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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SYNJ2 Gene

protein-coding GIFtS: 61
GCID: GC06P158402

synaptojanin 2

Explore 7 diseases affiliated with
SYNJ2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Synaptojanin 2¹ ²		KIAA0348³ ⁵
INPP5H¹ ²		Inositol Phosphate 5'-Phosphatase 2²
Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 2² ³		Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 2²
EC 3.1.3.36³ ⁸		Synaptojanin-2¹

External Ids:	HGNC: 11504¹	Entrez Gene: 8871²	Ensembl: ENSG00000078269⁷	OMIM: 609410⁵	UniProtKB: O15056³

Export aliases for SYNJ2 gene to outside databases

Previous GC identifers: GC06P157842 GC06P158276 GC06P158312 GC06P158373 GC06P158322 GC06P155875

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

Entrez Gene summary for SYNJ2:

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the

ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane

where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants.

(provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056

Function: Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction

pathways. May mediate the inhibitory effect of Rac1 on endocytosis

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_025741.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for SYNJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SYNJ2 promoter sequence

Search SABiosciences Chromatin IP Primers for SYNJ2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNJ2

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

Entrez Gene cytogenetic band: 6q25.3 Ensembl cytogenetic band: 6q25.3 HGNC cytogenetic band: 6q25.3

SYNJ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYNJ2 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P158402: view genomic region (about GC identifiers)

Start:	158,402,888 bp from pter	End:	158,520,208 bp from pter
Size:	117,321 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056 (See protein sequence)

Recommended Name: Synaptojanin-2

Size: 1496 amino acids; 165538 Da

Subunit: Binds to GRB2. Isoform 2A binds to SYNJ2BP/OMP25. Isoform 2B2 C-terminal proline-rich region binds to a

variety of SH3 domain-containing proteins including SH3GL1, SH3GL2, SH3GL3 and GRB2

Subcellular location: Membrane (By similarity). Note=Predominantly associated with the particulate fractions (By

similarity)

Sequence caution: Sequence=AAH43277.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for SYNJ2:

1UFW (3D)

Secondary accessions: Q5TA13 Q5TA16 Q5TA19 Q86XK0 Q8IZA8 Q9H226

Alternative splicing: 3 isoforms: O15056-1 O15056-2 O15056-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYNJ2: NX_O15056

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15056

4/11 DME Specific Peptides for SYNJ2 (O15056) (see all 11)

ALEGKAK

DCLDRTN

PFIRDVA

EANAPAF

SYNJ2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001171559.1 NP_003889.1

ENSEMBL proteins:

ENSP00000347792 ENSP00000356080 ENSP00000411202 ENSP00000436657 ENSP00000356079

ENSP00000356089 ENSP00000356088 ENSP00000388371

Reactome Protein details: O15056
Human Recombinant Protein Products for SYNJ2:

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	Uscn Proteins for SYNJ2

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005626	insoluble fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--
GO:0005881	cytoplasmic microtubule	--	--
GO:0016020	membrane	IEA	--

SYNJ2 for ontologies About GeneDecksing

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

SYNJ2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR005135 Endo/exonuclease/phosphatase

IPR002013 Syja_N

IPR000300 IPPc

IPR000504 RRM_dom

IPR012677 Nucleotide-bd_a/b_plait

Graphical View of Domain Structure for InterPro Entry O15056

ProtoNet protein and cluster: O15056

3 Blocks protein families:

IPB000300 Inositol polyphosphate related phosphatase family

IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

IPB002013 Synaptojanin

UniProtKB/Swiss-Prot: SYNJ2_HUMAN, O15056

Similarity: Belongs to the synaptojanin family

Similarity: In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family

Similarity: Contains 1 RRM (RNA recognition motif) domain

Similarity: Contains 1 SAC domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SYNJ2_HUMAN, O15056

Function: Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction

pathways. May mediate the inhibitory effect of Rac1 on endocytosis

Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol

4-phosphate + phosphate

Enzyme Number (IUBMB): EC 3.1.3.36¹ ²

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--
GO:0004437	inositol or phosphatidylinositol phosphatase activity	--	--
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA	--

SYNJ2 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for SYNJ2:

Decreased focal adhesion (FA)

Increased cell number in S and

Increased gamma-H2AX phosphory

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Synj2):

behavior/neurological

hearing/vestibular/ear

nervous system

SYNJ2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SYNJ2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNJ2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

D-myo-inositol (1,3,4)-trisphosphate biosynthesis

D-myo-inositol (1,3,4)-trisphosphate biosynthesis	1.00	D-myo-inositol (1,4,5)-trisphosphate degradation	0.40
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)	0.76	3-phosphoinositide degradation	0.33
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism	0.75

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Inositol phosphate metabolism

	Inositol phosphate metabolism	1.00			Phosphatidylinositol signaling system	0.59
	superpathway of inositol phosphate compounds	0.59

PI Metabolism

PI Metabolism

1.00

Synthesis of PIPs at the plasma membrane

0.66

Glycerophospholipid biosynthesis

Phospholipid metabolism

0.64

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for SYNJ2 (see all 6)

	D-myo-inositol (1,4,5)-trisphosphate degradation
	D-myo-inositol (1,3,4)-trisphosphate biosynthesis
	1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
	superpathway of inositol phosphate compounds
	3-phosphoinositide degradation

5 Reactome Pathways for SYNJ2

	Metabolism
	Synthesis of PIPs at the plasma membrane
	Phospholipid metabolism
	Metabolism of lipids and lipoproteins
	PI Metabolism

3 Kegg Pathways (Kegg details for SYNJ2):

	Inositol phosphate metabolism
	Metabolic pathways
	Phosphatidylinositol signaling system

SYNJ2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SYNJ2

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

5/93 Interacting proteins for SYNJ2 (O15056^{1, 2, 3} ENSP00000347792⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH3KBP1	Q96B97²^,³, ENSP00000380921⁴	MINT-8109855 MINT-8109868 MINT-8109881 I2D: score=1 STRING: ENSP00000380921
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110827 I2D: score=3 STRING: ENSP00000361423
PIK3R1	P27986²^,³, ENSP00000274335⁴	MINT-8112315 I2D: score=3 STRING: ENSP00000274335
PARP2	Q9UGN5²^,³, ENSP00000250416⁴	MINT-8202203 I2D: score=1 STRING: ENSP00000250416
SFN	P31947²^,³	MINT-3976105 I2D: score=2

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006661	phosphatidylinositol biosynthetic process	TAS	--
GO:0007420	brain development	--	--
GO:0044281	small molecule metabolic process	TAS	--
GO:0046854	phosphatidylinositol phosphorylation	IEA	--

SYNJ2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SYNJ2

3 HMDB Compounds for SYNJ2 About this table

Compound	Synonyms	CAS #	PubMed Ids
1-Phosphatidyl-D-myo-inositol	1-Phosphatidyl-1D-myo-inositol (see all 6)	--	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

Search CenterWatch for drugs/clinical trials and news about SYNJ2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SYNJ2 gene (2 alternative transcripts):

NM_001178088.1 NM_003898.3

Unigene Cluster for SYNJ2:

Synaptojanin 2

Hs.434494 [show with all ESTs]

Unigene Representative Sequence: NM_003898

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

ENST00000355585(uc003qqx.2 uc003qqy.2 uc003qqz.2 uc003qra.2)

ENST00000367113 ENST00000449320 ENST00000485863 ENST00000367112 ENST00000367122

ENST00000367121(uc011efm.2 uc003qqw.2) ENST00000449859(uc011efn.1 uc010kjo.1)

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		SwitchGear 3'UTR luciferase reporter plasmid: SYNJ2 3' UTR sequence

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Additional cDNA sequence:

AB002346.2 AF039945.1 AF086449.1 AF318616.1 AK026758.1 AK074294.1 AK294480.1 AK296242.1

AK296935.1 AK309018.1 AL157424.1 AY152396.1 BC042971.2 BC043277.2 BX648749.1

16 DOTS entries:

DT.95165899 DT.91796855 DT.213330 DT.95302482 DT.91902596 DT.65285050 DT.100646296 DT.200557

DT.91673119 DT.95123641 DT.95222681 DT.40114375 DT.97796462 DT.99933574 DT.121393252 DT.92019933

24/138 AceView cDNA sequences (see all 138):

CF264776 BM556283 AA722646 AF039945 BU528223 AW021035 BM555844 BQ010337

BQ897614 CR615784 CA427486 BM756160 AY152396 CA843516 CA450042 BM840757

BI491987 BM847554 BM999429 BE348342 BF431822 BE379911 AB002346 AI014555

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ2 (see all 16) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	^	7	^	8a	·	8b	·	8c	·	8d	^	9	^	10	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17a	·
SP1:
SP2:
SP3:			-		-		-		-				-								-
SP4:							-		-				-		-		-		-		-										-		-
SP5:							-		-				-

ExUns:	17b	·	17c	^	18	^	19	^	20a	·	20b	^	21	^	22a	·	22b	·	22c	^	23	^	24a	·	24b	·	24c	^	25	^	26a	·	26b	^	27	^	28	^	29	^	30
SP1:													-														-		-
SP2:																											-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SYNJ2

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SYNJ2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SYNJ2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SYNJ2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SYNJ2

SOURCE GeneReport for Unigene cluster: Hs.434494

SABiosciences Custom PCR Arrays for SYNJ2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SYNJ2 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

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(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

This gene was present in the common ancestor of animals.

Orthologs for SYNJ2 gene from 3/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SYNJ2¹	synaptojanin 2	71.33(n) 73.68(a)		421656 XM_003640916.1 XP_003640964.1
lizard (Anolis carolinensis)	Reptilia	SYNJ2⁶ --	--	67(a) 12(a)	1 ↔ 1 possible ortholog	1(213021142-213093263) AAWZ02040377(41-7022)
worm (Caenorhabditis elegans)	Secernentea	unc-26⁶	UNCoordinated family member (unc-26)	36(a)	1 ↔ 1	IV(13261532-13272490)

ENSEMBL Gene Tree for SYNJ2 (if available)
TreeFam Gene Tree for SYNJ2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SYNJ2 gene

INPP5B² INPP5J² SYNJ1² INPP5D² OCRL² INPP5K² INPP5E² INPPL1²

1 SIMAP similar gene for SYNJ2 using alignment to 6 protein entries: SYNJ2_HUMAN (see all proteins):

SYNJ1

SYNJ2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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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
				--	--	--		--	--
rs77527337^1,2		--	155873446(+)	`CTTGAG/CTCTGA`	1	--	us2k¹		2		CSA WA	119
rs73014129^1,2	C	--	155873455(+)	`GAGACA/GTGCAT`	1	--	us2k¹		0	--	--	--	--
rs11759210^1,2	C,H	--	155873580(+)	`ATGGTG/CACTTG`	1	--	us2k¹		5		NS EA NA	478
rs75237676^1,2		--	155874217(+)	`CTTGGC/TTCTGG`	1	--	us2k¹		0	--	--	--	--
rs9456934^1,2	C	--	155875107(+)	`TCCACT/GCCCGC`	1	--	us2k¹		1		NA	2
rs113638914^1,2	C	--	155875114(+)	`CCGCCT/CGCGGG`	1	--	us2k¹		2		WA NA	122
rs73014130^1,2	C	--	155876091(+)	`TTAGAT/CCCTGC`	1	--	int¹		1		NA	120
rs12665317^1,2	H	--	155876150(+)	`ttgtgA/Ctatgg`	1	--	int¹		0	--	--	--	--
rs73792021^1,2	C	--	155876301(+)	`CTGTTT/CCTGTA`	1	--	int¹		2		WA	120
rs11969968^1,2	C,F,H	--	155876608(+)	`CGACTC/ACCGTT`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SYNJ2 (158402888 - 158520208 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SYNJ2: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SYNJ2

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(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.)
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SYNJ2 for disorders           About GeneDecksing

OMIM gene information: 609410    OMIM disorders: --

7 diseases for SYNJ2:    About MalaCards

hairy cell leukemia oculocerebrorenal syndrome t-cell leukemia pharyngitis

leukemia prostate cancer prostatitis

1 disease from the University of Copenhagen DISEASES database for SYNJ2:

Oculocerebrorenal syndrome

Export disorders for SYNJ2 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 SYNJ2 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with SYNJ2)

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Synaptojanin 2, a novel Rac1 effector that regulates clathrin- mediated endocytosis. (PubMed id 11084340)^{1, 2, 9} Malecz N....Symons M. (2000)
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. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Identification and characterization of a synaptojanin 2 splice isoform predominantly expressed in nerve terminals. (PubMed id 11498538)^{1, 2} Nemoto Y.... De Camilli P. (2001)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. (PubMed id 16102578)^{1, 9} Rossi M.R....Ionov Y. (2005)
Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells. (PubMed id 14562116)^{1, 9} Spaenij-Dekking E.H....Kluin-Nelemans J.C. (2003)
Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1. (PubMed id 17562712)^{1, 9} Ieguchi K....Satoh T. (2007)
Evolutionary conserved longevity genes and human cogni tive abilities in elderly cohorts. (PubMed id 22045296)¹ Lopez L.M....Deary I.J. (2012)
Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)¹ Wong K.A....O'Bryan J.P. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8871	HGNC: 11504	AceView: SYNJ2	Ensembl:ENSG00000078269	euGenes: HUgn8871
ECgene: SYNJ2	Kegg: 8871	H-InvDB: SYNJ2

(According to HUGE)
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HUGE: KIAA0348

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SYNJ2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SYNJ2 gene
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Patent Information for SYNJ2 gene:
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