• Gene id: 55333

Gene Summary

• Gene Symbol: SYNJ2BP   Gene   UCSC   Ensembl
• Aliases: ARIP2, OMP25
• Gene name: synaptojanin 2 binding protein
• Alternate names: synaptojanin-2-binding protein, activin receptor interacting protein 5, mitochondrial outer membrane protein 25,
• Gene location: 14q24.2 (70417089: 70366498)     Exons: 4     NC_000014.9
• OMIM: 608601

Protein Summary

• Protein general information: P57105  
  • Name: Synaptojanin 2 binding protein (Mitochondrial outer membrane protein 25)
  • Length: 145  
  • Mass: 15928
• Sequence:

  MNGRVDYLVTEEEINLTRGPSGLGFNIVGGTDQQYVSNDSGIYVSRIKENGAAALDGRLQEGDKILSVNGQDLKN
  LLHQDAVDLFRNAGYAVSLRVQHRLQVQNGPIGHRGEGDPSGIPIFMVLVPVFALTMVAAWAFMRYRQQL

• Structural information:
  • Protein Domains: (13..10-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR001478  IPR036034  
  • Prosite: PS50106
  • PDB: 2ENO 2JIK 2JIN
  • PDBsum: 2ENO 2JIK 2JIN
  • STRING: ENSP00000256366
• Other Databases: GeneCards:  SYNJ2BP  Malacards:  SYNJ2BP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0043113	receptor clustering	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0030054	cell junction	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0097120	receptor localization to synapse	IBA	biological process
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IMP	biological process
GO:0010596	negative regulation of endothelial cell migration	IMP	biological process
GO:1903671	negative regulation of sprouting angiogenesis	IMP	biological process
GO:0016525	negative regulation of angiogenesis	IMP	biological process
GO:0008593	regulation of Notch signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0006605	protein targeting	IEA	biological process
GO:0048312	intracellular distribution of mitochondria	IEA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray