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Set Analyses:

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PLEKHG5 Gene

protein-coding GIFtS: 53
GCID: GC01M006526

Pleckstrin Homology Domain Containing, Family G (With RhoGef...

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at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5¹ ²		KIAA0720³ ⁵
Synectin-Binding Guanine Exchange Factor¹ ²		Syx²
Guanine Nucleotide Exchange Factor 720² ³		Tech²
GEF720² ³		NFkB Activating Protein²
PH Domain-Containing Family G Member 5² ³		Novel PH Domain-Containing Protein²
CMTRIC² ⁵		Pleckstrin Homology Domain Containing Family G Member 5²
DSMA4² ⁵		Pleckstrin Homology Domain-Containing Family G Member 5²

External Ids:	HGNC: 29105¹	Entrez Gene: 57449²	Ensembl: ENSG00000171680⁷	OMIM: 611101⁵	UniProtKB: O94827³

Export aliases for PLEKHG5 gene to outside databases

Previous GC identifers: GC01M006462 GC01M005673

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PLEKHG5 Gene:

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this

gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for PLEKHG5 Gene:

PLEKHG5 (pleckstrin homology domain containing, family G (with RhoGef domain) member 5) is a protein-coding gene. Diseases associated with PLEKHG5 include spinal muscular atrophy, distal, autosomal recessive, 4, and distal spinal muscular atrophy 4. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG7.

UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827

Function: Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway.

Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of

endothelial cells chemotaxis

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000001.11 NC_018912.2 NT_032977.10

Regulatory elements:

Regulatory transcription factor binding sites in the PLEKHG5 gene promoter:
AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PLEKHG5 promoter sequence

Search Chromatin IP Primers for PLEKHG5

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLEKHG5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.31 Ensembl cytogenetic band: 1p36.31 HGNC cytogenetic band: 1p36.31

PLEKHG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLEKHG5 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M006526: view genomic region (about GC identifiers)

Start:	6,526,152 bp from pter	End:	6,580,121 bp from pter
Size:	53,970 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827 (See protein sequence)

Recommended Name: Pleckstrin homology domain-containing family G member 5

Size: 1062 amino acids; 117451 Da

Subunit: Interacts with GIPC1/synectin and RHOA (By similarity)

Sequence caution: Sequence=BAA34440.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=BAC77354.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAC85124.1;

Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

Secondary accessions: B3KU07 B7Z2M3 B7Z5X2 F5GZ21 F5H1I0 Q5SY17 Q5T8W5 Q5T8W9 Q6ZNM0 Q7Z436

Q86YD8 Q96BS1

Alternative splicing: 7 isoforms: O94827-1 O94827-2 O94827-3 O94827-4 O94827-5 O94827-6 O94827-7 (No experimental confirmation available. Ref.2 (BAH13058) sequence is in conflict in position: 38:D->E)

Explore the universe of human proteins at neXtProt for PLEKHG5: NX_O94827

Explore proteomics data for PLEKHG5 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PLEKHG5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (8 alternative transcripts):

NP_001036128.1 NP_001036129.1 NP_001036130.1 NP_001252521.1 NP_001252522.1 NP_001252523.1 NP_065682.2 NP_941374.2

ENSEMBL proteins:

ENSP00000366977 ENSP00000366954 ENSP00000366957 ENSP00000366961 ENSP00000383706

ENSP00000366969 ENSP00000439625 ENSP00000441445 ENSP00000344570 ENSP00000383704

ENSP00000366966 ENSP00000437710

Reactome Protein details: O94827

PLEKHG5 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PLEKH: Pleckstrin homology (PH) domain containing

3 InterPro protein domains:

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry O94827

ProtoNet protein and cluster: O94827

2 Blocks protein domains:

IPB000219 DH domain

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 PH domain

PLEKHG5 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PKHG5_HUMAN, O94827

Function: Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway.

Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of

endothelial cells chemotaxis

Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004871	signal transducer activity	IMP	12761501
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005515	protein binding	--	--

PLEKHG5 for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Plekhg5):

cardiovascular system

homeostasis/metabolism

integument

muscle

renal/urinary system

PLEKHG5 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Plekhg5^tm1.1Jbar for PLEKHG5

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLEKHG5

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		SwitchGear 3'UTR luciferase reporter plasmid: PLEKHG5 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PLEKHG5
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Gene Editing
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG5

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PKHG5_HUMAN, O94827: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cell junction (By

similarity). Cell projection, lamellipodium (By similarity). Note=Predominantly cytoplasmic, however when cells

are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it

relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells (By

similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	4
plasma membrane	2
nucleus	1

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Gene Ontology (GO): Selected cellular component terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	ISS	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IEA	--
GO:0005911	cell-cell junction	ISS	--
GO:0030027	lamellipodium	ISS	--

PLEKHG5 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PLEKHG5 About

See pathways by source

SuperPath

Contained pathways About

p75 NTR receptor-mediated signalling

	p75 NTR receptor-mediated signalling	0.74			NRAGE signals death through JNK	0.71
	Cell death signalling via NRAGE, NRIF and NADE	0.74			G alpha (12/13) signalling events	0.44

Signaling by GPCR

	Signaling by GPCR	0.90			Signal Transduction	0.58
	GPCR downstream signaling	0.90

Rho GTPase cycle

Rho GTPase cycle

1.00

Signaling by Rho GTPases

1.00

Signaling by FGFR

Signalling by NGF

0.71

Pathways by source See SuperPaths
Show all pathways

3 Reactome Pathways for PLEKHG5

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

PLEKHG5 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PLEKHG5
Interactions:

Search GeneGlobe Interaction Network for PLEKHG5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PLEKHG5 (ENSP00000366977⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 54)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARHGAP35	ENSP00000385720⁴	STRING: ENSP00000385720
ARHGEF1	ENSP00000337261⁴	STRING: ENSP00000337261
OPHN1	ENSP00000347710⁴	STRING: ENSP00000347710
PIK3R2	ENSP00000222254⁴	STRING: ENSP00000222254
A2M	ENSP00000323929⁴	STRING: ENSP00000323929

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Gene Ontology (GO): Selected biological process terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0035023	regulation of Rho protein signal transduction	--	--
GO:0035767	endothelial cell chemotaxis	ISS	--
GO:0043065	positive regulation of apoptotic process	TAS	--
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	12761501

PLEKHG5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PLEKHG5 (PKHG5)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PLEKHG5 gene (8 alternative transcripts):

NM_001042663.1 NM_001042664.1 NM_001042665.1 NM_001265592.1 NM_001265593.1 NM_001265594.1 NM_020631.4 NM_198681.3

Unigene Cluster for PLEKHG5:

Pleckstrin homology domain containing, family G (with RhoGef domain) member 5

Hs.284232 [show with all ESTs]

Unigene Representative Sequence: NM_198681

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000489097(uc009vma.1) ENST00000377748(uc001ann.1 uc001ano.1 uc001anq.1 uc001anp.1)

ENST00000487949 ENST00000377725 ENST00000377728 ENST00000377732 ENST00000400915

ENST00000377740 ENST00000537245 ENST00000535355 ENST00000340850(uc009vmb.1 uc001anl.1)

ENST00000400913(uc001anj.1 uc010nzr.1 uc001ank.1 uc001anm.1)

ENST00000377737 ENST00000544978

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		Selected qRT-PCR Assays for microRNAs that regulate PLEKHG5 (see all 12):
		hsa-miR-3163 hsa-miR-642a hsa-miR-663 hsa-miR-1908 hsa-miR-340 hsa-miR-3133 hsa-miR-650 hsa-miR-744

		SwitchGear 3'UTR luciferase reporter plasmid: PLEKHG5 3' UTR sequence

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		QuantiFast Probe-based Assays in human, mouse, rat PLEKHG5

Additional mRNA sequence:

AB018263.2 AB097001.1 AK024676.1 AK096347.1 AK125550.1 AK294875.1 AK299523.1 AK301239.1

BC015231.1 BC036671.2

16 DOTS entries:

DT.97763290 DT.92431005 DT.86847340 DT.101984073 DT.100790315 DT.95177003 DT.100779737 DT.95268062

DT.100779738 DT.100779736 DT.121426112 DT.121426128 DT.121426129 DT.91981409 DT.40258074 DT.95268043

Selected AceView cDNA sequences (see all 180):

U94507 NM_003790 Z39975 U94501 NM_148971 AK125550 BM770798 NM_148967

BF002663 U74611 BM783972 BM783979 BM850652 AB018263 U94510 BM792178

U72763 NM_148970 AA326431 NM_148966 U94503 U94506 U94509 NM_148973

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHG5 (see all 17) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11a	·	11b
SP1:									-		-				-										-		-		-				-								-
SP2:									-		-				-										-		-														-
SP3:									-		-				-										-		-		-				-		-		-				-
SP4:									-		-				-										-		-		-												-
SP5:									-		-				-										-		-		-		-		-								-

ECgene alternative splicing isoforms for PLEKHG5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PLEKHG5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGCCGGATGC

About this image

PLEKHG5 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Blood (Hematopoietic System)
T Helper Cells Peripheral Blood

PLEKHG5 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PLEKHG5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.284232

UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827

Tissue specificity: Predominantly expressed in the peripheral nervous system and brain. Highest expression is

observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle,

ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines

Custom PCR Arrays for PLEKHG5

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLEKHG5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for PLEKHG5 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Plekhg5^{1 , 5}	pleckstrin homology domain containing, family G (with more^{1, 5}	84.28(n)¹ 86.57(a)¹		4 (82.86 cM)⁵ 269608¹ NM_001285999.1¹ NP_001272928.1¹ 152072498⁵
chicken (Gallus gallus)	Aves	PLEKHG5¹	pleckstrin homology domain containing, family G (with more	74.63(n) 73.31(a)		426013 XM_423692.4 XP_423692.4
tropical clawed frog (Xenopus tropicalis)	Amphibia	plekhg5¹	pleckstrin homology domain containing, family G (with more	66.16(n) 70.8(a)		100496612 XM_002933857.2 XP_002933903.2
zebrafish (Danio rerio)	Actinopterygii	LOC796404¹	pleckstrin homology domain-containing family G member more	63.52(n) 58.28(a)		796404 XM_002666521.3 XP_002666567.3
fruit fly (Drosophila melanogaster)	Insecta	CG42674⁶	--	13(a)	1 → many	3L(20142714-20191417)
worm (Caenorhabditis elegans)	Secernentea	rhgf-2⁶	Protein RHGF-2 (rhgf-2) mRNA, complete cds	18(a)	1 → many	II(4107219-4127849) WBGene00006476

ENSEMBL Gene Tree for PLEKHG5 (if available)
TreeFam Gene Tree for PLEKHG5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PLEKHG5 gene

PLEKHG7² PLEKHG6²

2 SIMAP similar genes for PLEKHG5 using alignment to 2 protein entries: PKHG5_HUMAN (see all proteins):

PLEKHG6 ARHGEF16

PLEKHG5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_070217⁴		Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)⁴	--	see VAR_070217	2	T M	mis⁴		0	--	--	--	--
VAR_035357⁴		Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)⁴	--	see VAR_035357	2	F S	mis⁴		0	--	--	--	--
VAR_070218⁴		Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)⁴	--	see VAR_070218	2	G R	mis⁴		0	--	--	--	--
rs63750315^1,2	C	pathogenic¹	6546873(-)	`GTCCTC/TCCTCC`	16	S F	mis¹		0	--	--	--	--
rs4908902^1,2	C	--	5724711(+)	`CACACC/ACACAT`	1	--	int¹		5		WA NA CSA	126
rs58444261^1,2	C	--	6539101(+)	`TGCTTT/-CTCTC`	8	--	int¹		1		NA	2
rs58083180^1,2	C	--	6540589(+)	`AAAAA-/ATTAGC`	8	--	int¹		0	--	--	--	--
rs202091933^1,2	C	--	6541922(+)	`AAAAA-/AGCCAA`	8	--	int¹		0	--	--	--	--
rs79096621^1,2		--	6543111(+)	`GCCCCA/GGGCAG`	8	--	ds500¹		0	--	--	--	--
rs45626039^1,2	C,F	--	6543194(-)	`GGGCTG/CGTAAG`	8	--	ds500¹		3		NS CSA WA	296

HapMap Linkage Disequilibrium report for PLEKHG5 (6526152 - 6580121 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for PLEKHG5 (see all 18): About this table

Variant ID	Type	Subtype	PubMed ID
nsv508836	CNV	Insertion	20534489
nsv1187	CNV	Insertion	18451855
nsv470691	CNV	Loss	18288195
nsv871698	CNV	Loss	21882294
nsv462061	CNV	Loss	19166990
nsv871719	CNV	Loss	21882294
nsv870465	CNV	Loss	21882294
dgv127n71	CNV	Loss	21882294
dgv119n71	CNV	Loss	21882294
dgv125n71	CNV	Loss	21882294

Human Gene Mutation Database (HGMD): PLEKHG5

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611101
OMIM disorders: 611067 615376
UniProtKB/Swiss-Prot: PKHG5_HUMAN, O94827

Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A neuromuscular disorder.

Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous

group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the

spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical

distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and

wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and

atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is

characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation.

Bulbar symptoms and pyramidal signs are absent. Note=The disease is caused by mutations affecting the gene

represented in this entry

Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A form of

Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness

and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive

intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features

intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction

velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in

this entry

10 diseases for PLEKHG5:
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spinal muscular atrophy, distal, autosomal recessive, 4 distal spinal muscular atrophy 4 charcot-marie-tooth disease, recessive intermediate c spinal muscular atrophy

muscular atrophy motor neuron disease neuronitis endotheliitis

multiple myeloma myeloma

PLEKHG5 for disorders About GeneDecksing

Genetic Association Database (GAD): PLEKHG5
Human Genome Epidemiology (HuGE) Navigator: PLEKHG5 (2 documents)

Export disorders for PLEKHG5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PLEKHG5 gene, integrated from 10 sources (see all 24):
(articles sorted by number of sources associating them with PLEKHG5)

Utopia: connect your pdf to the dynamic
world of online information

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. (PubMed id 17564964)^{1, 2, 3} Maystadt I....Verellen-Dumoulin C. (Am. J. Hum. Genet. 2007)
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. (PubMed id 23844677)^{1, 2} Kim H.J....Choi B.O. (Orphanet J Rare Dis 2013)
Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)^{1, 4} Hosgood H.D....Lan Q. (Occup Environ Med 2009)
Common variants at ten loci influence QT interval duration in the QTGEN Study. (PubMed id 19305408)^{1, 4} Newton-Cheh C.... Stricker B.H. (Nat. Genet. 2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)^{1, 2} Matsuda A....Sugano S. (Oncogene 2003)
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)^{1, 2} Nagase T.... Ohara O. (DNA Res. 1998)
The Rho guanine nucleotide exchange factor Syx regulates the balance of dia and ROCK activities to promote polarized-cancer-cell migration. (PubMed id 24126053)¹ Dachsel J.C....Anastasiadis P.Z. (Mol. Cell. Biol. 2013)
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. (PubMed id 23777631)² Azzedine H....Chrast R. (Hum. Mol. Genet. 2013)
Phosphorylation-mediated 14-3-3 protein binding regulates the function of the rho-specific guanine nucleotide exchange factor (RhoGEF) Syx. (PubMed id 23335514)¹ Ngok S.P....Anastasiadis P.Z. (J. Biol. Chem. 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57449	HGNC: 29105	AceView: TNFRSF25andKIAA0720	Ensembl:ENSG00000171680	euGenes: HUgn57449
ECgene: PLEKHG5	H-InvDB: PLEKHG5

(According to HUGE)
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HUGE: KIAA0720

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PLEKHG5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PLEKHG5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PLEKHG5 gene:
Search GeneIP for patents involving PLEKHG5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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PLEKHG5 Gene

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