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FIG4 Gene

protein-coding GIFtS: 63
GCID: GC06P110012

FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S....

(Previous names: KIAA0274, FIG4 homolog (S. cerevisiae))
(Previous symbol: KIAA0274)

Alzheimer's & Parkinson's Diseases Congress

See related diseases
at

MalaCards

(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
FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. Cerevisiae)¹ ²		dJ249I4.1²
KIAA0274¹ ² ³ ⁵		FIG4 Homolog, SAC Domain Containing Lipid Phosphatase²
SAC3² ³ ⁵		FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase²
Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase² ³		Polyphosphoinositide Phosphatase²
SAC Domain-Containing Protein 3² ³		Sac Domain-Containing Inositol Phosphatase 3²
ALS11² ⁵		EC 3.1.3.-³
YVS² ⁵		EC 3.1.3⁸
FIG4 Homolog (S. Cerevisiae)¹		EC 3.1.3.36⁸
CMT4J²

External Ids:	HGNC: 16873¹	Entrez Gene: 9896²	Ensembl: ENSG00000112367⁷	OMIM: 609390⁵	UniProtKB: Q92562³

Export aliases for FIG4 gene to outside databases

Previous GC identifers: GC06P110120 GC06P107578

(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 FIG4 Gene:

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain,

approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess

phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various

phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi

function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules

and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with

Charcot-Marie-Tooth disease, type 4J. (provided by RefSeq, Jul 2008)

GeneCards Summary for FIG4 Gene:

FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)) is a protein-coding gene. Diseases associated with FIG4 include amyotrophic lateral sclerosis type 11, and pulsating exophthalmos. GO annotations related to this gene include phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity and phosphatidylinositol-3-phosphatase activity.

UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562

Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol

3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide

substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of

endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes

Gene Wiki entry for FIG4 (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)
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RefSeq DNA sequence:

NC_000006.12 NT_025741.16 NC_018917.2

Regulatory elements:

Regulatory transcription factor binding sites in the FIG4 gene promoter:
HOXA9 HOXA9B Sp1 Meis-1b c-Myb Meis-1a NF-Y Meis-1 CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FIG4 promoter sequence

Search Chromatin IP Primers for FIG4

Epigenetics:

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

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

Entrez Gene cytogenetic band: 6q21 Ensembl cytogenetic band: 6q21 HGNC cytogenetic band: 6q21

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

GeneLoc information about chromosome 6 GeneLoc Exon Structure

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

Start:	110,012,424 bp from pter	End:	110,146,634 bp from pter
Size:	134,211 bases	Orientation:	plus 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: FIG4_HUMAN, Q92562 (See protein sequence)

Recommended Name: Polyphosphoinositide phosphatase

Size: 907 amino acids; 103635 Da

Subunit: Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14.

VAC14 nucleates the assembly of the complex and serves as a scaffold

Sequence caution: Sequence=BAA13403.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q53H49 Q5TCS6

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

Explore proteomics data for FIG4 at MOPED

Post-translational modifications:

Ubiquitination² at Lys379

Modification sites at PhosphoSitePlus

2 DME Specific Peptides for FIG4 (Q92562)

TLIARRS

DCLDRTN

See FIG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055660.1

ENSEMBL proteins:

ENSP00000230124 ENSP00000412156 ENSP00000357937 ENSP00000405660 ENSP00000396566

ENSP00000399443

Reactome Protein details: Q92562

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

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
	LSBio Antibodies in human, mouse, rat for FIG4

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

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

IPR002013 Syja_N

Graphical View of Domain Structure for InterPro Entry Q92562

ProtoNet protein and cluster: Q92562

1 Blocks protein domain: IPB002013 Synaptojanin

UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562

Similarity: Contains 1 SAC domain

FIG4 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: FIG4_HUMAN, Q92562

Function: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol

3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide

substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of

endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004438	phosphatidylinositol-3-phosphatase activity	IEA	--
GO:0005515	protein binding	IPI	17556371
GO:0034593	phosphatidylinositol bisphosphate phosphatase activity	--	--
GO:0042578	phosphoric ester hydrolase activity	--	--
GO:0043812	phosphatidylinositol-4-phosphate phosphatase activity	IEA	--

FIG4 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for FIG4:

Decreased NANOG protein expres

Decreased OCT4 protein express

Decreased POU5F1-GFP protein e

13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fig4):

behavior/neurological	cardiovascular system	craniofacial	growth/size/body	hematopoietic system
immune system	integument	limbs/digits/tail	mortality/aging	muscle
nervous system	pigmentation	skeleton

FIG4 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FIG4

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FIG4

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FIG4

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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

(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

FIG4_HUMAN, Q92562: Endosome membrane. Note=Localization requires VAC14 and PIKFYVE

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	TAS	--
GO:0010008	endosome membrane	IDA	17556371
GO:0031901	early endosome membrane	TAS	--
GO:0031902	late endosome membrane	TAS	--

FIG4 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 FIG4 About

See pathways by source

SuperPath

Contained pathways About

PI Metabolism

PI Metabolism	0.65	Synthesis of PIPs at the Golgi membrane	0.00
3-phosphoinositide biosynthesis	0.47	Synthesis of PIPs at the early endosome membrane	0.00
Synthesis of PIPs at the late endosome membrane	0.00

Metabolism

Metabolism

0.38

Metabolism of lipids and lipoproteins

0.37

Glycerophospholipid biosynthesis

Phospholipid metabolism

0.64

Inositol phosphate metabolism (KEGG)

superpathway of inositol phosphate compounds

0.60

Pathways by source See SuperPaths
Show all pathways

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

FIG4 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FIG4
Interactions:

Search GeneGlobe Interaction Network for FIG4

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

Selected Interacting proteins for FIG4 (Q92562^{2, 3} ENSP00000230124⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VAC14	Q08AM6²^,³, ENSP00000261776⁴	MINT-7277770 I2D: score=6 STRING: ENSP00000261776
WIPI1	Q5MNZ9³, ENSP00000262139⁴	I2D: score=1 STRING: ENSP00000262139
PIKFYVE	Q9Y2I7³, ENSP00000264380⁴	I2D: score=2 STRING: ENSP00000264380
SACM1L	Q9NTJ5³, ENSP00000373713⁴	I2D: score=1 STRING: ENSP00000373713
ASF1A	Q9Y294³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006661	phosphatidylinositol biosynthetic process	TAS	--
GO:0007033	vacuole organization	IEA	--
GO:0007626	locomotory behavior	IEA	--
GO:0008219	cell death	IEA	--

FIG4 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 FIG4

(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 FIG4 gene:

NM_014845.5

Unigene Cluster for FIG4:

FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)

Hs.529959 [show with all ESTs]

Unigene Representative Sequence: NM_014845

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

ENST00000230124(uc003ptt.2) ENST00000454215 ENST00000368941 ENST00000415980

ENST00000419951 ENST00000441478(uc011eau.1)

miRNA Products:		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

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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FIG4
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FIG4

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

Additional mRNA sequence:

AK222732.1 AK291671.1 AK293422.1 BC041338.2 D87464.1

6 DOTS entries:

DT.315436 DT.70102370 DT.86754437 DT.86837335 DT.87012847 DT.91984338

Selected AceView cDNA sequences (see all 161):

AA970898 BM995726 BI859069 BX097795 CA435313 CB850665 BX486626 CA437103

CD673374 BI520379 BU734141 NM_014845 BM709652 BF902555 AL547153 AU131753

CD366932 CR624197 CD626225 D87464 AL540294 AI675390 AW450140 BM551463

GeneLoc Exon Structure

(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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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

FIG4 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


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

FIG4 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FIG4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.529959

Custom PCR Arrays for FIG4

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 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 eukaryotes.

Orthologs for FIG4 gene from Selected species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fig4^{1 , 5}	FIG4 homolog (S. cerevisiae)^{1, 5}	87.17(n)¹ 95.15(a)¹		10 (22.08 cM)⁵ 103199¹ NM_133999.1¹ NP_598760.1¹ 41188172⁵
chicken (Gallus gallus)	Aves	FIG4¹	FIG4 homolog, SAC1 lipid phosphatase domain containing more	79.66(n) 89.25(a)		421762 NM_001114623.1 NP_001108095.1
lizard (Anolis carolinensis)	Reptilia	FIG4⁶	FIG4 homolog, SAC1 lipid phosphatase domain contai...	90(a)	1 ↔ 1	1(191256604-191325261)
tropical clawed frog (Xenopus tropicalis)	Amphibia	fig4¹	FIG4 homolog, SAC1 lipid phosphatase domain containing	74.75(n) 81.64(a)		100379892 XM_004914860.1 XP_004914917.1
zebrafish (Danio rerio)	Actinopterygii	fig4¹	FIG4 homolog, SAC1 lipid phosphatase domain containing more	67.95(n) 74.32(a)		100334605 XM_002667219.3 XP_002667265.3
fruit fly (Drosophila melanogaster)	Insecta	CG17840¹	CG17840	50.51(n) 46.96(a)		33658 NM_134997.4 NP_608841.1
worm (Caenorhabditis elegans)	Secernentea	C34B7.2⁶	Protein C34B7.2 (C34B7.2) mRNA, complete cds	34(a)	1 ↔ 1	I(8336982-8341826) WBGene00007912
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	FIG4(YNL325C)⁴ FIG4¹	Phosphatidylinositol 3,5-bisphosphate (PtdIns[3,5]P) more⁴ FIG4¹	52.63(n)¹ 45.14(a)¹		14(31378-28739)⁴ 855392^{1, 4} NP_014074.1^{1, 4}
rice (Oryza sativa)	Liliopsida	AK070888.1²	--	75.31(n)		AK070888.1

ENSEMBL Gene Tree for FIG4 (if available)
TreeFam Gene Tree for FIG4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(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 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908287^1,2,,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	--	--	--	--
rs121908288^1,2	C	pathogenic¹	110054526(+)	`TCTTGA/C/TGAATG`	2	R *	stg¹		0	--	--	--	--
rs71684100^1,2	C	--	107585277(+)	`ATCAA-/T/TT TTTTT`	1	--	int¹		1		CSA	2
rs201012676^1,2	C	--	107585277(+)	`ATCAA-/TTTTTTT`	1	--	int¹		0	--	--	--	--
rs9481000^1,2		--	107640363(+)	`tttaaC/Tccatc`	1	--	int¹		0	--	--	--	--
rs112480868^1,2	C,F	--	107640632(+)	`ATGCGG/TTGTTA`	1	--	int¹		1		WA	2
rs9386840^1,2	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

(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: 609390
OMIM disorders: 611228 612577 216340
UniProtKB/Swiss-Prot: FIG4_HUMAN, Q92562

Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A recessive demyelinating 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. Charcot-Marie-Tooth

disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:

primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary

peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve

conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations

on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow

feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

Note=The disease is caused by mutations affecting the gene represented in this entry

Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A neurodegenerative disorder affecting upper motor

neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.

Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal

tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and

deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be

multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

Note=The disease is caused by mutations affecting the gene represented in this entry

Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal

defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal

loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal

in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry

Selected diseases for FIG4 (see all 22):
About MalaCards

amyotrophic lateral sclerosis type 11 pulsating exophthalmos charcot-marie-tooth neuropathy type 4j exophthalmos

lateral sclerosis yunis varon syndrome fig4-related amyotrophic lateral sclerosis cavernous sinus thrombosis

charcot-marie-tooth neuropathy type 4 charcot-marie-tooth disease type 4 amyotrophic lateral sclerosis tooth disease

charcot-marie-tooth disease axonal neuropathy sinusitis tremor

neuropathy myopathy multiple myeloma myeloma

2 diseases from the University of Copenhagen DISEASES database for FIG4:

Neuropathy Myopathy

FIG4 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
GeneTests: FIG4
GeneReviews: FIG4
Genetic Association Database (GAD): FIG4
Human Genome Epidemiology (HuGE) Navigator: FIG4 (4 documents)

Export disorders for FIG4 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 FIG4 gene, integrated from 10 sources (see all 29):
(articles sorted by number of sources associating them with FIG4)

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

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)
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)
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)
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)
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)
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)
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)
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)
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)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (Nature 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 9896	HGNC: 16873	AceView: KIAA0274	Ensembl:ENSG00000112367	euGenes: HUgn9896
ECgene: FIG4	H-InvDB: FIG4

(According to HUGE)
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HUGE: KIAA0274

(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 FIG4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FIG4 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 FIG4 gene:
Search GeneIP for patents involving FIG4

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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S....

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FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S....

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FIG4 Human Recombinant Protein Products:

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