick-Needles Syndrome

MNS	Melnick-Needles Osteodysplasty
Osteodysplasty Of Melnick And Needles	Osteochondrodysplasias

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn	Organoid Nevus Phakomatosis
Linear Nevus Sebaceous Syndrome	Sfm Syndrome
Jadassohn Nevus Phakomatosis	Jnp
Schimmelpenning Syndrome	Solomon Syndrome
SFM	Linear Sebaceous Nevus Syndrome
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic	Nevus Sebaceus Syndrome
Organoid Nevus Syndrome	Schimmelpenning Feuerstein Mims Syndrome
Sebaceous Nevus Syndrome, Linear	Epidermal Nevus Syndrome, Formerly
Sebaceous Nevus Syndrome Linear	Linear Nevus Sebaceus Syndrome
Epidermal Nevus Syndrome	Ss
Nevus Sebaceous

Polymicrogyria

Pmg

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00903	ARFGEF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ARFGEF2	VGNC	VGNC:26065
Canis familiaris	ARFGEF2	VGNC	VGNC:38036
Macaca mulatta	ARFGEF2	VGNC	VGNC:69836
Felis catus	ARFGEF2	VGNC	VGNC:59869
Rattus norvegicus	ARFGEF2	RGD	RGD:631430
Mus musculus	ARFGEF2	MGD	MGI:2139354

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