Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23229
Gene name	Cdc42 guanine nucleotide exchange factor 9
Gene symbol	ARHGEF9
Synonyms (NCBI Gene)	COLLYBISTINDEE8EIEE8HPEM-2PEM-2PEM2
Chromosome	X
Chromosome location	Xq11.1
Summary	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 g

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55868891	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs56375542	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 3 prime UTR variant, intron variant, synonymous variant
rs121918361	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs138198839	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs140777637	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs373866956	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs397514460	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs869312941	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1135401795	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556358991	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556389083	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1556401714	C>T	Pathogenic, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1569458475	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569476483	C>T	Likely-pathogenic	Splice donor variant
rs1602253296	C>-	Pathogenic	Downstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1602253507	->T	Likely-pathogenic	Downstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1602491118	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1602577529	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT608457	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT608456	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608455	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608457	hsa-miR-4711-3p	HITS-CLIP	24906430
MIRT608456	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608455	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT575827	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575827	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575829	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT575828	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575827	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT796140	hsa-miR-1224-5p	CLIP-seq
MIRT796141	hsa-miR-154	CLIP-seq
MIRT796142	hsa-miR-3148	CLIP-seq
MIRT796143	hsa-miR-3545-3p	CLIP-seq
MIRT796144	hsa-miR-3605-5p	CLIP-seq
MIRT796145	hsa-miR-376c	CLIP-seq
MIRT796146	hsa-miR-3976	CLIP-seq
MIRT796147	hsa-miR-4260	CLIP-seq
MIRT796148	hsa-miR-4643	CLIP-seq
MIRT796149	hsa-miR-466	CLIP-seq
MIRT796150	hsa-miR-4668-5p	CLIP-seq
MIRT796151	hsa-miR-4680-5p	CLIP-seq
MIRT796152	hsa-miR-4728-3p	CLIP-seq
MIRT796153	hsa-miR-4751	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796155	hsa-miR-4789-3p	CLIP-seq
MIRT796156	hsa-miR-4789-5p	CLIP-seq
MIRT796157	hsa-miR-486-3p	CLIP-seq
MIRT796158	hsa-miR-625	CLIP-seq
MIRT796159	hsa-miR-105	CLIP-seq
MIRT796160	hsa-miR-139-5p	CLIP-seq
MIRT796161	hsa-miR-15a	CLIP-seq
MIRT796162	hsa-miR-15b	CLIP-seq
MIRT796163	hsa-miR-16	CLIP-seq
MIRT796164	hsa-miR-195	CLIP-seq
MIRT796165	hsa-miR-224	CLIP-seq
MIRT796166	hsa-miR-2278	CLIP-seq
MIRT796167	hsa-miR-2467-3p	CLIP-seq
MIRT796168	hsa-miR-3128	CLIP-seq
MIRT796169	hsa-miR-3678-3p	CLIP-seq
MIRT796170	hsa-miR-3973	CLIP-seq
MIRT796171	hsa-miR-424	CLIP-seq
MIRT796172	hsa-miR-4470	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796173	hsa-miR-497	CLIP-seq
MIRT796174	hsa-miR-520g	CLIP-seq
MIRT796175	hsa-miR-520h	CLIP-seq
MIRT796176	hsa-miR-548g	CLIP-seq
MIRT796177	hsa-miR-1197	CLIP-seq
MIRT796140	hsa-miR-1224-5p	CLIP-seq
MIRT796178	hsa-miR-186	CLIP-seq
MIRT796179	hsa-miR-3117-5p	CLIP-seq
MIRT796180	hsa-miR-3123	CLIP-seq
MIRT796181	hsa-miR-3136-5p	CLIP-seq
MIRT796142	hsa-miR-3148	CLIP-seq
MIRT796143	hsa-miR-3545-3p	CLIP-seq
MIRT796144	hsa-miR-3605-5p	CLIP-seq
MIRT796182	hsa-miR-3607-3p	CLIP-seq
MIRT796183	hsa-miR-3622b-5p	CLIP-seq
MIRT796184	hsa-miR-3686	CLIP-seq
MIRT796185	hsa-miR-4300	CLIP-seq
MIRT796186	hsa-miR-4311	CLIP-seq
MIRT796187	hsa-miR-4436a	CLIP-seq
MIRT796188	hsa-miR-4439	CLIP-seq
MIRT796189	hsa-miR-4513	CLIP-seq
MIRT796190	hsa-miR-4539	CLIP-seq
MIRT796150	hsa-miR-4668-5p	CLIP-seq
MIRT796191	hsa-miR-4694-3p	CLIP-seq
MIRT796192	hsa-miR-4704-3p	CLIP-seq
MIRT796193	hsa-miR-4724-5p	CLIP-seq
MIRT796152	hsa-miR-4728-3p	CLIP-seq
MIRT796153	hsa-miR-4751	CLIP-seq
MIRT796154	hsa-miR-4760-3p	CLIP-seq
MIRT796194	hsa-miR-4797-5p	CLIP-seq
MIRT796195	hsa-miR-514	CLIP-seq
MIRT796196	hsa-miR-514b-3p	CLIP-seq
MIRT796197	hsa-miR-522	CLIP-seq
MIRT796198	hsa-miR-577	CLIP-seq
MIRT796158	hsa-miR-625	CLIP-seq
MIRT796199	hsa-miR-920	CLIP-seq
MIRT1935117	hsa-miR-188-5p	CLIP-seq
MIRT1935118	hsa-miR-640	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796159	hsa-miR-105	CLIP-seq
MIRT2175168	hsa-miR-1208	CLIP-seq
MIRT2175169	hsa-miR-1285	CLIP-seq
MIRT796161	hsa-miR-15a	CLIP-seq
MIRT796162	hsa-miR-15b	CLIP-seq
MIRT796163	hsa-miR-16	CLIP-seq
MIRT796164	hsa-miR-195	CLIP-seq
MIRT796165	hsa-miR-224	CLIP-seq
MIRT796166	hsa-miR-2278	CLIP-seq
MIRT796167	hsa-miR-2467-3p	CLIP-seq
MIRT2175170	hsa-miR-3187-5p	CLIP-seq
MIRT2175171	hsa-miR-3663-5p	CLIP-seq
MIRT796169	hsa-miR-3678-3p	CLIP-seq
MIRT2175172	hsa-miR-3682-5p	CLIP-seq
MIRT796170	hsa-miR-3973	CLIP-seq
MIRT796171	hsa-miR-424	CLIP-seq
MIRT2175173	hsa-miR-4463	CLIP-seq
MIRT2175174	hsa-miR-4494	CLIP-seq
MIRT2175175	hsa-miR-4527	CLIP-seq
MIRT2175176	hsa-miR-4772-5p	CLIP-seq
MIRT796173	hsa-miR-497	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796174	hsa-miR-520g	CLIP-seq
MIRT796175	hsa-miR-520h	CLIP-seq
MIRT2175177	hsa-miR-612	CLIP-seq
MIRT2384443	hsa-miR-1324	CLIP-seq
MIRT2384444	hsa-miR-324-5p	CLIP-seq
MIRT1935119	hsa-miR-513a-5p	CLIP-seq
MIRT796186	hsa-miR-4311	CLIP-seq
MIRT2443966	hsa-miR-4768-3p	CLIP-seq
MIRT2478372	hsa-miR-1293	CLIP-seq
MIRT2478373	hsa-miR-200b	CLIP-seq
MIRT2478374	hsa-miR-200c	CLIP-seq
MIRT2478375	hsa-miR-2909	CLIP-seq
MIRT2478376	hsa-miR-338-5p	CLIP-seq
MIRT2478377	hsa-miR-3529	CLIP-seq
MIRT2478378	hsa-miR-3665	CLIP-seq
MIRT2478379	hsa-miR-3691-5p	CLIP-seq
MIRT2478380	hsa-miR-377	CLIP-seq
MIRT2478381	hsa-miR-379	CLIP-seq
MIRT2478382	hsa-miR-429	CLIP-seq
MIRT2478383	hsa-miR-4318	CLIP-seq
MIRT2478384	hsa-miR-4451	CLIP-seq
MIRT2478385	hsa-miR-4483	CLIP-seq
MIRT2478386	hsa-miR-4536	CLIP-seq
MIRT2478387	hsa-miR-4650-3p	CLIP-seq
MIRT2478388	hsa-miR-4693-5p	CLIP-seq
MIRT2478389	hsa-miR-4752	CLIP-seq
MIRT2478390	hsa-miR-590-3p	CLIP-seq
MIRT2478391	hsa-miR-657	CLIP-seq
MIRT2478392	hsa-miR-892a	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0045202	Component	Synapse	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0099150	Process	Regulation of postsynaptic specialization assembly	IBA
GO:0099572	Component	Postsynaptic specialization	IBA

MIM	HGNC	e!Ensembl
300429	14561	ENSG00000131089

O43307

Protein name

Rho guanine nucleotide exchange factor 9 (Collybistin) (PEM-2 homolog) (Rac/Cdc42 guanine nucleotide exchange factor 9)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).

PDB

2YSQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	14 → 59	SH3 domain	Domain
PF00621	RhoGEF	107 → 285	RhoGEF domain	Domain
PF00169	PH	316 → 425	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain. Detected at low levels in heart. {ECO:0000269|PubMed:10559246}.

Sequence

MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPAS
FVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIK
HLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEI
GPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL
TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDIL
YYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY
LVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK

Sequence length

516

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events GABA receptor activation

413

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ARHGEF9-related disorder	Pathogenic	rs782206262	RCV001787685
ARHGEF9-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1602446549	RCV003128417
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs2048831313	RCV001824943
Developmental and epileptic encephalopathy, 8	Likely pathogenic; Pathogenic	rs2052538764, rs2147218558, rs782206262, rs2147307979, rs2147266023, rs2519844189, rs2519728924, rs2519681429, rs2519460570, rs2519616140, rs869312941, rs2519728710, rs2520345214, rs2519903469, rs2519728574 View all (20 more)	RCV001333827 RCV001389751 RCV005095150 RCV001941610 RCV001904140 RCV002286493 RCV002512195 RCV002866030 RCV003007717 RCV003014722 RCV001040965 RCV003108245 RCV003152916 RCV003227551 RCV003228180 RCV000011796 RCV003335787 RCV003335789 RCV003622740 RCV003623338 RCV000022860 RCV000496205 RCV000723327 RCV000585853 RCV003322611 RCV000656417 RCV000688747 RCV000702363 RCV000803773 RCV000990844 RCV000991201 RCV001004738 RCV001004720 RCV001039399 RCV001251162 RCV002298921
Developmental disorder	Pathogenic	rs2519616140	RCV003126265
Global developmental delay	Pathogenic	rs1135401795	RCV002286412
Neurodevelopmental delay	Likely pathogenic	rs2147307937	RCV002274313
Seizure	Pathogenic	rs2519503706	RCV005624448
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1569458475, rs2519503706	RCV005901639 RCV005912371

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs1057521815, rs56401522	RCV005896707 RCV005897402
Autism	Conflicting classifications of pathogenicity	rs1556401730	RCV004698503
Autism spectrum disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs1365914320, rs2050115619, rs2056441301	RCV001249525 RCV001249523 RCV001249524
Cervical cancer	Benign	rs56401522	RCV005897404
Epilepsy	Likely benign; Benign	rs782358245, rs56401522, rs1569481993, rs145382128	RCV000781965 RCV000781964 RCV000781963 RCV000781962
Familial cancer of breast	Benign	rs56401522	RCV005897401
Intellectual disability	Uncertain significance	rs2048829571, rs2050116764, rs1556301404	RCV001249521 RCV001249522 RCV001251680
Lung cancer	Benign	rs56401522	RCV005897408
Malignant tumor of esophagus	Benign	rs56401522	RCV005897403
Microcephaly	Uncertain significance	rs782001294	RCV005626310
Nonpapillary renal cell carcinoma	Uncertain significance	rs2147450532, rs2519503316, rs1602179094	RCV005912545 RCV005931897 RCV005902036
Ovarian serous cystadenocarcinoma	Benign	rs56401522	RCV005897406
Sarcoma	Benign	rs56401522	RCV005897405
Squamous cell carcinoma of the head and neck	Likely benign	rs141158169	RCV005913563
Thymoma	Benign	rs56401522	RCV005897407
Uterine corpus endometrial carcinoma	Benign	rs56401522	RCV005897409

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anxiety	Associate	18615734
Arthrogryposis multiplex congenita distal X linked	Associate	17224690
Autism Spectrum Disorder	Associate	34851771, 35638461
Autistic Disorder	Associate	25898924
Brain Diseases	Associate	35638461
Colorectal Neoplasms	Associate	32503434
Developmental Disabilities	Associate	35638461
Epilepsy	Associate	18615734, 34851771, 35638461
Epileptic Encephalopathy Early Infantile 3	Associate	35638461
Glioma	Inhibit	36852158
Hyperekplexia	Associate	33842008
Intellectual Disability	Associate	18615734, 20622020, 25898924, 34851771
Learning Disabilities	Associate	18615734
Mental Disorders	Associate	34851771
Personality Disorders	Associate	18615734
Psychomotor Disorders	Associate	34851771
Seizures	Associate	20622020, 35638461
Seizures Febrile	Associate	34851771
Sleep Initiation and Maintenance Disorders	Associate	18615734

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)