PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4)

Gene

• Entrez ID: 25894
• Gene name: Pleckstrin homology and RhoGEF domain containing G4
• Gene symbol: PLEKHG4
• Synonyms (NCBI Gene): ARHGEF44, PRTPHN1, SCA4
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be ass

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018367	hsa-miR-335-5p	Microarray	18185580
MIRT022840	hsa-miR-124-3p	Microarray	18668037
MIRT043462	hsa-miR-331-3p	CLASH	23622248
MIRT038911	hsa-miR-93-3p	CLASH	23622248
MIRT712877	hsa-miR-3688-3p	HITS-CLIP	19536157
MIRT712876	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT712875	hsa-miR-767-3p	HITS-CLIP	19536157
MIRT712874	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT712873	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT712872	hsa-miR-4261	HITS-CLIP	19536157
MIRT712871	hsa-miR-346	HITS-CLIP	19536157
MIRT712870	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT712869	hsa-miR-4288	HITS-CLIP	19536157
MIRT712868	hsa-miR-632	HITS-CLIP	19536157
MIRT712877	hsa-miR-3688-3p	HITS-CLIP	19536157
MIRT712876	hsa-miR-654-3p	HITS-CLIP	19536157
MIRT712875	hsa-miR-767-3p	HITS-CLIP	19536157
MIRT712874	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT712873	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT712872	hsa-miR-4261	HITS-CLIP	19536157
MIRT712871	hsa-miR-346	HITS-CLIP	19536157
MIRT712870	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT712869	hsa-miR-4288	HITS-CLIP	19536157
MIRT712868	hsa-miR-632	HITS-CLIP	19536157
MIRT1241905	hsa-miR-377	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:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0019898	Component	Extrinsic component of membrane	IBA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 609526
• HGNC: 24501
• e!Ensembl: ENSG00000196155

Protein

• UniProt ID: Q58EX7
• Protein name: Puratrophin-1 (Pleckstrin homology domain-containing family G member 4) (PH domain-containing family G member 4) (Purkinje cell atrophy-associated protein 1)
• Protein function: Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	736 → 906	RhoGEF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at p
• Sequence:

  MERPLENGDESPDSQGHATDWRFAVCSFRDAWEEEEPASQMHVKDPGPPRPPAGATQDEE
  LQGSPLSRKFQLPPAADESGDAQRGTVESSSVLSEGPGPSGVESLLCPMSSHLSLAQGES
  DTPGVGLVGDPGPSRAMPSGLSPGALDSDPVGLGDPLSEISKLLEAAPSGSGLPKPADCL
  LAQDLCWELLASGMATLPGTRDVQGRAVLLLCAHSPAWLQSECSSQELIRLLLYLRSIPR
  PEVQALGLTVLVDARICAPSSSLFSGLSQLQEAAPGAVYQVLLVGSTLLKEVPSGLQLEQ
  LPSQSLLTHIPTAGLPTSLGGGLPYCHQAWLDFRRRLEALLQNCQAACALLQGAIESVKA
  VPQPMEPGEVGQLLQQTEVLMQQVLDSPWLAWLQCQGGRELTWLKQEVPEVTLSPDYRTA
  MDKADELYDRVDGLLHQLTLQSNQRIQALELVQTLEARESGLHQIEVWLQQVGWPALEEA
  GEPSLDMLLQAQGSFQELYQVAQEQVRQGEKFLQPLTGWEAAELDPPGARFLALRAQLTE
  FSRALAQRCQRLADAERLFQLFREALTWAEEGQRVLAELEQERPGVVLQQLQLHWTRHPD
  LPPAHFRKMWALATGLGSEAIRQECRWAWARCQDTWLALDQKLEASLKLPPVGSTASLCV
  SQVPAAPAHPPLRKAYSFDRNLGQSLSEPACHCHHAATIAACRRPEAGGGALPQASPTVP
  PPGSSDPRSLNRLQLVLAEMVATEREYVRALEYTMENYFPELDRPDVPQGLRGQRAHLFG
  NLEKLRDFHCHFFLRELEACTRHPPRVAYAFLRHRVQFGMYALYSKNKPRSDALMSSYGH
  TFFKDKQQALGDHLDLASYLLKPIQRMGKYALLLQELARACGGPTQELSALREAQSLVHF
  QLRHGNDLLAMDAIQGCDVNLKEQGQLVRQDEFVVRTGRHKSVRRIFLFEELLLFSKPRH
  GPTGVDTFAYKRSFKMADLGLTECCGNSNLRFEIWFRRRKARDTFVLQASSLAIKQAWTA
  DISHLLWRQAVHNKEVRMAEMVSMGVGNKAFRDIAPSEEAINDRTVNYVLKCREVRSRAS
  IAVAPFDHDSLYLGASNSLPGDPASCSVLGSLNLHLYRDPALLGLRCPLYPSFPEEAALE
  AEAELGGQPSLTAEDSEISSQCPSASGSSGSDSSCVSGQALGRGLEDLPCV

• Sequence length: 1191

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEKHG4-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 31	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 31	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 4	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	10072060, 10712199		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	12796826, 17357132		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	16491300		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	17805477	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	10822439		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	8559378		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	7581386		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	17357132		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 31	Spinocerebellar ataxia	Pubtator	20424877	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 31 (disorder)	Spinocerebellar Ataxia	BEFREE	20424877		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	ORPHANET_DG	18293026, 21267591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 4	Spinocerebellar Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	8755926	Associate	★☆☆☆☆ Found in Text Mining only