ARHGEF15 (Rho guanine nucleotide exchange factor 15)

Gene

• Entrez ID: 22899
• Gene name: Rho guanine nucleotide exchange factor 15
• Gene symbol: ARHGEF15
• Synonyms (NCBI Gene): ARGEF15, E5, Ephexin5, Vsm-RhoGEF
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555546796	GTCCCCCGTCGGGCC>-	Likely-pathogenic	Inframe deletion, genic upstream transcript variant, upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT795517	hsa-miR-3064-5p	CLIP-seq
MIRT795518	hsa-miR-3176	CLIP-seq
MIRT795519	hsa-miR-3652	CLIP-seq
MIRT795520	hsa-miR-3922-3p	CLIP-seq
MIRT795521	hsa-miR-4420	CLIP-seq
MIRT795522	hsa-miR-4430	CLIP-seq
MIRT795523	hsa-miR-4459	CLIP-seq
MIRT795524	hsa-miR-4505	CLIP-seq
MIRT795525	hsa-miR-665	CLIP-seq
MIRT795526	hsa-miR-892b	CLIP-seq
MIRT1934895	hsa-miR-1253	CLIP-seq
MIRT1934896	hsa-miR-1299	CLIP-seq
MIRT1934897	hsa-miR-3074-5p	CLIP-seq
MIRT1934898	hsa-miR-3182	CLIP-seq
MIRT1934899	hsa-miR-370	CLIP-seq
MIRT1934900	hsa-miR-4511	CLIP-seq
MIRT1934901	hsa-miR-4659a-3p	CLIP-seq
MIRT1934902	hsa-miR-4659b-3p	CLIP-seq
MIRT1934903	hsa-miR-4691-3p	CLIP-seq
MIRT1934904	hsa-miR-4782-5p	CLIP-seq
MIRT1934905	hsa-miR-516b	CLIP-seq
MIRT1934906	hsa-miR-7	CLIP-seq
MIRT1934907	hsa-miR-767-3p	CLIP-seq
MIRT1934908	hsa-miR-875-3p	CLIP-seq
MIRT795526	hsa-miR-892b	CLIP-seq
MIRT2174676	hsa-miR-2467-5p	CLIP-seq
MIRT2174677	hsa-miR-3188	CLIP-seq
MIRT2174678	hsa-miR-3929	CLIP-seq
MIRT2174679	hsa-miR-3975	CLIP-seq
MIRT2174680	hsa-miR-4419b	CLIP-seq
MIRT2174681	hsa-miR-4478	CLIP-seq
MIRT2174682	hsa-miR-4649-3p	CLIP-seq
MIRT2174683	hsa-miR-485-5p	CLIP-seq
MIRT2478121	hsa-miR-3688-3p	CLIP-seq
MIRT2478122	hsa-miR-3923	CLIP-seq
MIRT2478123	hsa-miR-4261	CLIP-seq
MIRT795525	hsa-miR-665	CLIP-seq
MIRT2675305	hsa-miR-1273g	CLIP-seq
MIRT2675306	hsa-miR-1286	CLIP-seq
MIRT2675307	hsa-miR-4722-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	12775584
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	12775584, 26871637, 32296183
GO:0005737	Component	Cytoplasm	ISS
GO:0030425	Component	Dendrite	ISS
GO:0050790	Process	Regulation of catalytic activity	IDA	12775584
GO:0051496	Process	Positive regulation of stress fiber assembly	ISS
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0090630	Process	Activation of GTPase activity	IBA	21873635
GO:2000297	Process	Negative regulation of synapse maturation	ISS

Other IDs

• MIM: 608504
• HGNC: 15590
• e!Ensembl: ENSG00000198844

Protein

• UniProt ID: O94989
• Protein name: Rho guanine nucleotide exchange factor 15 (Ephexin-5) (E5) (Vsm-RhoGEF)
• Protein function: Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2. {ECO:0000269|PubMed:12
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	421 → 599	RhoGEF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the vascular smooth muscle of coronary artery. {ECO:0000269|PubMed:12775584}.
• Sequence:

  MSAQSLPAATPPTQKPPRIIRPRPPSRSRAAQSPGPPHNGSSPQELPRNSNDAPTPMCTP
  IFWEPPAASLKPPALLPPSASRASLDSQTSPDSPSSTPTPSPVSRRSASPEPAPRSPVPP
  PKPSGSPCTPLLPMAGVLAQNGSASAPGTVRRLAGRFEGGAEGRAQDADAPEPGLQARAD
  VNGEREAPLTGSGSQENGAPDAGLACPPCCPCVCHTTRPGLELRWVPVGGYEEVPRVPRR
  ASPLRTSRSRPHPPSIGHPAVVLTSYRSTAERKLLPLLKPPKPTRVRQDATIFGDPPQPD
  LDLLSEDGIQTGDSPDEAPQNTPPATVEGREEEGLEVLKEQNWELPLQDEPLYQTYRAAV
  LSEELWGVGEDGSPSPANAGDAPTFPRPPGPRNTLWQELPAVQASGLLDTLSPQERRMQE
  SLFEVVTSEASYLRSLRLLTDTFVLSQALRDTLTPRDHHTLFSNVQRVQGVSERFLATLL
  SRVRSSPHISDLCDVVHAHAVGPFSVYVDYVRNQQYQEETYSRLMDTNVRFSAELRRLQS
  LPKCERLPLPSFLLLPFQRITRLRMLLQNILRQTEEGSSRQENAQKALGAVSKIIERCSA
  EVGRMKQTEELIRLTQRLRFHKVKALPLVSWSRRLEFQGELTELGCRRGGVLFASRPRFT
  PLCLLLFSDLLLITQPKSGQRLQVLDYAHRSLVQAQQVPDPSGPPTFRLSLLSNHQGRPT
  HRLLQASSLSDMQRWLGAFPTPGPLPCSPDTIYEDCDCSQELCSESSAPAKTEGRSLESR
  AAPKHLHKTPEGWLKGLPGAFPAQLVCEVTGEHERRRHLRQNQRLLEAVGSSSGTPNAPP
  P

• Sequence length: 841

Pathways

Reactome:

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

Associated diseases

Unknown
Disease term	Disease name	Evidence	References	Source
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC
Bipolar Disorder	Bipolar Disorder			GWAS
Uterine Fibroids	Uterine Fibroids			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Stimulate	27145964
Epilepsy Rolandic	Associate	29789371
Neoplasms	Associate	27145964
Pancreatic Neoplasms	Associate	27145964
Polypoidal Choroidal Vasculopathy	Associate	29789371