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

    Gene ID: 389075, updated on 27-Nov-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, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219327407..219336656, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219812175..219821424, complement)
    RS_2024_09 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. Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family. Zhong X, et al. Med Sci Monit, 2024 Jul 6. PMID 38970244, Free PMC Article
    2. RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins in MN9D cells. Huang Y, et al. Neurotox Res, 2013 Aug. PMID 23319378
    3. 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
    4. Biochemical, biophysical, and functional properties of ICA512/IA-2 RESP18 homology domain. Sosa L, et al. Biochim Biophys Acta, 2016 May. PMID 26836020
    5. Regulated endocrine-specific protein-18: a short-lived novel glucocorticoid-regulated endocrine protein. Bloomquist BT, et al. Endocrinology, 1994 Dec. PMID 7988462

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family.
      Title: Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family.
    2. 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.
    3. 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.
    4. 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)

    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_2024_08

    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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