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Cellular Component
Molecular Function
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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | calcium ion-regulated exocytosis of neurotransmitter | | IBA | MGI:MGI:2152971 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | positive regulation of synaptic transmission | | IBA | FB:FBgn0264606 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | regulation of membrane potential | | IBA | MGI:MGI:2152971 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | regulation of membrane potential | | ISS | UniProtKB:P60191 | 2290271 | | ParkinsonsUK-UCL | GO_REF:0000024 | regulation of synaptic plasticity | | IBA | PANTHER:PTN000255280 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | regulation of synaptic vesicle exocytosis | | IBA | PANTHER:PTN000255280 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | regulation of synaptic vesicle exocytosis | | ISS | UniProtKB:Q8CIX1 | 2290271 | | ParkinsonsUK-UCL | GO_REF:0000024 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
4. | Wang Y and Sudhof TC, Genomics 2003 Feb;81(2):126-37. |
PubMed | 11780052 12477932 14702039 15217342 15489334 18187620 20379614 21832049 21873635 22779921 23251661 23602568 26186194 28514442 29507755 |
RIMS4 (Homo sapiens - human) |
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Rims4 (Mus musculus - house mouse) |
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Rims4 (Rattus norvegicus - Norway rat) |
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Rims4 (Chinchilla lanigera - long-tailed chinchilla) |
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RIMS4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RIMS4 (Canis lupus familiaris - dog) |
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Rims4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RIMS4 (Sus scrofa - pig) |
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D20S590E |
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D20S1038 |
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RH44302 |
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G18129 |
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G18091 |
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A002B08 |
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RIMS4__5501 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_001205317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_182970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK055698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK095716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK124626 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK126807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL118522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY326954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC036612 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC104190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC104191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC112985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU167487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001205317 ⟹ NP_001192246 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
CAAGCTGCCCAAGCCGCCCGCCGCCGCCGCCGCCGCCGCGGCCGAGGCGCCCGGCGCCGGCGCGhide sequence |
RefSeq Acc Id: | NM_182970 ⟹ NP_892015 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CAAGCTGCCCAAGCCGCCCGCCGCCGCCGCCGCCGCCGCGGCCGAGGCGCCCGGCGCCGGCGCGhide sequence |
Protein RefSeqs | NP_001192246 | (Get FASTA) | NCBI Sequence Viewer |
NP_892015 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI04191 | (Get FASTA) | NCBI Sequence Viewer |
AAI04192 | (Get FASTA) | NCBI Sequence Viewer | |
AAI12986 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ01681 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75897 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75898 | (Get FASTA) | NCBI Sequence Viewer | |
EAW75899 | (Get FASTA) | NCBI Sequence Viewer | |
Q9H426 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_892015 ⟸ NM_182970 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9H426 (UniProtKB/Swiss-Prot) |
- Sequence: |
MERSQSRLSLSASFEALAIYFPCMNSFDDEDAGDSRRLKGAIQRSTETGLAVEMPSRTLRQASHhide sequence |
RefSeq Acc Id: | NP_001192246 ⟸ NM_001205317 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9H426 (UniProtKB/Swiss-Prot) |
- Sequence: |
MERSQSRLSLSASFEALAIYFPCMNSFDDEDAEGDSRRLKGAIQRSTETGLAVEMPSRTLRQAShide sequence |
RGD ID: | 6815374 | |||||||||
Promoter ID: | HG_MRA:9942 | |||||||||
Type: | Non-CpG | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | HeLa_S3 | |||||||||
Transcripts: | AK055698 | |||||||||
Position: |
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RGD ID: | 13207017 | |||||||||
Promoter ID: | EPDNEW_H27089 | |||||||||
Type: | initiation region | |||||||||
Name: | RIMS4_1 | |||||||||
Description: | regulating synaptic membrane exocytosis 4 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053035]|Abnormality of the heart [RCV000053036]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053035]|See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
NM_001205317.1(RIMS4):c.97+4579G>T | single nucleotide variant | Lung cancer [RCV000101606] | Chr20:44805596 [GRCh38] Chr20:43434237 [GRCh37] Chr20:20q13.12 |
uncertain significance |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 | copy number loss | See cases [RCV000140816] | Chr20:35237946..47631818 [GRCh38] Chr20:33825749..46260562 [GRCh37] Chr20:33289165..45693969 [NCBI36] Chr20:20q11.22-13.12 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:16183 | AgrOrtholog |
COSMIC | RIMS4 | COSMIC |
Ensembl Genes | ENSG00000101098 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000361942 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000439287 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000372851 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000541604 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.150 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000101098 | GTEx |
HGNC ID | HGNC:16183 | ENTREZGENE |
Human Proteome Map | RIMS4 | Human Proteome Map |
InterPro | C2_dom | UniProtKB/Swiss-Prot |
C2_domain_sf | UniProtKB/Swiss-Prot | |
Rim-like | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:140730 | UniProtKB/Swiss-Prot |
NCBI Gene | 140730 | ENTREZGENE |
OMIM | 611601 | OMIM |
PANTHER | PTHR12157 | UniProtKB/Swiss-Prot |
Pfam | PF00168 | UniProtKB/Swiss-Prot |
PharmGKB | PA25733 | PharmGKB |
PROSITE | PS50004 | UniProtKB/Swiss-Prot |
SMART | SM00239 | UniProtKB/Swiss-Prot |
UniGene | Hs.517065 | ENTREZGENE |
UniProt | Q3MI43_HUMAN | UniProtKB/TrEMBL |
Q9H426 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A4FU94 | UniProtKB/Swiss-Prot |
E1P613 | UniProtKB/Swiss-Prot | |
Q3MI44 | UniProtKB/Swiss-Prot | |
Q5JWT7 | UniProtKB/Swiss-Prot |
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More on RIMS4 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1350639 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.