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Aliases for SYNJ2 Gene

Aliases for SYNJ2 Gene

  • Synaptojanin 2 2 3
  • Synaptic Inositol 1,4,5-Trisphosphate 5-Phosphatase 2 3 4
  • EC 3.1.3.36 4 63
  • KIAA0348 4 6
  • Synaptic Inositol-1,4,5-Trisphosphate 5-Phosphatase 2 3
  • Inositol Phosphate 5-Phosphatase 2 3
  • Synaptojanin-2 3
  • 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. Diseases associated with SYNJ2 include oculocerebrorenal syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include RNA binding and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNJ2 Gene

Genomics for SYNJ2 Gene

Epigenetics Products

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

Genomic Location for SYNJ2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SYNJ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNJ2 Gene

No data available for Regulatory Elements 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

Proteomics data for SYNJ2 Gene at MOPED

Post-translational modifications for SYNJ2 Gene

  • Ubiquitination at Lys1432
  • Modification sites at PhosphoSitePlus

Other Protein References for SYNJ2 Gene

Domains 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 :
  • O15056
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
  • Contains 1 SAC domain.
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:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IEA --
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

miRNA for SYNJ2 Gene

miRTarBase miRNAs that target SYNJ2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SYNJ2 Gene

Localization for SYNJ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNJ2 Gene

Membrane. Note=Predominantly associated with the particulate fractions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNJ2 Gene COMPARTMENTS Subcellular localization image for SYNJ2 gene
Compartment Confidence
cytosol 4
plasma membrane 3
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SYNJ2 Gene

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

Pathways 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:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0044281 small molecule metabolic process TAS --
GO:0046856 phosphatidylinositol dephosphorylation IEA --
genes like me logo Genes that share ontologies with SYNJ2: view

Compounds for SYNJ2 Gene

(3) HMDB Compounds for SYNJ2 Gene

Compound Synonyms Cas Number PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • 1-Phosphatidyl-1D-myo-inositol
Not Available
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNJ2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SYNJ2

Flow Cytometry 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 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) (9.4) and Brain - Substantia nigra (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNJ2 Gene

SOURCE GeneReport for Unigene cluster for SYNJ2 Gene Hs.434494

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

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.44 (n)
  • 99.44 (a)
SYNJ2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYNJ2 35
  • 84.44 (n)
  • 84.83 (a)
SYNJ2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNJ2 35
  • 85.73 (n)
  • 86.68 (a)
SYNJ2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Synj2 35
  • 83.04 (n)
  • 84.6 (a)
Synj2 16
Synj2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYNJ2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Synj2 35
  • 83.27 (n)
  • 85.41 (a)
chicken
(Gallus gallus)
Aves SYNJ2 35
  • 71.76 (n)
  • 74.26 (a)
SYNJ2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNJ2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia synj2 35
  • 68.37 (n)
  • 70.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta synj 36
  • 43 (a)
OneToMany
synaptojanin 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-26 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP52 36
  • 29 (a)
ManyToMany
INP53 36
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for SYNJ2:
  • 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

Selected 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 MAF
rs168415 -- 158,083,026(-) GAACC(C/T)GGGAG intron-variant
rs173263 -- 158,081,558(-) AAAAA(G/T)AGGGA intron-variant
rs184751 -- 158,091,254(-) actgc(A/G)agctc intron-variant
rs189482 -- 158,060,962(+) GGCCC(A/G)GCAGC intron-variant
rs191577 -- 158,091,191(-) tacag(G/T)caccc intron-variant

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

Variant ID Type Subtype PubMed ID
esv2675122 CNV Deletion 23128226
nsv886796 CNV Loss 21882294
esv2732991 CNV Deletion 23290073
nsv5559 CNV Loss 18451855
esv2732992 CNV Deletion 23290073

Relevant External Links for SYNJ2 Gene

HapMap Linkage Disequilibrium report
SYNJ2

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

Disorders for SYNJ2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SYNJ2 Gene including...

Search for SYNJ2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SYNJ2 Gene

Relevant External Links for SYNJ2

Genetic Association Database (GAD)
SYNJ2
genes like me logo Genes that share disorders with SYNJ2: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Synaptojanin 2 is recognized by HLA class II-restricted hairy cell leukemia-specific T cells. (PMID: 14562116) Spaenij-Dekking E.H. … Kluin-Nelemans J.C. (Leukemia 2003) 3 23
  3. 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 23
  4. 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 23
  5. 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. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4

Products for SYNJ2 Gene

Sources for SYNJ2 Gene

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