• Gene id: 140730

Gene Summary

• Gene Symbol: RIMS4   Gene   UCSC   Ensembl
• Aliases: C20orf190, RIM 4, RIM-4, RIM4, RIM4-gamma, RIM4gamma
• Gene name: regulating synaptic membrane exocytosis 4
• Alternate names: regulating synaptic membrane exocytosis protein 4, RIM4 gamma, rab3-interacting molecule 4,
• Gene location: 20q13.12 (44810545: 44751807)     Exons: 6     NC_000020.11

Protein Summary

• Protein general information: Q9H426  
  • Name: Regulating synaptic membrane exocytosis protein 4 (RIM4 gamma) (Rab3 interacting molecule 4) (RIM 4)
  • Length: 269  
  • Mass: 29329
• Sequence:

  MERSQSRLSLSASFEALAIYFPCMNSFDDEDAGDSRRLKGAIQRSTETGLAVEMPSRTLRQASHESIEDSMNSYG
  SEGNLNYGGVCLASDAQFSDFLGSMGPAQFVGRQTLATTPMGDVEIGLQERNGQLEVDIIQARGLTAKPGSKTLP
  AAYIKAYLLENGICIAKKKTKVARKSLDPLYNQVLLFPESPQGKVLQVIVWGNYGRMERKQFMGVARVLLEELDL
  TTLAVGWYKLFPTSSMVDPATGPLLRQASQLSLESTVGPCGERS

• Structural information:
  • Protein Domains: (115..23-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR039032  
  • Prosite: PS50004
  • STRING: ENSP00000439287
• Other Databases: GeneCards:  RIMS4  Malacards:  RIMS4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044325	ion channel binding	ISS	molecular function
GO:2000300	regulation of synaptic vesicle exocytosis	ISS	biological process
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IBA	biological process
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:0050806	positive regulation of synaptic transmission	IBA	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0048788	cytoskeleton of presynaptic active zone	IBA	cellular component
GO:0048167	regulation of synaptic plasticity	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0045202	synapse	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0097060	synaptic membrane	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq