1. Gene
  2. ARFGEF2 - ADP ribosylation factor guanine nucleotide exchange factor 2 Gene

ARFGEF2 - ADP ribosylation factor guanine nucleotide exchange factor 2 Gene

中文名称:ADP 核糖基化因子鸟嘌呤核苷酸交换因子 2

种属: Homo sapiens

同用名: BIG2; PVNH2; dJ1164I10.1

基因 ID: 10564 | 基因类型: protein coding

关于 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.

功能概要

ADP-核糖基化因子 (ARF) 在细胞内囊泡运输中起重要作用。由该基因编码的蛋白质通过加速用 GTP 替换结合的 GDP 参与 ARF 的激活,并参与高尔基体运输。它包含一个 Sec7 结构域,这可能是其鸟嘌呤-核苷酸交换活性和 brefeldin A 抑制作用的原因。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
10212200 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10716990 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: 通过直接分析推断
12571360 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane transport IMP
IMP: 通过突变表型推断
17276987 GOA
involved in endomembrane system organization IMP
IMP: 通过突变表型推断
20360857 GOA
involved in endosome organization IMP
IMP: 通过突变表型推断
20360857 GOA
acts upstream of or within intracellular signal transduction IDA
IDA: 通过直接分析推断
12571360 GOA
involved in positive regulation of tumor necrosis factor production IMP
IMP: 通过突变表型推断
17276987 GOA
involved in receptor recycling IDA
IDA: 通过直接分析推断
16477018 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
10716990 GOA
located in cytosol IDA
IDA: 通过直接分析推断
12571360 GOA
located in membrane IDA
IDA: 通过直接分析推断
12571360 GOA
located in microtubule organizing center IDA
IDA: 通过直接分析推断
15705715 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
15385626 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ARFGEF2 蛋白结构

Sec7_N

Sec7_N: Guanine nucleotide exchange factor in Golgi transport N-terminal (369 - 530)

Sec7

Sec7: Sec7 domain (641 - 826)

DUF1981

DUF1981: Domain of unknown function (DUF1981) (1166 - 1249)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1785 a.a.
蛋白主名 其他名称

brefeldin A-inhibited guanine nucleotide-exchange protein 2

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

ARFGEF2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARFGEF2 Q9Y6D5 ARFGEF1 Homo sapiens Q9Y6D6
GMS
10716990
种属内
ARFGEF2 Q9Y6D5 ARFGEF1 Homo sapiens Q9Y6D6 35271311
种属内
ARFGEF2 Q9Y6D5 ARFGEF1 Homo sapiens Q9Y6D6 10716990
种属内
ARFGEF2 Q9Y6D5 ARFGEF1 Homo sapiens Q9Y6D6 19332778
种属内
ARFGEF2 Q9Y6D5 MYCBP Homo sapiens Q99417
Y2H
16866877
种属内
ARFGEF2 Q9Y6D5 MYCBP Homo sapiens Q99417 16866877
种属内
ARFGEF2 Q9Y6D5 MYCBP Homo sapiens Q99417 35271311
种属内
ARFGEF2 Q9Y6D5 PDE3A Homo sapiens Q14432 19332778
种属间: 跨种属相互作用 种属内: 同种属相互作用

ARFGEF2 抗体

目录号 产品名 应用 反应物种
HY-P82401 ARFGEF2 Antibody (YA2146) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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