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
• Disease Acronyms (UniProt): 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	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0050790	Process	Regulation of catalytic activity	IEA

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

Causal
Disease term	Disease name	dbSNP ID	References
Spinocerebellar ataxia	Spinocerebellar Ataxia Type 4, Spinocerebellar ataxia type 4	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	21267591, 18293026

Associations from Text Mining
Disease Name	Relationship Type	References
Cerebellar Ataxia	Associate	17805477
Spinocerebellar Ataxia 31	Associate	20424877
Spinocerebellar Ataxias	Associate	8755926