ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9 Gene

中文名称：Cdc42 鸟嘌呤核苷酸交换因子 9

种属: Homo sapiens

同用名: DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN

基因 ID: 23229 | 基因类型: protein coding

关于 ARHGEF9

Cytogenetic location: Xq11.1 Genomic coordinates (GRCh38): X:63,634,967-63,785,214 (from NCBI)

This gene has 43 transcripts (splice variants), 179 orthologues, 22 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues.

功能概要

该基因编码的蛋白质是一种 Rho 样 GTP 酶，可在活性 (GTP 结合) 状态和非活性 (GDP 结合) 状态之间切换，以调节 CDC42 和其他基因。这种脑特异性蛋白质还充当募集 gephyrin 的衔接蛋白，这些蛋白质共同促进 GABA 能和甘氨酸能突触中的受体募集。该基因的缺陷是癫痫惊吓病 (STHEE) (也称为癫痫过度惊跳症) 以及其他几种认知障碍的原因。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and Other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several Other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

ARHGEF9 基因产物(27)

mRNA	Protein	Name
NM_001173479.2	NP_001166950.1	rho guanine nucleotide exchange factor 9 isoform 2
NM_001173480.2	NP_001166951.1	rho guanine nucleotide exchange factor 9 isoform 3
NM_001330495.2	NP_001317424.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001353921.2	NP_001340850.1	rho guanine nucleotide exchange factor 9 isoform 5
NM_001353922.2	NP_001340851.1	rho guanine nucleotide exchange factor 9 isoform 6
NM_001353923.1	NP_001340852.1	rho guanine nucleotide exchange factor 9 isoform 7
NM_001353924.2	NP_001340853.1	rho guanine nucleotide exchange factor 9 isoform 8
NM_001353926.2	NP_001340855.1	rho guanine nucleotide exchange factor 9 isoform 9
NM_001353927.2	NP_001340856.1	rho guanine nucleotide exchange factor 9 isoform 10
NM_001353928.2	NP_001340857.1	rho guanine nucleotide exchange factor 9 isoform 11
NM_001369030.1	NP_001355959.1	rho guanine nucleotide exchange factor 9 isoform 1
NM_001369031.1	NP_001355960.1	rho guanine nucleotide exchange factor 9 isoform 12
NM_001369032.1	NP_001355961.1	rho guanine nucleotide exchange factor 9 isoform 12
NM_001369033.1	NP_001355962.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369034.1	NP_001355963.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369035.1	NP_001355964.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369036.1	NP_001355965.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369037.1	NP_001355966.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369038.1	NP_001355967.1	rho guanine nucleotide exchange factor 9 isoform 4
NM_001369039.1	NP_001355968.1	rho guanine nucleotide exchange factor 9 isoform 8
NM_001369040.1	NP_001355969.1	rho guanine nucleotide exchange factor 9 isoform 9
NM_001369041.1	NP_001355970.1	rho guanine nucleotide exchange factor 9 isoform 10
NM_001369042.1	NP_001355971.1	rho guanine nucleotide exchange factor 9 isoform 3
NM_001369043.1	NP_001355972.1	rho guanine nucleotide exchange factor 9 isoform 13
NM_001369044.1	NP_001355973.1	rho guanine nucleotide exchange factor 9 isoform 13
NM_001369045.1	NP_001355974.1	rho guanine nucleotide exchange factor 9 isoform 14
NM_015185.3	NP_056000.1	rho guanine nucleotide exchange factor 9 isoform 1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	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

ARHGEF9 蛋白结构

SH3_9

RhoGEF

0
100
200
300
400
516 a.a.

蛋白主名

其他名称

rho guanine nucleotide exchange factor 9

Cdc42 guanine nucleotide exchange factor (GEF) 9

ARHGEF9 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	ARHGEF9	O43307	TSGA10IP	Homo sapiens	Q3SY00	Validated Y2H	32296183
种属内	ARHGEF9	O43307	ZNF410	Homo sapiens	Q86VK4-3	Validated Y2H	32296183
种属内	ARHGEF9	O43307	VEZF1	Homo sapiens	Q14119	Validated Y2H	32296183
种属内	ARHGEF9	O43307	FANCL	Homo sapiens	Q9NW38	Validated Y2H	32296183
种属内	ARHGEF9	O43307	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
种属内	ARHGEF9	O43307	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
种属内	ARHGEF9	O43307	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
种属内	ARHGEF9	O43307	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	32296183
种属内	ARHGEF9	O43307	TBC1D22B	Homo sapiens	Q9NU19	Validated Y2H	32296183
种属内	ARHGEF9	O43307	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
种属内	ARHGEF9	O43307	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
种属内	ARHGEF9	O43307	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Developmental And Epileptic Encephalopathy 8

DEE8	Epileptic Encephalopathy, Early Infantile, 8
Eiee8	Hyperekplexia And Epilepsy
Developmental And Epileptic Encephalopathy, 8	Early Infantile Epileptic Encephalopathy 8
Hyperekplexia-Epilepsy Syndrome	Hyperekplexia With Epilepsy
Startle Disease With Epilepsy	Encephalopathy, Epileptic, Early Infantile, Type 8

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Retinitis Pigmentosa 84

RP84	Retinitis Pigmentosa, Type 84

Tetanus Neonatorum

Neonatal Tetanus	NNT
Trismus Neonatorum	Newborn Trismus

Ritscher-Schinzel Syndrome 2

RTSC2

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type	Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type
EBS1A	Ebsdm
Epidermolysis Bullosa Simplex Dowling-Meara Type	Epidermolysis Bullosa Simplex, Herpetiformis
Ebs-Dm	Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type
Ebs-Gen Sev	Epidermolysis Bullosa Herpetiformis Dowling-Meara Type
Generalized Severe Epidermolysis Bullosa Simplex	Dowling-Meara Type Epidermolysis Bullosa Simplex
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Autosomal Dominant Generalized Ebs, Severe Form
Epidermolysis Bullosa Simplex Herpetiformis	Dm-Ebs
Epidermolysis Bullosa Simplex, Generalized Severe	Epidermolysis Bullosa Herpetiformis, Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00965	ARHGEF9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	ARHGEF9	VGNC	VGNC:59910
Macaca mulatta	ARHGEF9	VGNC	VGNC:69828
Mus musculus	ARHGEF9	MGD	MGI:2442233
Bos taurus	ARHGEF9	VGNC	VGNC:26122
Rattus norvegicus	ARHGEF9	RGD	RGD:620719
Canis familiaris	ARHGEF9	VGNC	VGNC:38092

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