RIMS2 - regulating synaptic membrane exocytosis 2 Gene

Also Known as OBOE; RIM2; CRSDS; RAB3IP3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9699

About RIMS2

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:103,500,610-104,256,094 (from NCBI)

This gene has 31 transcripts (splice variants), 241 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 12.7), brain (RPKM 6.8) and 1 other tissue.

Summary

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several Other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

RIMS2 Products (33)

mRNA Protein Name
NM_001100117.3 NP_001093587.1 regulating synaptic membrane exocytosis protein 2 isoform a
NM_001282881.2 NP_001269810.1 regulating synaptic membrane exocytosis protein 2 isoform c
NM_001282882.2 NP_001269811.1 regulating synaptic membrane exocytosis protein 2 isoform d
NM_001348484.3 NP_001335413.1 regulating synaptic membrane exocytosis protein 2 isoform e
NM_001348485.2 NP_001335414.1 regulating synaptic membrane exocytosis protein 2 isoform f
NM_001348486.2 NP_001335415.1 regulating synaptic membrane exocytosis protein 2 isoform g
NM_001348487.2 NP_001335416.1 regulating synaptic membrane exocytosis protein 2 isoform h
NM_001348488.2 NP_001335417.1 regulating synaptic membrane exocytosis protein 2 isoform i
NM_001348489.2 NP_001335418.1 regulating synaptic membrane exocytosis protein 2 isoform j
NM_001348490.2 NP_001335419.1 regulating synaptic membrane exocytosis protein 2 isoform k
NM_001348491.2 NP_001335420.1 regulating synaptic membrane exocytosis protein 2 isoform l
NM_001348492.2 NP_001335421.1 regulating synaptic membrane exocytosis protein 2 isoform m
NM_001348493.2 NP_001335422.1 regulating synaptic membrane exocytosis protein 2 isoform n
NM_001348494.2 NP_001335423.1 regulating synaptic membrane exocytosis protein 2 isoform o
NM_001348495.2 NP_001335424.1 regulating synaptic membrane exocytosis protein 2 isoform p
NM_001348496.2 NP_001335425.1 regulating synaptic membrane exocytosis protein 2 isoform q
NM_001348497.2 NP_001335426.1 regulating synaptic membrane exocytosis protein 2 isoform r
NM_001348498.2 NP_001335427.1 regulating synaptic membrane exocytosis protein 2 isoform s
NM_001348499.2 NP_001335428.1 regulating synaptic membrane exocytosis protein 2 isoform t
NM_001348500.2 NP_001335429.1 regulating synaptic membrane exocytosis protein 2 isoform u
NM_001348501.2 NP_001335430.1 regulating synaptic membrane exocytosis protein 2 isoform v
NM_001348502.2 NP_001335431.1 regulating synaptic membrane exocytosis protein 2 isoform w
NM_001348503.2 NP_001335432.1 regulating synaptic membrane exocytosis protein 2 isoform x
NM_001348504.2 NP_001335433.1 regulating synaptic membrane exocytosis protein 2 isoform y
NM_001348505.2 NP_001335434.1 regulating synaptic membrane exocytosis protein 2 isoform z
NM_001348506.2 NP_001335435.1 regulating synaptic membrane exocytosis protein 2 isoform aa
NM_001348507.2 NP_001335436.1 regulating synaptic membrane exocytosis protein 2 isoform bb
NM_001348508.2 NP_001335437.1 regulating synaptic membrane exocytosis protein 2 isoform cc
NM_001348509.2 NP_001335438.1 regulating synaptic membrane exocytosis protein 2 isoform dd
NM_001395652.1 NP_001382581.1 regulating synaptic membrane exocytosis protein 2 isoform ee
NM_001395653.1 NP_001382582.1 regulating synaptic membrane exocytosis protein 2 isoform ff
NM_001395654.1 NP_001382583.1 regulating synaptic membrane exocytosis protein 2 isoform gg
NM_014677.5 NP_055492.3 regulating synaptic membrane exocytosis protein 2 isoform b

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in positive regulation of dendrite extension IDA
IDA: Inferred from direct assay
23999003 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RIMS2 Protein Structure

FYVE_2

FYVE_2: FYVE-type zinc finger (30 - 153)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (594 - 674)

C2

C2: C2 domain (760 - 849)

C2

C2: C2 domain (1210 - 1296)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1349 a.a.
Protein Preferred Names Protein Names

regulating synaptic membrane exocytosis protein 2

  • RAB3 interacting protein 3

Related Diseases

Diseases Alias
Cone-Rod Synaptic Disorder, Congenital Nonprogressive

  • Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive

  • CRSD

  • CRSDS

  • Night Blindness, Congenital Stationary, Type 2b

  • Night Blindness, Congenital Stationary, Type 2b, Formerly

  • Csnb2b, Formerly

  • Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly

  • Cone-Rod Synaptic Disorder Syndrome, Congenital Non-Progressive

  • Cone-Rod Synaptic Disorder, Congenital Non-Progressive

  • Csnb2b

  • Incomplete Autosomal Recessive Csnb

  • Incomplete Congenital Stationary Night Blindness Autosomal Recessive

  • Night Blindness, Congenital Stationary, 2b
Cone-Rod Dystrophy 7

  • CORD7

  • Dystrophy, Cone-Rod, Type 7

  • Retinitis Pigmentosa 7
Scoliosis
Microcephaly, Autosomal Dominant

  • Autosomal Dominant Microcephaly

  • Microcephaly Autosomal Dominant

  • Autosomal Dominant Primary Microcephaly

  • Microcephaly With Autosomal Dominant Inheritance
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS11979 RIMS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21733 Rims2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28250 Rims2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RIMS2 VGNC VGNC:76749
Bos taurus RIMS2 VGNC VGNC:33972
Felis catus RIMS2 VGNC VGNC:64631
Canis familiaris RIMS2 VGNC VGNC:45583
Rattus norvegicus RIMS2 RGD RGD:620001
Mus musculus RIMS2 MGD MGI:2152972
Others RIMS2 NCBI