Aliases for RESP18 Gene

Aliases for RESP18 Gene

  • Regulated Endocrine Specific Protein 18 2 3 5
  • Regulated Endocrine-Specific Protein 18 2 3 4
  • Regulated Endocrine-Specific Protein 18 Homolog (Rat) 2
  • Regulated Endocrine-Specific Protein 18 Homolog 3
  • RESP18 5

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. Diseases associated with RESP18 include Acrocapitofemoral Dysplasia and Isolated Growth Hormone Deficiency, Type Ii.

UniProtKB/Swiss-Prot Summary for RESP18 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RESP18 Gene

Genomics for RESP18 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH02J219335 Enhancer 0.5 Ensembl 272.7 -1.0 -966 0.6 NFE2 CREB1 RAD21 FOS RFX1 MAFK POLR2A RESP18 GLB1L LOC107985835 HSALNG0022368 DNPEP
GH02J219332 Enhancer 0.3 Ensembl 262.4 +0.2 234 0.6 SPI1 RESP18 GLB1L HSALNG0022367 HSALNG0022368 PTPRN
GH02J219245 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +84.6 84564 11.5 BCLAF1 SP1 IKZF1 MYC ZNF600 SSRP1 ZNF580 ZNF592 ZMYM3 ATF2 GLB1L TUBA4A STK16 ZFAND2B DES ENSG00000234638 ANKZF1 ATG9A DNAJB2 MIR153-1
GH02J219362 Enhancer 0.9 Ensembl ENCODE 19.7 -28.3 -28266 1.6 ZNF600 JUND ZIC2 MNT PAX8 IRF4 EBF1 BATF ZFP37 IKZF1 HSALNG0022370 HSALNG0022371 lnc-RESP18-3 RESP18 PTPRN MIR153-1 TUBA4A DNAJB2 TUBA4B SPEG
GH02J219320 Enhancer 0.7 Ensembl 20.9 +13.2 13234 1.4 ZNF654 ZNF580 KLF7 ZNF623 ZNF433 ZFP37 REST ZNF664 ZNF514 ZNF518A STK36 CNOT9 BCS1L USP37 ZNF142 ANKZF1 RESP18 NHEJ1 STK11IP SLC23A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RESP18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RESP18

Top Transcription factor binding sites by QIAGEN in the RESP18 gene promoter:
  • FOXI1
  • FOXO3
  • FOXO3a
  • HFH-3
  • LCR-F1
  • NF-E2
  • NF-E2 p45
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for RESP18 Gene

Latest Assembly
chr2:219,327,407-219,334,535
(GRCh38/hg38)
Size:
7,129 bases
Orientation:
Minus strand

Previous Assembly
chr2:220,192,129-220,197,899
(GRCh37/hg19 by Entrez Gene)
Size:
5,771 bases
Orientation:
Minus strand

chr2:220,192,131-220,197,899
(GRCh37/hg19 by Ensembl)
Size:
5,769 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:
    228 amino acids
    Molecular mass:
    24956 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ04549.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: May be due to intron retention.

    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:

Suggested Antigen Peptide Sequences for RESP18 Gene

GenScript: Design optimal peptide antigens:
  • Regulated endocrine-specific protein 18 (RES18_HUMAN)

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 Models for research

  • Taconic Biosciences Mouse Models for RESP18

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESP18

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

Endoplasmic reticulum. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle lumen. Note=Found in the lumen of secretory vesicles (dense core vesicles, DCV). However, seems to be retained intracellularly and not secreted. {ECO:0000250 UniProtKB:P47939, ECO:0000250 UniProtKB:P47940}.

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
golgi apparatus 3
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RESP18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005794 Golgi apparatus IEA --
GO:0031410 cytoplasmic vesicle 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

PathCards logo

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

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RESP18

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

Expression for RESP18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
genes like me logo Genes that share expression patterns with RESP18: view

Primer products for research

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 29 30
  • 98.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RESP18 29 30
  • 81.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Resp18 29
  • 74.17 (n)
Mouse
(Mus musculus)
Mammalia Resp18 29 16 30
  • 72.78 (n)
OneToOne
Species where no ortholog for RESP18 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)
  • 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RESP18: view image
Alliance of Genome Resources:
Additional Orthologs for RESP18

Paralogs for RESP18 Gene

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

  • RES18_HUMAN
  • A8MW94_HUMAN
genes like me logo Genes that share paralogs with RESP18: view

No data available for Paralogs for RESP18 Gene

Variants for RESP18 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RESP18 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RESP18

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RESP18 Gene

Disorders for RESP18 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RESP18 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RESP18

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

No data available for 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
  2. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. (PMID: 7988462) Bloomquist BT … Eipper BA (Endocrinology 1994) 2 3
  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
  4. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. (PMID: 23319378) Huang Y … Huang F (Neurotoxicity research 2013) 3
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3

Products for RESP18 Gene

Sources for RESP18 Gene