Seroatlas · Human Serome Atlas

RIMS2

Regulating synaptic membrane exocytosis protein 2

Also known as: KIAA0751, OBOE, RAB3IP3, RIM2, RIMS2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UQ26
Gene: RIMS2
Ensembl: ENSG00000176406
Chromosome: 8
Canonical length: 1411 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1411 residues, UniProt reviewed canonical sequence.

>Q9UQ26|RIMS2
     1  MSAPVGPRGR LAPIPAASQP PLQPEMPDLS HLTEEERKII LAVMDRQKKK VKEEHKPQLT
    61  QWFPFSGITE LVNNVLQPQQ KQQNEKEPQT KLHQQFEMYK EQVKKMGEES QQQQEQKGDA
   121  PTCGICHKTK FADGCGHNCS YCQTKFCARC GGRVSLRSNK VMWVCNLCRK QQEILTKSGA
   181  WFYNSGSNTP QQPDQKVLRG LRNEEAPQEK KPKLHEQTQF QGPSGDLSVP AVEKSRSHGL
   241  TRQHSIKNGS GVKHHIASDI ASDRKRSPSV SRDQNRRYDQ REEREEYSQY ATSDTAMPRS
   301  PSDYADRRSQ HEPQFYEDSD HLSYRDSNRR SHRHSKEYIV DDEDVESRDE YERQRREEEY
   361  QSRYRSDPNL ARYPVKPQPY EEQMRIHAEV SRARHERRHS DVSLANADLE DSRISMLRMD
   421  RPSRQRSISE RRAAMENQRS YSMERTREAQ GPSSYAQRTT NHSPPTPRRS PLPIDRPDLR
   481  RTDSLRKQHH LDPSSAVRKT KREKMETMLR NDSLSSDQSE SVRPPPPKPH KSKKGGKMRQ
   541  ISLSSSEEEL ASTPEYTSCD DVEIESESVS EKGDSQKGKR KTSEQAVLSD SNTRSERQKE
   601  MMYFGGHSLE EDLEWSEPQI KDSGVDTCSS TTLNEEHSHS DKHPVTWQPS KDGDRLIGRI
   661  LLNKRLKDGS VPRDSGAMLG LKVVGGKMTE SGRLCAFITK VKKGSLADTV GHLRPGDEVL
   721  EWNGRLLQGA TFEEVYNIIL ESKPEPQVEL VVSRPIGDIP RIPDSTHAQL ESSSSSFESQ
   781  KMDRPSISVT SPMSPGMLRD VPQFLSGQLS IKLWFDKVGH QLIVTILGAK DLPSREDGRP
   841  RNPYVKIYFL PDRSDKNKRR TKTVKKTLEP KWNQTFIYSP VHRREFRERM LEITLWDQAR
   901  VREEESEFLG EILIELETAL LDDEPHWYKL QTHDVSSLPL PHPSPYMPRR QLHGESPTRR
   961  LQRSKRISDS EVSDYDCDDG IGVVSDYRHD GRDLQSSTLS VPEQVMSSNH CSPSGSPHRV
  1021  DVIGRTRSWS PSVPPPQSRN VEQGLRGTRT MTGHYNTISR MDRHRVMDDH YSPDRDRDCE
  1081  AADRQPYHRS RSTEQRPLLE RTTTRSRSTE RPDTNLMRSM PSLMTGRSAP PSPALSRSHP
  1141  RTGSVQTSPS STPVAGRRGR QLPQLPPKGT LDRKAGGKKL RSTVQRSTET GLAVEMRNWM
  1201  TRQASRESTD GSMNSYSSEG NLIFPGVRLA SDSQFSDFLD GLGPAQLVGR QTLATPAMGD
  1261  IQVGMMDKKG QLEVEIIRAR GLVVKPGSKT LPAPYVKVYL LDNGVCIAKK KTKVARKTLE
  1321  PLYQQLLSFE ESPQGKVLQI IVWGDYGRMD HKSFMGVAQI LLDELELSNM VIGWFKLFPP
  1381  SSLVDPTLAP LTRRASQSSL ESSTGPSYSR S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIMS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

retina: 73 nTPM
adrenal gland: 46 nTPM
amygdala: 42 nTPM
cerebral cortex: 36 nTPM
basal ganglia: 27 nTPM
hippocampal formation: 18 nTPM

Single-cell type

rod photoreceptor cells: 5,188 nCPM
cone photoreceptor cells: 3,569 nCPM
thyrotrophs: 3,099 nCPM
lactotrophs: 3,055 nCPM
somatotrophs: 2,578 nCPM
gonadotrophs: 2,483 nCPM

Immune cell

basophil: 0.8 nTPM
neutrophil: 0.5 nTPM
classical monocyte: 0.1 nTPM
eosinophil: 0.1 nTPM
naive B-cell: 0.1 nTPM
NK-cell: 0.1 nTPM

Brain region

cerebral cortex: 127 nTPM
cerebellum: 102 nTPM
white matter: 90 nTPM
basal ganglia: 85 nTPM
thalamus: 75 nTPM
hypothalamus: 72 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RIMS2.

Disease | AllUniProt

Conditions RIMS2 is implicated in, by any mechanism.

Cone-rod synaptic disorder syndrome, congenital non-progressive (CRSDS) MIM:618970

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 244 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cone-rod synaptic disorder syndrome, congenital nonprogressive
Cone-rod synaptic disorder, congenital nonprogressive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.21
gnomAD pLI: 1
gnomAD missense Z: 0.78
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RIMS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RIMS2 as an antibody target. Whether an autoantibody or antibody against RIMS2 could matter depends on whether native RIMS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RIMS2 is annotated at the cell surface, where native RIMS2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RIMS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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