SYNJ2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SYNJ2
Official Name
synaptojanin 2 [Source:HGNC Symbol;Acc:HGNC:11504]
Ensembl ID
ENSG00000078269
Bio databases IDs NCBI: 8871 Ensembl: ENSG00000078269
Aliases synaptojanin 2, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2, phosphoinositide 5-phosphatase, inositol polyphosphate-5-phosphatase H
Synonyms INPP5H, mKIAA0348, SJ2, Sj2a, Synaptojanin 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SYNJ2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphatidylinositol 5' phosphatase domain
  • RNA recognition motif (RRM) superfamily
  • phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase
  • inositol-polyphosphate 5-phosphatase
  • phosphoinositide 5-phosphatase
  • protein binding
  • phosphoinositide phosphatase
  • proline rich domain
  • inositol phosphate binding domain
  • SH3-domain binding
  • PDZ-domain binding
  • phosphatidylinositol-3-phosphatase
  • Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  • phosphatase
  • Domain of unknown function (DUF1866)
  • SacI homology domain

Pathways

Biological processes and signaling networks where the SYNJ2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • endometriosis
  • hearing loss
  • diabetic nephropathy
  • age-related hearing loss
  • glioblastoma
  • glioblastoma cancer
  • chronic lymphocytic leukemia
  • infection by Dengue virus 2
regulated by
regulates
  • EGFR
  • phosphatidylinositol 4,5-bisphosphate
  • phosphatidylinositol
  • EHD2
  • inositol phosphate
  • IL2RG
role in cell
  • quantity
  • clustering
  • organization
  • endocytosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • presynaptic regions
  • cellular membrane
  • manchette
  • Mitochondria
  • cytosol
  • membrane ruffles
  • cytoplasmic microtubule
  • axon terminals
  • presynaptic terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SYNJ2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • membrane organization
  • synaptic vesicle endocytosis
  • phosphatidylinositol-3-phosphate biosynthetic process
  • phosphatidylinositol biosynthetic process
  • phosphatidylinositol dephosphorylation

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • perinuclear region of cytoplasm
  • membrane raft
  • cytosol
  • cell projection
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
  • phosphatidylinositol-3-phosphatase activity
  • RNA binding
  • protein binding
  • phosphatidylinositol phosphate 4-phosphatase activity
  • phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
  • PDZ domain binding
  • SH3 domain binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.