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RESP18 regulated endocrine specific protein 18 [ Homo sapiens (human) ]

Gene ID: 389075, updated on 5-Mar-2024

Summary

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Official Symbol
RESP18provided by HGNC
Official Full Name
regulated endocrine specific protein 18provided by HGNC
Primary source
HGNC:HGNC:33762
See related
Ensembl:ENSG00000182698 MIM:612721; AllianceGenome:HGNC:33762
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to act upstream of or within in utero embryonic development. Predicted to be located in Golgi apparatus and cytoplasmic vesicle. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See RESP18 in Genome Data Viewer
Location:
2q35
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219327407..219336656, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219812175..219821424, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220192129..220197899, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220150891-220151858 Neighboring gene DnaJ heat shock protein family (Hsp40) member B2 Neighboring gene Sharpr-MPRA regulatory region 13803 Neighboring gene protein tyrosine phosphatase receptor type N Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17149 Neighboring gene microRNA 153-1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220199445-220200644 Neighboring gene uncharacterized LOC107985835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17150 Neighboring gene uncharacterized LOC105373883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17151

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. Huang Y, et al. Neurotox Res, 2013 Aug. PMID 23319378
  2. 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. Zhang G, et al. J Endocrinol, 2007 Nov. PMID 17951542
  3. Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain. Sosa L, et al. Biochim Biophys Acta, 2016 May. PMID 26836020
  4. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. Bloomquist BT, et al. Endocrinology, 1994 Dec. PMID 7988462
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RESP18HD is required for efficient sorting of ICA512 to secretory granules: RESP18HD is a key determinant for ICA512 granule targeting.
    Title: Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain.
  2. Over-expression of RESP18 resulted in aggravated cell death induced by dopaminergic neurotoxins.
    Title: RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells.
  3. RESP18 is a luminal protein of DCVs and its expression is regulated by exposure to glucose.
    Title: 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
regulated endocrine-specific protein 18
Names
regulated endocrine-specific protein 18 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001007089.4 → NP_001007090.3  regulated endocrine-specific protein 18

    See identical proteins and their annotated locations for NP_001007090.3

    Status: VALIDATED

    Source sequence(s)
    AC114803, AF437883
    Consensus CDS
    CCDS33382.2
    UniProtKB/Swiss-Prot
    A8MQ49, Q38I23, Q5W5W9, Q5W5X0
    Related
    ENSP00000330269.5, ENST00000333527.6
    Conserved Domains (1) summary
    pfam14948
    Location:79 → 154
    RESP18; RESP18 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    219327407..219336656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444273.1 → XP_047300229.1  regulated endocrine-specific protein 18 isoform X2

  2. XM_047444274.1 → XP_047300230.1  regulated endocrine-specific protein 18 isoform X2

  3. XM_024452881.2 → XP_024308649.2  regulated endocrine-specific protein 18 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    219812175..219821424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341981.1 → XP_054197956.1  regulated endocrine-specific protein 18 isoform X1

  2. XM_054341982.1 → XP_054197957.1  regulated endocrine-specific protein 18 isoform X2

  3. XM_054341983.1 → XP_054197958.1  regulated endocrine-specific protein 18 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5W5W9.2 GenPept UniProtKB/Swiss-Prot:Q5W5W9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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