FIG4 Gene

Aliases
for FIG4 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Previous GC identifers: GC06P110120 GC06P107578

Summaries
for FIG4 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Genomic Views
for FIG4 gene

(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)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000006.11  NT_025741.16  NC_018917.2  

SwitchGear Promoter luciferase reporter plasmid: FIG4 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FIG4

FIG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P110012:  view genomic region     (about GC identifiers)

Proteins
for FIG4 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

Explore the universe of human proteins at neXtProt for FIG4: NX_Q92562

Explore proteomics data for FIG4 at MOPED

Post-translational modifications: 

FIG4 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for FIG4 OriGene Protein Over-expression Lysate for FIG4 OriGene MassSpec for FIG4 OriGene Custom Protein Services for FIG4
	GenScript Custom Purified and Recombinant Proteins Services for FIG4
	Novus Biologicals FIG4 Protein Novus Biologicals FIG4 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for FIG4
	Search eBioscience for Proteins for FIG4
	Search GeneTex for Proteins for FIG4
	antibodies-online proteins for FIG4 (2 products)
	antibodies-online peptides for FIG4

FIG4 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies for FIG4 OriGene Custom Antibody Services for FIG4
	Novus Biologicals FIG4 Antibody
	Abcam antibodies for FIG4
	Cloud-Clone Corp. Antibodies for FIG4
	ThermoFisher Antibodies for FIG4
	antibodies-online antibodies for FIG4 (60 products)

FIG4 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for FIG4
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FIG4
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for FIG4 Cloud-Clone Corp. CLIAs for FIG4
	Search eBioscience for ELISAs for FIG4
	antibodies-online kits for FIG4 (2 products)

Domains /
Families
for FIG4 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

ProtoNet protein and cluster: Q92562

Find genes that share domains with FIG4           About GenesLikeMe

Function
for FIG4 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

     Enzyme Numbers (IUBMB): EC 3.1.3.36² EC 3.1.3² EC 3.1.3.-¹

     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

(inferred from 2 alleles) (MGI details for Fig4)

genOway: Develop your customized and physiologically relevant rodent model for FIG4

miRNA Products:		miRTarBase miRNAs that target FIG4: hsa-mir-26b-5p (MIRT030214), hsa-mir-335-5p (MIRT019027), hsa-mir-1 (MIRT024087)
		Block miRNA regulation of human, mouse, rat FIG4 using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate FIG4
		SwitchGear 3'UTR luciferase reporter plasmid: FIG4 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for FIG4
		Predesigned siRNA for gene silencing in human, mouse, rat FIG4

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for FIG4

Clone Products:		OriGene clones in human, mouse for FIG4 (see all 6) OriGene ORF clones in mouse, rat for FIG4 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FIG4 (NM_014845)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FIG4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FIG4

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FIG4
		Browse ESI BIO Cell Lines and PureStem Progenitors for FIG4

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4

Localization
for FIG4 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
endosome	5
golgi apparatus	4
cytosol	2
lysosome	2
nucleus	2
vacuole	2
endoplasmic reticulum	1
mitochondrion	1
peroxisome	1

About this image

Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for FIG4 gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for FIG4 About     See pathways by source

Powered by

	SuperPath	Contained pathways About
1	PI Metabolism	PI Metabolism 0.65 Synthesis of PIPs at the early endosome membrane 0.00 3-phosphoinositide biosynthesis 0.47 Synthesis of PIPs at the late endosome membrane 0.00 Synthesis of PIPs at the Golgi membrane 0.00
2	Metabolism	Metabolism 0.38 Metabolism of lipids and lipoproteins 0.37
3	Glycerophospholipid biosynthesis	Phospholipid metabolism 0.64
4	Inositol phosphate metabolism (KEGG)	superpathway of inositol phosphate compounds 0.60

2 BioSystems Pathways for FIG4

	3-phosphoinositide biosynthesis
	superpathway of inositol phosphate compounds

3 Reactome Pathways for FIG4

	Synthesis of PIPs at the late endosome membrane
	Synthesis of PIPs at the early endosome membrane
	Synthesis of PIPs at the Golgi membrane

Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

Drugs & Compounds
for FIG4 gene

(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, Sets of similar genes according to GenesLikeMe)
About This Section

Transcripts
for FIG4 gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

Expression
for FIG4 gene

(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 GenesLikeMe, 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)
About This Section

FIG4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TACCGAGAGT

About this image

Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
Nucleus Pulposus
Primitive Streak (Early Embryonic Tissues)
Notochord

Primer Products:		OriGene qPCR primer pairs and template standards for FIG4 OriGene qSTAR qPCR primer pairs in human, mouse for FIG4
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FIG4
		QuantiTect SYBR Green Assays in human, mouse, rat FIG4
		QuantiFast Probe-based Assays in human, mouse, rat FIG4

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FIG4

Orthologs
for FIG4 gene

(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)
About This Section

Paralogs
for FIG4 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Genomic Variants
for FIG4 gene

(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)
About This Section

Selected SNPs for FIG4 (see all 2737)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219082871,2,,4	C,F	Charcot-Marie-Tooth disease 4J (CMT4J)4 pathogenic1	110034464(+)	GAAGAT/CTGATA	2	/T /I	mis1		2		NA EU	5849
VAR_0548324		Amyotrophic lateral sclerosis 11 (ALS11)4	--	see VAR_054832	2	D Y	mis4		0	--	--	--	--
VAR_0700514		Yunis-Varon syndrome (YVS)4	--	see VAR_070051	2	G D	mis4		0	--	--	--	--
VAR_0700524		Yunis-Varon syndrome (YVS)4	--	see VAR_070052	2	L P	mis4		0	--	--	--	--
rs1219082881,2	C	pathogenic1	110054526(+)	TCTTGA/C/TGAATG	2	R *	stg1		0	--	--	--	--
rs716841001,2	C	--	107585277(+)	ATCAA-/T/TT           TTTTT	1	--	int1		1		CSA	2
rs2010126761,2	C	--	107585277(+)	ATCAA-/TTTTTTT	1	--	int1		0	--	--	--	--
rs94810001,2		--	107640363(+)	tttaaC/Tccatc	1	--	int1		0	--	--	--	--
rs1124808681,2	C,F	--	107640632(+)	ATGCGG/TTGTTA	1	--	int1		1		WA	2
rs93868401,2	C	--	107641366(+)	tgagaG/Tagggc	1	--	int1		1		NA	2

HapMap Linkage Disequilibrium report for FIG4 (110012424 - 110146634 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for FIG4:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv270954	CNV	Insertion	20981092
esv272669	CNV	Insertion	20981092
nsv5437	CNV	Insertion	18451855
nsv886533	CNV	Loss	21882294
nsv5436	CNV	Loss	18451855
nsv830769	CNV	Gain	17160897

Human Gene Mutation Database (HGMD): FIG4

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FIG4

DNA2.0 Custom Variant and Variant Library Synthesis for FIG4

Disorders / Diseases
for FIG4 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

Publications
for FIG4 gene

(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)
About This Section

1. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. (PubMed id 17572665)^{1, 2, 3} Chow C.Y....Meisler M.H. (Nature 2007)
2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)^{1, 2, 3} Nagase T.... Nomura N. (DNA Res. 1996)
3. Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. (PubMed id 23623387)^{1, 2} Campeau P.M....Lee B.H. (Am. J. Hum. Genet. 2013)
4. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)^{1, 4} Soranzo N....Gieger C. (Nat. Genet. 2009)
5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)^{1, 4} Trynka G....Wijmenga C. (Gut 2009)
6. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. (PubMed id 19118816)^{1, 2} Chow C.Y.... Meisler M.H. (Am. J. Hum. Genet. 2009)
7. ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality. (PubMed id 18950639)^{1, 2} Sbrissa D.... Shisheva A. (J. Mol. Biol. 2008)
8. Core protein machinery for mammalian phosphatidylinositol 3,5- bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. (PubMed id 17556371)^{1, 2} Sbrissa D....Shisheva A. (J. Biol. Chem. 2007)
9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (Nature 2003)

External Searches for FIG4 gene

Genome Databases showing FIG4 gene

Other Databases showing FIG4 gene

Specialized Databases showing FIG4 gene

Products
for FIG4 gene

(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, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section