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Aliases for RESP18 Gene

Aliases for RESP18 Gene

  • Regulated Endocrine Specific Protein 18 2 3 5
  • Regulated Endocrine-Specific Protein 18 Homolog (Rat) 2
  • Regulated Endocrine-Specific Protein 18 2

External Ids for RESP18 Gene

Previous GeneCards Identifiers for RESP18 Gene

  • GC02M220018
  • GC02M219900
  • GC02M220192
  • GC02M212045

Summaries for RESP18 Gene

GeneCards Summary for RESP18 Gene

RESP18 (Regulated Endocrine Specific Protein 18) is a Protein Coding gene.

UniProtKB/Swiss-Prot for RESP18 Gene

  • May play an important regulatory role in corticotrophs.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RESP18 Gene

Genomics for RESP18 Gene

Regulatory Elements for RESP18 Gene

Enhancers for RESP18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G219244 1.4 ENCODE dbSUPER 10.6 +86.7 86668 11.3 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 GLB1L ZFAND2B ATG9A ANKZF1 TUBA4A DNAJB2 MIR153-1 PTPRN ENSG00000230432 RETREG2
GH02G219368 1.2 Ensembl ENCODE 10.9 -32.5 -32521 2.4 FOXA2 FEZF1 ZNF2 GATA2 ZNF416 KLF7 YY2 REST TSHZ1 ZNF488 RNF25 CNOT9 STK36 ANKZF1 ENSG00000269068 RESP18 ASIC4 TMEM198 PTPRN SPEG
GH02G219110 1.2 ENCODE dbSUPER 10.2 +224.5 224504 3.0 ELF3 FOXA2 ATF1 MLX ARID4B THRB ZNF48 ZSCAN9 RAD21 RARA IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 PTPRN NHEJ1 SLC23A3 CDK5R2
GH02G219116 1.1 ENCODE dbSUPER 10.2 +219.8 219812 0.2 ELF3 FOXA2 MLX ARID4B THRB RAD21 YY1 SLC30A9 CREM THAP11 IHH LOC100129175 MIR375 NHEJ1 SLC23A3 RESP18 PIR54382
GH02G219344 0.5 Ensembl 21.7 -8.0 -7956 0.7 NFIC NFIA MNT RESP18 PTPRN SLC23A3 NHEJ1 IHH ENSG00000232789
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RESP18 on UCSC Golden Path with GeneCards custom track

Genomic Location for RESP18 Gene

Chromosome:
2
Start:
219,327,409 bp from pter
End:
219,336,785 bp from pter
Size:
9,377 bases
Orientation:
Minus strand

Genomic View for RESP18 Gene

Genes around RESP18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RESP18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RESP18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RESP18 Gene

Proteins for RESP18 Gene

  • Protein details for RESP18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5W5W9-RES18_HUMAN
    Recommended name:
    Regulated endocrine-specific protein 18
    Protein Accession:
    Q5W5W9
    Secondary Accessions:
    • A8MQ49
    • Q38I23
    • Q5W5X0

    Protein attributes for RESP18 Gene

    Size:
    173 amino acids
    Molecular mass:
    19021 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RESP18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RESP18 Gene

Post-translational modifications for RESP18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RESP18 Gene

No data available for DME Specific Peptides for RESP18 Gene

Domains & Families for RESP18 Gene

Protein Domains for RESP18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RESP18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5W5W9

UniProtKB/Swiss-Prot:

RES18_HUMAN :
  • Belongs to the RESP18 family.
Family:
  • Belongs to the RESP18 family.
genes like me logo Genes that share domains with RESP18: view

No data available for Gene Families for RESP18 Gene

Function for RESP18 Gene

Molecular function for RESP18 Gene

UniProtKB/Swiss-Prot Function:
May play an important regulatory role in corticotrophs.
genes like me logo Genes that share phenotypes with RESP18: view

Animal Models for RESP18 Gene

MGI Knock Outs for RESP18:

Animal Model Products

  • Taconic Biosciences Mouse Models for RESP18

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RESP18 Gene

Localization for RESP18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RESP18 Gene

Secreted. Endoplasmic reticulum. Golgi apparatus. Note=Found in the lumen of dense core vesicles (DCV). {ECO:0000250}.

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 RESP18 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
golgi apparatus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for RESP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IEA,IBA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with RESP18: view

Pathways & Interactions for RESP18 Gene

SuperPathways for RESP18 Gene

No Data Available

Interacting Proteins for RESP18 Gene

Gene Ontology (GO) - Biological Process for RESP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with RESP18: view

No data available for Pathways by source and SIGNOR curated interactions for RESP18 Gene

Drugs & Compounds for RESP18 Gene

No Compound Related Data Available

Transcripts for RESP18 Gene

mRNA/cDNA for RESP18 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RESP18 Gene

Regulated endocrine-specific protein 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RESP18 Gene

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

Relevant External Links for RESP18 Gene

GeneLoc Exon Structure for
RESP18
ECgene alternative splicing isoforms for
RESP18

Expression for RESP18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RESP18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RESP18 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x15.4), Brain - Putamen (basal ganglia) (x13.1), and Brain - Caudate (basal ganglia) (x12.5).

Protein differential expression in normal tissues from HIPED for RESP18 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RESP18 Gene



Protein tissue co-expression partners for RESP18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RESP18 Gene:

RESP18

SOURCE GeneReport for Unigene cluster for RESP18 Gene:

Hs.290551

mRNA Expression by UniProt/SwissProt for RESP18 Gene:

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

Evidence on tissue expression from TISSUES for RESP18 Gene

  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with RESP18: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RESP18 Gene

Orthologs for RESP18 Gene

This gene was present in the common ancestor of mammals.

Orthologs for RESP18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RESP18 34 35
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia RESP18 34 35
  • 81.12 (n)
rat
(Rattus norvegicus)
Mammalia Resp18 34
  • 74.17 (n)
mouse
(Mus musculus)
Mammalia Resp18 34 16 35
  • 72.78 (n)
Species where no ortholog for RESP18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RESP18 Gene

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

Paralogs for RESP18 Gene

(1) SIMAP similar genes for RESP18 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RESP18: view

No data available for Paralogs for RESP18 Gene

Variants for RESP18 Gene

Sequence variations from dbSNP and Humsavar for RESP18 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000102781 -- 219,327,400(+) ACAAA(C/T)TCAGT downstream-variant-500B
rs1000105538 -- 219,336,433(+) CTATA(C/T)TCTTG upstream-variant-2KB, utr-variant-5-prime
rs1000154315 -- 219,336,785(+) GAGTT(A/G)TGTAA upstream-variant-2KB
rs1000598062 -- 219,332,657(+) CTCCC(C/G)GGCCA intron-variant, upstream-variant-2KB, reference, synonymous-codon
rs1000955954 -- 219,328,379(+) TCTGC(C/T)TCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RESP18 Gene

Variant ID Type Subtype PubMed ID
esv3307020 CNV mobile element insertion 20981092
esv3308291 CNV mobile element insertion 20981092
esv3327972 CNV insertion 20981092
esv3377573 CNV insertion 20981092
esv3414630 CNV insertion 20981092
nsv508885 CNV insertion 20534489
nsv527936 CNV loss 19592680
nsv834543 CNV loss 17160897

Variation tolerance for RESP18 Gene

Gene Damage Index Score: 14.09; 96.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RESP18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RESP18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RESP18 Gene

Disorders for RESP18 Gene

Relevant External Links for RESP18

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RESP18

No disorders were found for RESP18 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RESP18 Gene

Publications for RESP18 Gene

  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. (PMID: 17951542) Zhang G. … Notkins A.L. (J. Endocrinol. 2007) 2 3 4 22 64
  2. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. (PMID: 7988462) Bloomquist B.T. … Eipper B.A. (Endocrinology 1994) 2 3 64
  3. Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain. (PMID: 26836020) Sosa L. … ErmA!cora M.R. (Biochim. Biophys. Acta 2016) 3 64
  4. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. (PMID: 23319378) Huang Y. … Huang F. (Neurotox Res 2013) 3 64
  5. Proteomic profiling in pancreatic cancer with and without lymph node metastasis. (PMID: 19152423) Cui Y. … Han J. (Int. J. Cancer 2009) 22 64

Products for RESP18 Gene

Sources for RESP18 Gene

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