ARFGEF2 - ADP ribosylation factor guanine nucleotide exchange factor 2 Gene

Also Known as BIG2; PVNH2; dJ1164I10.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10564

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	Verweise	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	Verweise	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	Verweise	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)

ARFGEF2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ARFGEF2	Q9Y6D5	ARFGEF1	Homo sapiens	Q9Y6D6	GMS	10716990
Intra	ARFGEF2	Q9Y6D5	ARFGEF1	Homo sapiens	Q9Y6D6	Anti Tag CoIP	35271311
Intra	ARFGEF2	Q9Y6D5	ARFGEF1	Homo sapiens	Q9Y6D6	Anti Bait CoIP	10716990
Intra	ARFGEF2	Q9Y6D5	ARFGEF1	Homo sapiens	Q9Y6D6	Anti Bait CoIP	19332778
Intra	ARFGEF2	Q9Y6D5	MYCBP	Homo sapiens	Q99417	Y2H	16866877
Intra	ARFGEF2	Q9Y6D5	MYCBP	Homo sapiens	Q99417	Anti Tag CoIP	16866877
Intra	ARFGEF2	Q9Y6D5	MYCBP	Homo sapiens	Q99417	Anti Tag CoIP	35271311
Intra	ARFGEF2	Q9Y6D5	PDE3A	Homo sapiens	Q14432	Anti Bait CoIP	19332778

Cross: Cross-species interaction Intra: Intraspecies interaction

ARFGEF2 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82401	ARFGEF2 Antibody (YA2146)	WB	Human, Mouse, Rat
HY-P82401A	ARFGEF2 Antibody (YA2146)(PBS only)	WB	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00903	ARFGEF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ARFGEF2	NCBI