ARHGEF25 (Rho guanine nucleotide exchange factor 25)

Gene

• Entrez ID: 115557
• Gene name: Rho guanine nucleotide exchange factor 25
• Gene symbol: ARHGEF25
• Synonyms (NCBI Gene): GEFT, p63RhoGEF
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascula

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049431	hsa-miR-92a-3p	CLASH	23622248
MIRT043803	hsa-miR-328-3p	CLASH	23622248
MIRT731219	hsa-miR-3189-3p	qRT-PCR, Luciferase reporter assay, Western blot	25645911
MIRT731219	hsa-miR-3189-3p	qRT-PCR, Luciferase reporter assay, Western blot	25645911
MIRT731219	hsa-miR-3189-3p	qRT-PCR, Luciferase reporter assay, Western blot	25645911
MIRT795621	hsa-miR-1275	CLIP-seq
MIRT795622	hsa-miR-1322	CLIP-seq
MIRT795623	hsa-miR-153	CLIP-seq
MIRT795624	hsa-miR-3144-5p	CLIP-seq
MIRT795625	hsa-miR-3619-3p	CLIP-seq
MIRT795626	hsa-miR-4665-5p	CLIP-seq
MIRT795627	hsa-miR-591	CLIP-seq
MIRT2174772	hsa-miR-29a	CLIP-seq
MIRT2174773	hsa-miR-29b	CLIP-seq
MIRT2174774	hsa-miR-29c	CLIP-seq
MIRT2174775	hsa-miR-3065-3p	CLIP-seq

Gene ontology (GO)

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:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007411	Process	Axon guidance	IBA
GO:0016020	Component	Membrane	IEA
GO:0019898	Component	Extrinsic component of membrane	IBA
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 610215
• HGNC: 30275
• e!Ensembl: ENSG00000240771

Protein

• UniProt ID: Q86VW2
• Protein name: Rho guanine nucleotide exchange factor 25 (Guanine nucleotide exchange factor GEFT) (Rac/Cdc42/Rho exchange factor GEFT) (RhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT) (p63RhoGEF)
• Protein function: May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha
• PDB: 2RGN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	164 → 334	RhoGEF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are highly expressed in excitable tissues, such as brain, heart and muscle. Also detected in kidney and liver. {ECO:0000269|PubMed:11861769, ECO:0000269|PubMed:12547822, ECO:0000269|PubMed:15069594}.
• Sequence:

  MRGGHKGGRCACPRVIRKVLAKCGCCFARGGRESYSIAGSEGSISASAASGLAAPSGPSS
  GLSSGPCSPGPPGPVSGLRRWLDHSKHCLSVETEADSGQAGPYENWMLEPALATGEELPE
  LTLLTTLLEGPGDKTQPPEEETLSQAPESEEEQKKKALERSMYVLSELVETEKMYVDDLG
  QIVEGYMATMAAQGVPESLRGRDRIVFGNIQQIYEWHRDYFLQELQRCLKDPDWLAQLFI
  KHERRLHMYVVYCQNKPKSEHVVSEFGDSYFEELRQQLGHRLQLNDLLIKPVQRIMKYQL
  LLKDFLKYYNRAGMDTADLEQAVEVMCFVPKRCNDMMTLGRLRGFEGKLTAQGKLLGQDT
  FWVTEPEAGGLLSSRGRERRVFLFEQIIIFSEALGGGVRGGTQPGYVYKNSIKVSCLGLE
  GNLQGDPCRFALTSRGPEGGIQRYVLQAADPAISQAWIKHVAQILESQRDFLNALQSPIE
  YQRRESQTNSLGRPRGPGVGSPGRIQLGDQAQGSTHTPINGSLPSLLLSPKGEVARALLP
  LDKQALGDIPQAPHDSPPVSPTPKTPPCQARLAKLDEDEL

• Sequence length: 580

Pathways

Reactome:

G alpha (q) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Moyamoya angiopathy	Likely pathogenic	rs778066908	RCV004704489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	24551291		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	24356540		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23380069	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31620201		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	24551291		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	28840514		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24356540, 28840514		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24817957, 38225540	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31620201		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24743780, 31105995, 31761617		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24743780, 24817957, 38225540	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	24551291	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	24551291	Associate	★☆☆☆☆ Found in Text Mining only