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Aliases for SYNJ2 Gene

Aliases for SYNJ2 Gene

  • Synaptojanin 2 2 3 5
  • Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 2 2 3 4
  • Inositol Polyphosphate-5-Phosphatase H 2 3
  • Phosphoinositide 5-Phosphatase 2 3
  • EC 3.1.3.36 4 61
  • Inositol Phosphate 5-Phosphatase 2 3
  • Synaptojanin-2 3
  • KIAA0348 4
  • INPP5H 3

External Ids for SYNJ2 Gene

Previous GeneCards Identifiers for SYNJ2 Gene

  • GC06P157842
  • GC06P158276
  • GC06P158312
  • GC06P158373
  • GC06P158322
  • GC06P158402
  • GC06P155875

Summaries for SYNJ2 Gene

Entrez Gene Summary for SYNJ2 Gene

  • 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]

GeneCards Summary for SYNJ2 Gene

SYNJ2 (Synaptojanin 2) is a Protein Coding gene. Among its related pathways are Inositol phosphate metabolism (KEGG) and Vesicle-mediated transport. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SYNJ1.

UniProtKB/Swiss-Prot for SYNJ2 Gene

  • Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNJ2 Gene

Genomics for SYNJ2 Gene

Regulatory Elements for SYNJ2 Gene

Enhancers for SYNJ2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G158055 1.7 FANTOM5 Ensembl ENCODE dbSUPER 45 +77.4 77419 7.0 SIN3A YBX1 BMI1 ZNF121 GATA2 ELK1 FOS ZBTB11 CEBPB ELF1 SYNJ2 RNU6-786P SERAC1 SNX9 GC06M158055
GH06G158066 1.4 Ensembl ENCODE dbSUPER 46.5 +87.9 87879 6.2 FOXA2 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF121 GATA2 ZNF143 FOS SYNJ2 GTF2H5 SERAC1 ENSG00000271040 GC06M158055
GH06G158037 2 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +59.5 59526 7.3 MLX CREB3L1 YBX1 FEZF1 ZNF263 SP3 MEF2D SSRP1 ZNF610 GLIS1 SYNJ2 RNU6-786P LDHAL6FP SNX9 GC06M158055 SYNJ2-IT1
GH06G158016 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.8 +37.6 37568 5.8 KLF17 BMI1 CBX5 SCRT2 ETV6 RELB FOS CREM IKZF2 EGR2 SYNJ2 RNU6-786P GTF2H5 SYNJ2-IT1 GC06M158055
GH06G158085 1.2 Ensembl ENCODE dbSUPER 27.3 +105.0 104959 1.9 CTCF MAX CEBPB CEBPG ATF2 ZBTB7A RAD21 ZNF707 FOXP2 MYC SYNJ2 GC06M158055 SERAC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SYNJ2 on UCSC Golden Path with GeneCards custom track

Promoters for SYNJ2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000206003 444 2201 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2

Genomic Location for SYNJ2 Gene

Chromosome:
6
Start:
157,981,856 bp from pter
End:
158,099,176 bp from pter
Size:
117,321 bases
Orientation:
Plus strand

Genomic View for SYNJ2 Gene

Genes around SYNJ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNJ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNJ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNJ2 Gene

Proteins for SYNJ2 Gene

  • Protein details for SYNJ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15056-SYNJ2_HUMAN
    Recommended name:
    Synaptojanin-2
    Protein Accession:
    O15056
    Secondary Accessions:
    • Q5TA13
    • Q5TA16
    • Q5TA19
    • Q86XK0
    • Q8IZA8
    • Q9H226

    Protein attributes for SYNJ2 Gene

    Size:
    1496 amino acids
    Molecular mass:
    165538 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH43277.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNJ2 Gene

    Alternative splice isoforms for SYNJ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNJ2 Gene

Selected DME Specific Peptides for SYNJ2 Gene

O15056:
  • KLKDGARS
  • HKQAKACL
  • FSHDYVFWCGDFNYRIDL
  • EANAPAF
  • DTVKTGMGG
  • DCLDRTN
  • ALEGKAK
  • RGSVPLFW
  • GTWNVNGGKQFRS
  • PFIRDVA
  • KCRTPAWTDRVLW

Post-translational modifications for SYNJ2 Gene

  • Ubiquitination at Lys1432
  • Modification sites at PhosphoSitePlus

Domains & Families for SYNJ2 Gene

Gene Families for SYNJ2 Gene

Suggested Antigen Peptide Sequences for SYNJ2 Gene

Graphical View of Domain Structure for InterPro Entry

O15056

UniProtKB/Swiss-Prot:

SYNJ2_HUMAN :
  • Belongs to the synaptojanin family.
Family:
  • Belongs to the synaptojanin family.
  • In the central section; belongs to the inositol 1,4,5-trisphosphate 5-phosphatase family.
genes like me logo Genes that share domains with SYNJ2: view

Function for SYNJ2 Gene

Molecular function for SYNJ2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for SYNJ2 Gene

Gene Ontology (GO) - Molecular Function for SYNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0004438 phosphatidylinositol-3-phosphatase activity TAS --
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS --
GO:0005515 protein binding IPI 15090612
genes like me logo Genes that share ontologies with SYNJ2: view
genes like me logo Genes that share phenotypes with SYNJ2: view

Animal Models for SYNJ2 Gene

MGI Knock Outs for SYNJ2:

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYNJ2 Gene

Localization for SYNJ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNJ2 Gene

Cytoplasm. Cell membrane. Membrane raft. Cell projection, axon. Cytoplasm, cytoskeleton. Note=Localizes at nerve terminals in brain and at bundles of microtubules surrounding the nucleus in the elongating spermatids corresponding to the manchette (By similarity). Translocates from the cytoplasm to membrane ruffles in a RAC1-dependent manner (PubMed:11084340). {ECO:0000269 PubMed:11084340}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNJ2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for SYNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SYNJ2: view

Pathways & Interactions for SYNJ2 Gene

genes like me logo Genes that share pathways with SYNJ2: view

Gene Ontology (GO) - Biological Process for SYNJ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA --
GO:0046856 phosphatidylinositol dephosphorylation IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with SYNJ2: view

No data available for SIGNOR curated interactions for SYNJ2 Gene

Drugs & Compounds for SYNJ2 Gene

(2) Drugs for SYNJ2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(2) Additional Compounds for SYNJ2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with SYNJ2: view

Transcripts for SYNJ2 Gene

Unigene Clusters for SYNJ2 Gene

Synaptojanin 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYNJ2 Gene

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: - - -
SP6: - - - - - -
SP7: - - -
SP8: - -
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for SYNJ2 Gene

GeneLoc Exon Structure for
SYNJ2
ECgene alternative splicing isoforms for
SYNJ2

Expression for SYNJ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SYNJ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SYNJ2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.4) and Brain - Substantia nigra (x4.9).

Protein differential expression in normal tissues from HIPED for SYNJ2 Gene

This gene is overexpressed in Bone marrow stromal cell (27.9) and Breast (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SYNJ2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SYNJ2 Gene:

SYNJ2

SOURCE GeneReport for Unigene cluster for SYNJ2 Gene:

Hs.434494

Evidence on tissue expression from TISSUES for SYNJ2 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with SYNJ2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNJ2 Gene

Orthologs for SYNJ2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SYNJ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNJ2 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia SYNJ2 34 35
  • 85.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SYNJ2 34 35
  • 84.44 (n)
rat
(Rattus norvegicus)
Mammalia Synj2 34
  • 83.27 (n)
mouse
(Mus musculus)
Mammalia Synj2 34 16 35
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia SYNJ2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNJ2 34 35
  • 71.76 (n)
lizard
(Anolis carolinensis)
Reptilia SYNJ2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia synj2 34
  • 68.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta synaptojanin 36
  • 47 (a)
synj 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-26 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP53 35
  • 30 (a)
ManyToMany
INP52 35
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for SYNJ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SYNJ2 Gene

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

Paralogs for SYNJ2 Gene

Paralogs for SYNJ2 Gene

(1) SIMAP similar genes for SYNJ2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SYNJ2: view

Variants for SYNJ2 Gene

Sequence variations from dbSNP and Humsavar for SYNJ2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs869312665 Uncertain significance 158,078,271(+) AAGCG(C/T)CTGAT intron-variant, reference, missense
rs1000040832 -- 157,998,996(+) AAAGA(-/CAAG)CAACA intron-variant
rs1000041016 -- 158,077,577(+) AAGTA(C/T)GTTTT intron-variant
rs1000066682 -- 157,996,847(+) CCCGA(G/T)GCCTC intron-variant
rs1000104651 -- 158,023,707(+) GTAAC(C/T)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYNJ2 Gene

Variant ID Type Subtype PubMed ID
esv2675122 CNV deletion 23128226
esv2732991 CNV deletion 23290073
esv2732992 CNV deletion 23290073
esv3540731 CNV deletion 23714750
esv3540734 CNV deletion 23714750
esv3611387 CNV loss 21293372
esv3890972 CNV gain 25118596
nsv1124137 CNV deletion 24896259
nsv1137168 CNV deletion 24896259
nsv5559 CNV deletion 18451855
nsv604980 CNV loss 21841781

Variation tolerance for SYNJ2 Gene

Residual Variation Intolerance Score: 6.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNJ2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNJ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNJ2 Gene

Disorders for SYNJ2 Gene

Relevant External Links for SYNJ2

Genetic Association Database (GAD)
SYNJ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNJ2

No disorders were found for SYNJ2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SYNJ2 Gene

Publications for SYNJ2 Gene

  1. Synaptojanin 2, a novel Rac1 effector that regulates clathrin- mediated endocytosis. (PMID: 11084340) Malecz N. … Symons M. (Curr. Biol. 2000) 3 4 22 64
  2. Regulation of synaptojanin 2 5'-phosphatase activity by Src. (PMID: 23076136) Chuang Y. … Symons M. (Cell Adh Migr 2012) 2 3 64
  3. Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1. (PMID: 17562712) Ieguchi K. … Satoh T. (J. Biol. Chem. 2007) 3 22 64
  4. Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. (PMID: 16102578) Rossi M.R. … Ionov Y. (Cancer Genet. Cytogenet. 2005) 3 22 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for SYNJ2 Gene

Sources for SYNJ2 Gene

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