Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	25894
Gene name	Pleckstrin homology and RhoGEF domain containing G4
Gene symbol	PLEKHG4
Synonyms (NCBI Gene)	ARHGEF44PRTPHN1SCA4
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

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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

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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

MIM	HGNC	e!Ensembl
609526	24501	ENSG00000196155

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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (7)
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	18293026, 20301317, 21267591	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (14)
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

PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4)

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