Aliases for RIMS4 Gene

Aliases for RIMS4 Gene

  • Regulating Synaptic Membrane Exocytosis 4 2 3 5
  • Regulating Synaptic Membrane Exocytosis Protein 4 3 4
  • Rab3-Interacting Molecule 4 3 4
  • RIM4 Gamma 3 4
  • C20orf190 3 4
  • RIM 4 3 4
  • Chromosome 20 Open Reading Frame 190 2
  • RIM4-Gamma 3
  • RIM4gamma 3
  • DJ781B1.3 2
  • RIM-4 3
  • RIMS4 5
  • RIM4 3

External Ids for RIMS4 Gene

Previous HGNC Symbols for RIMS4 Gene

  • C20orf190

Previous GeneCards Identifiers for RIMS4 Gene

  • GC20U900082
  • GC20M044070
  • GC20M044065
  • GC20M042813
  • GC20M043380
  • GC20M040121

Summaries for RIMS4 Gene

GeneCards Summary for RIMS4 Gene

RIMS4 (Regulating Synaptic Membrane Exocytosis 4) is a Protein Coding gene. Diseases associated with RIMS4 include Partial Trisomy Distal 4Q and Heimler Syndrome 2. Gene Ontology (GO) annotations related to this gene include ion channel binding. An important paralog of this gene is RIMS2.

UniProtKB/Swiss-Prot Summary for RIMS4 Gene

Additional gene information for RIMS4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIMS4 Gene

Genomics for RIMS4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIMS4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J044810 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 245 1.4 PATZ1 EZH2 ZNF341 ZNF561 KLF9 ZBTB48 ZBTB26 GATAD2B FOXM1 ZFHX2 RIMS4 HSALNG0130338 KCNK15
GH20J044809 Enhancer 0.3 ENCODE 600.7 +1.2 1162 0.1 EZH2 SCRT2 RIMS4 HSALNG0130338 KCNK15
GH20J044784 Enhancer 0.8 Ensembl ENCODE 13.1 +25.1 25145 2.4 CTCF TEAD4 SCRT2 ZNF23 ZBTB17 PKNOX1 ZFHX2 RAD21 RCOR1 NFIB RIMS4 KCNK15 KCNK15-AS1 ENSG00000132832 PABPC1L piR-32470-040 HSALNG0130338
GH20J045209 Enhancer 0.7 Ensembl ENCODE 11.7 -399.6 -399555 1.4 PHB2 RAD51 USF1 NONO SALL2 ZNF366 FOXP1 HDAC2 NANOG POU5F1 SLPI GDAP1L1 RIMS4 NONHSAG031856.2 SEMG1 SEMG2
GH20J044860 Enhancer 0.7 Ensembl ENCODE 11.4 -52.0 -52048 3.2 RFX1 ZIC2 PKNOX1 ESR1 NFIC TCF12 ZBTB33 MEIS2 CBFA2T2 CBFA2T3 lnc-YWHAB-1 YWHAB KCNK15 KCNK15-AS1 RIMS4 CCN5 ENSG00000132832 PABPC1L PGBD4P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMS4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIMS4

Top Transcription factor binding sites by QIAGEN in the RIMS4 gene promoter:
  • ATF-2
  • CRE-BP1
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • POU2F1
  • POU2F1a
  • RORalpha1
  • SREBP-1b
  • SREBP-1c

Genomic Locations for RIMS4 Gene

Genomic Locations for RIMS4 Gene
chr20:44,751,808-44,810,546
(GRCh38/hg38)
Size:
58,739 bases
Orientation:
Minus strand
chr20:43,380,445-43,438,979
(GRCh37/hg19)
Size:
58,535 bases
Orientation:
Minus strand

Genomic View for RIMS4 Gene

Genes around RIMS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIMS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIMS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIMS4 Gene

Proteins for RIMS4 Gene

  • Protein details for RIMS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H426-RIMS4_HUMAN
    Recommended name:
    Regulating synaptic membrane exocytosis protein 4
    Protein Accession:
    Q9H426
    Secondary Accessions:
    • A4FU94
    • E1P613
    • Q3MI44
    • Q5JWT7

    Protein attributes for RIMS4 Gene

    Size:
    269 amino acids
    Molecular mass:
    29329 Da
    Quaternary structure:
    • Binds PPFIA3 (By similarity). Does not bind RAB3.

    Alternative splice isoforms for RIMS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIMS4 Gene

Post-translational modifications for RIMS4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIMS4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIMS4 Gene

Domains & Families for RIMS4 Gene

Gene Families for RIMS4 Gene

Protein Domains for RIMS4 Gene

InterPro:
Blocks:
  • C2 domain
ProtoNet:

Suggested Antigen Peptide Sequences for RIMS4 Gene

GenScript: Design optimal peptide antigens:
  • RIMS4 protein (A4FU94_HUMAN)
  • RIMS4 protein (Q3MI43_HUMAN)
  • Rab3-interacting molecule 4 (RIMS4_HUMAN)
genes like me logo Genes that share domains with RIMS4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RIMS4 Gene

Function for RIMS4 Gene

Molecular function for RIMS4 Gene

UniProtKB/Swiss-Prot Function:
Regulates synaptic membrane exocytosis.

Phenotypes From GWAS Catalog for RIMS4 Gene

Gene Ontology (GO) - Molecular Function for RIMS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IBA --
GO:0044325 ion channel binding IEA,ISS --
genes like me logo Genes that share ontologies with RIMS4: view
genes like me logo Genes that share phenotypes with RIMS4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RIMS4 Gene

Localization for RIMS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMS4 Gene

Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIMS4 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
cytosol 3
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RIMS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IBA --
GO:0045202 synapse IBA --
GO:0048786 presynaptic active zone TAS 15217342
genes like me logo Genes that share ontologies with RIMS4: view

Pathways & Interactions for RIMS4 Gene

PathCards logo

SuperPathways for RIMS4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIMS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA --
GO:0006887 exocytosis IEA --
GO:0042391 regulation of membrane potential IEA,ISS --
GO:0048167 regulation of synaptic plasticity IBA --
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with RIMS4: view

No data available for Pathways by source and SIGNOR curated interactions for RIMS4 Gene

Drugs & Compounds for RIMS4 Gene

No Compound Related Data Available

Transcripts for RIMS4 Gene

mRNA/cDNA for RIMS4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS4

Alternative Splicing Database (ASD) splice patterns (SP) for RIMS4 Gene

No ASD Table

Relevant External Links for RIMS4 Gene

GeneLoc Exon Structure for
RIMS4

Expression for RIMS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIMS4 Gene

mRNA differential expression in normal tissues according to GTEx for RIMS4 Gene

This gene is overexpressed in Brain - Cortex (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Frontal Cortex (BA9) (x4.7), Brain - Putamen (basal ganglia) (x4.5), Brain - Anterior cingulate cortex (BA24) (x4.5), and Brain - Caudate (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for RIMS4 Gene

This gene is overexpressed in Uterus (28.8), Plasma (28.0), and Heart (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIMS4 Gene



Protein tissue co-expression partners for RIMS4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIMS4

SOURCE GeneReport for Unigene cluster for RIMS4 Gene:

Hs.517065

Evidence on tissue expression from TISSUES for RIMS4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RIMS4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIMS4 Gene

Orthologs for RIMS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIMS4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RIMS4 30 31
  • 99.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RIMS4 30 31
  • 94.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RIMS4 30 31
  • 93.54 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rims4 30 17 31
  • 92.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rims4 30
  • 91.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia RIMS4 31
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RIMS4 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RIMS4 30 31
  • 81.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIMS4 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rims4 30
  • 75.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii RIMS4 31
  • 84 (a)
OneToOne
LOC570923 30
  • 76.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rim 31
  • 4 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-10 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1713 31
  • 8 (a)
OneToMany
Species where no ortholog for RIMS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RIMS4 Gene

ENSEMBL:
Gene Tree for RIMS4 (if available)
TreeFam:
Gene Tree for RIMS4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIMS4: view image

Paralogs for RIMS4 Gene

Paralogs for RIMS4 Gene

(4) SIMAP similar genes for RIMS4 Gene using alignment to 2 proteins:

  • RIMS4_HUMAN
  • Q3MI43_HUMAN
genes like me logo Genes that share paralogs with RIMS4: view

Variants for RIMS4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIMS4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
783864 Benign: not provided 44,771,403(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RIMS4 Gene

Structural Variations from Database of Genomic Variants (DGV) for RIMS4 Gene

Variant ID Type Subtype PubMed ID
esv3447889 CNV duplication 20981092
esv3645917 CNV loss 21293372
nsv1056102 CNV loss 25217958
nsv1072542 CNV deletion 25765185
nsv1122033 CNV deletion 24896259
nsv1144937 CNV deletion 24896259
nsv458985 CNV gain 19166990
nsv586076 CNV gain 21841781

Variation tolerance for RIMS4 Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIMS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIMS4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIMS4 Gene

Disorders for RIMS4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RIMS4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
partial trisomy distal 4q
  • chromosome 4, partial trisomy 4q
heimler syndrome 2
  • hmlr2
- elite association - COSMIC cancer census association via MalaCards
Search RIMS4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIMS4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RIMS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIMS4 Gene

Publications for RIMS4 Gene

  1. Genomic definition of RIM proteins: evolutionary amplification of a family of synaptic regulatory proteins. (PMID: 12620390) Wang Y … Südhof TC (Genomics 2003) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RIMS4 Gene

Sources for RIMS4 Gene