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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.

Additional gene information for RESP18 Gene

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

GeneHancer (GH) Regulatory Elements for RESP18 Gene

Promoters and enhancers for RESP18 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
GH02I219333 Promoter 0.6 EPDnew 550.8 +3.6 3645 0.1 EZH2 RESP18 PTPRN
GH02I219244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.6 +86.7 86667 11.2 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 GLB1L TUBA4A STK16 ZFAND2B ANKZF1 ATG9A DNAJB2 MIR153-1 PTPRN ENSG00000230432
GH02I219368 Enhancer 1.1 Ensembl ENCODE 10.9 -32.5 -32521 2.4 FOXA2 FEZF1 ZNF2 GATA2 ZNF416 KLF7 RXRA YY2 REST TSHZ1 LOC105373883 ZNF142 STK36 CNOT9 RNF25 ENSG00000269068 STK11IP ENSG00000268896 ANKZF1 OBSL1
GH02I219110 Enhancer 1.1 ENCODE dbSUPER 10.2 +224.5 224503 3 ELF3 FOXA2 MLX ARID4B THRB ZNF48 ZSCAN9 RAD21 RARA YY1 IHH LOC100129175 MIR375 FEV CRYBA2 LINC00608 PTPRN NHEJ1 CDK5R2 ENSG00000235024
GH02I219116 Enhancer 1 ENCODE dbSUPER 10.2 +219.8 219811 0.2 ELF3 FOXA2 MLX ARID4B THRB RAD21 YY1 SLC30A9 CREM THAP11 IHH LOC100129175 MIR375 NHEJ1 SLC23A3 RESP18 PIR54382 ENSG00000280537
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RESP18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RESP18 gene promoter:

Genomic Locations for RESP18 Gene

Genomic Locations for RESP18 Gene
chr2:219,327,409-219,336,785
(GRCh38/hg38)
Size:
9,377 bases
Orientation:
Minus strand
chr2:220,192,131-220,197,899
(GRCh37/hg19)

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

Gene Families for RESP18 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for RESP18 Gene

Molecular function for RESP18 Gene

UniProtKB/Swiss-Prot Function:
May play an important regulatory role in corticotrophs.

Phenotypes From GWAS Catalog for RESP18 Gene

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

Clone 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 IBA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with RESP18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RESP18 Gene

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

None

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:

Clone 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

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 33 34
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia RESP18 33 34
  • 81.12 (n)
rat
(Rattus norvegicus)
Mammalia Resp18 33
  • 74.17 (n)
mouse
(Mus musculus)
Mammalia Resp18 33 16 34
  • 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 Variation AA Info Type
rs1000102781 -- 219,327,400(-) C/T downstream_transcript_variant
rs1000105538 -- 219,336,433(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000154315 -- 219,336,785(-) A/G upstream_transcript_variant
rs1000598062 -- 219,332,657(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant, upstream_transcript_variant
rs1000955954 -- 219,328,379(-) C/T 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)

Additional Variant Information 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

Additional Disease Information for 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 AL (The Journal of endocrinology 2007) 2 3 4 22 58
  2. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. (PMID: 7988462) Bloomquist BT … Eipper BA (Endocrinology 1994) 2 3 58
  3. Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain. (PMID: 26836020) Sosa L … Ermácora MR (Biochimica et biophysica acta 2016) 3 58
  4. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. (PMID: 23319378) Huang Y … Huang F (Neurotoxicity research 2013) 3 58
  5. Proteomic profiling in pancreatic cancer with and without lymph node metastasis. (PMID: 19152423) Cui Y … Han J (International journal of cancer 2009) 22 58

Products for RESP18 Gene

Sources for RESP18 Gene

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