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RESP18 Gene

protein-coding   GIFtS: 35
GCID: GC02M220192

Regulated Endocrine-Specific Protein 18

(Previous name: regulated endocrine-specific protein 18 homolog (rat))
  Search for RESP18
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Regulated Endocrine-Specific Protein 181 2
Regulated Endocrine-Specific Protein 18 Homolog (Rat)1
Regulated Endocrine-Specific Protein 18 Homolog2

External Ids:    HGNC: 337621   Entrez Gene: 3890752   Ensembl: ENSG000001826987   OMIM: 6127215   UniProtKB: Q5W5W93   

Export aliases for RESP18 gene to outside databases

Previous GC identifers: GC02M220018 GC02M219900 GC02M212045


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RESP18 Gene:
RESP18 (regulated endocrine-specific protein 18) is a protein-coding gene.

UniProtKB/Swiss-Prot: RES18_HUMAN, Q5W5W9
Function: May play an important regulatory role in corticotrophs (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the RESP18 gene promoter:
         HFH-3   FOXO3   LCR-F1   NF-E2 p45   YY1   FOXI1   POU2F1   POU2F1a   FOXO3a   NF-E2   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RESP18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

RESP18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RESP18 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220192:  view genomic region     (about GC identifiers)

Start:
220,192,131 bp from pter      End:
220,197,899 bp from pter
Size:
5,769 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RES18_HUMAN, Q5W5W9 (See protein sequence)
Recommended Name: Regulated endocrine-specific protein 18 precursor  
Size: 173 amino acids; 19021 Da
Secondary accessions: A8MQ49 Q38I23 Q5W5X0
Alternative splicing: 3 isoforms:  Q5W5W9-1   Q5W5W9-2   Q5W5W9-3   

Explore the universe of human proteins at neXtProt for RESP18: NX_Q5W5W9

Explore proteomics data for RESP18 at MOPED


See RESP18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001007090.3  
ENSEMBL proteins: 
 ENSP00000375933   ENSP00000330269  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR024833 RESP18

Graphical View of Domain Structure for InterPro Entry Q5W5W9

ProtoNet protein and cluster: Q5W5W9

UniProtKB/Swiss-Prot: RES18_HUMAN, Q5W5W9
Similarity: Belongs to the RESP18 family


Find genes that share domains with RESP18           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: RES18_HUMAN, Q5W5W9
Function: May play an important regulatory role in corticotrophs (By similarity)

Phenotypes:
     1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Resp18):

 mortality/aging 

Find genes that share phenotypes with RESP18           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Resp18tm1Mlit for RESP18

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
RES18_HUMAN, Q5W5W9: Secreted (By similarity). Endoplasmic reticulum (By similarity). Golgi apparatus (By
similarity). Note=Found in the lumen of dense core vesicles (DCV) (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
endoplasmic reticulum2
extracellular2
golgi apparatus2

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--
GO:0005783endoplasmic reticulum ----
GO:0005794Golgi apparatus IEA--
GO:0030141secretory granule IEA--
GO:0043204perikaryon IEA--

Find genes that share ontologies with RESP18           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RESP18
Interactions:

    Search GeneGlobe Interaction Network for RESP18

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001701in utero embryonic development IEA--

Find genes that share ontologies with RESP18           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RESP18 (RES18)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for RESP18 gene: 
NM_001007089.3  

Unigene Cluster for RESP18:

Regulated endocrine-specific protein 18
Hs.290551  [show with all ESTs]
Unigene Representative Sequence: DQ227570
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000470719(uc002vlb.3) ENST00000392083 ENST00000333527(uc010zle.2 uc002vlc.4)

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Additional mRNA sequence: 

AF437883.3 AF439399.1 DQ227570.1 

2 DOTS entries:

DT.120958908  DT.429411 

2 AceView cDNA sequences:

AA719801 AA907545 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for RESP18    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
SP1:        -                             -         
SP2:        -                 -                     
SP3:                          -                     


ECgene alternative splicing isoforms for RESP18

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RESP18 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
RESP18 Expression
About this image


RESP18 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 14 entries
         Thalamus
         Midbrain   
 
 Neurons
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Eye (Sensory Organs)    fully expand to see all 2 entries
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Spinal Cord (Nervous System)
RESP18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RESP18 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.290551

UniProtKB/Swiss-Prot: RES18_HUMAN, Q5W5W9
Tissue specificity: Pancreas. Found in alpha, beta and delta cells in the pancreatic islets

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RESP18

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for RESP18 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Resp181 , 5 regulated endocrine-specific protein 181, 5 72.78(n)1
57.5(a)1
  1 (38.65 cM)5
197111  NM_009049.11  NP_033075.11 
 752721995 


ENSEMBL Gene Tree for RESP18 (if available)
TreeFam Gene Tree for RESP18 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RESP18 gene
1 SIMAP similar gene for RESP18 using alignment to 2 protein entries:     RES18_HUMAN (see all proteins):
PTPRN

Find genes that share paralogs with RESP18           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RESP18 (see all 203)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs598588201,2
C--212050876(+) ATATA-/TAATATT 1 -- int11Minor allele frequency- TA:0.00NA 2
rs67517141,2
C,F,A,H--220191861(+) TCCCCA/GTAACG 1 -- ds500125Minor allele frequency- G:0.49NA NS EA WA CSA 2487
rs1456598701,2
C--220191912(+) TGGCT-/GGGGTT 1 -- ds50010--------
rs1417354991,2
C--220191966(+) CACTCC/TGGGAA 1 -- ds50010--------
rs1153376731,2
F--220191967(+) ACTCCG/AGGAAT 1 -- ds50011Minor allele frequency- A:0.01WA 118
rs1908261271,2
--220192059(+) GGTCCC/TACCTC 1 -- ds50010--------
rs1931018861,2
--220192135(+) TTGCAC/TGAGAG 1 -- ut310--------
rs1505522201,2
--220192225(+) GCTTCA/CCATGA 1 -- ut310--------
rs1851198361,2
--220192283(+) GAGAAG/TCCCTA 2 I L mis10--------
rs1891360861,2
--220192369(+) ATACTA/GTAGTA 1 -- int10--------

HapMap Linkage Disequilibrium report for RESP18 (220192131 - 220197899 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for RESP18:    About this table    
Variant IDTypeSubtypePubMed ID
esv271296CNV Insertion20981092
nsv508885CNV Insertion20534489
esv272565CNV Insertion20981092
nsv834543CNV Loss17160897
nsv527936CNV Loss19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 612721    OMIM disorders: --


Find genes that share disorders with RESP18           About GenesLikeMe


Export disorders for RESP18 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for RESP18 gene integrated from 10 sources:
(articles sorted by number of sources associating them with RESP18)
    Utopia: connect your pdf to the dynamic
world of online information

  1. RESP18, a homolog of the luminal domain IA-2, is found in dense core vesicles in pancreatic islet cells and is induced by high glucose. (PubMed id 17951542)1, 2, 3, 9 Zhang G.... Notkins A.L. (J. Endocrinol. 2007)
  2. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. (PubMed id 7988462)1, 3 Bloomquist B.T....Eipper B.A. (Endocrinology 1994)
  3. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. (PubMed id 23319378)1 Huang Y....Huang F. (Neurotox Res 2013)
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  5. Proteomic profiling in pancreatic cancer with and without lymph node metastasis. (PubMed id 19152423)9 Cui Y....Han J. (Int. J. Cancer 2009)
  6. Computational study for protein-protein docking using global optimization and empirical potentials. (PubMed id 19325720)9 Lee K. (Int J Mol Sci 2008)
  7. Protein-protein interactions: hot spots and structurally conserved residues often locate in complemented pockets that pre-organized in the unbound states: implications for docking. (PubMed id 15533445)9 Li X....Liang J. (J. Mol. Biol. 2004)
  8. Identification by differential display of eight known genes induced during in vivo intimal hyperplasia. (PubMed id 9609992)9 Itoh M....Tanaka T. (J. Hum. Genet. 1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 389075 HGNC: 33762 AceView: LOC389075 Ensembl:ENSG00000182698 euGenes: HUgn389075
ECgene: RESP18 H-InvDB: RESP18

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for RESP18 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for RESP18 gene:
Search GeneIP for patents involving RESP18

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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