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    TVP23C trans-golgi network vesicle protein 23 homolog C [ Homo sapiens (human) ]

    Gene ID: 201158, updated on 2-May-2024

    Summary

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    Official Symbol
    TVP23Cprovided by HGNC
    Official Full Name
    trans-golgi network vesicle protein 23 homolog Cprovided by HGNC
    Primary source
    HGNC:HGNC:30453
    See related
    Ensembl:ENSG00000175106 AllianceGenome:HGNC:30453
    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
    Also known as
    FAM18B2
    Summary
    Predicted to be involved in protein secretion and vesicle-mediated transport. Predicted to be integral component of membrane. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.5), adrenal (RPKM 5.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    17p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15502264..15563483, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15408496..15469716, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15405578..15466797, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TVP23C-CDRT4 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15351635-15352136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15352137-15352636 Neighboring gene CMT1A duplicated region transcript 4 Neighboring gene ribosomal protein L9 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 Neighboring gene CMT1A duplicated region transcript 3 Neighboring gene Sharpr-MPRA regulatory region 6604 Neighboring gene peptidylprolyl isomerase A pseudogene 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15439327-15439826 Neighboring gene NANOG hESC enhancer GRCh37_chr17:15443919-15444544 Neighboring gene proximal CMT1A-REP Neighboring gene F-box and WD repeat domain containing 10B Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:15495673-15496196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15545644-15546230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15546231-15546817 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:15547662-15548477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11743 Neighboring gene tripartite motif containing 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:15554223-15555172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15562775-15563277 Neighboring gene zinc finger protein 29, pseudogene

    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. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. Choi JH, et al. Science, 2019 May 10. PMID 31073040, Free PMC Article
    2. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
    3. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8763

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Golgi apparatus membrane protein TVP23 homolog C
    Names
    family with sequence similarity 18, member B2
    protein FAM18B2

    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_001135036.2 → NP_001128508.1  Golgi apparatus membrane protein TVP23 homolog C isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC005838, AK310363, BU754306
      Consensus CDS
      CCDS45617.1
      UniProtKB/TrEMBL
      J3KS67
      Related
      ENSP00000464052.1, ENST00000518321.6
      Conserved Domains (1) summary
      pfam05832
      Location:32 → 174
      DUF846; Eukaryotic protein of unknown function (DUF846)

    2. NM_145301.3 → NP_660344.2  Golgi apparatus membrane protein TVP23 homolog C isoform 1

      See identical proteins and their annotated locations for NP_660344.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AC005517, AC005838, BC011952, BQ448398
      Consensus CDS
      CCDS11170.1
      UniProtKB/Swiss-Prot
      Q3LIC7, Q96ET8
      Related
      ENSP00000225576.3, ENST00000225576.7
      Conserved Domains (1) summary
      pfam05832
      Location:32 → 154
      DUF846; Eukaryotic protein of unknown function (DUF846)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      15502264..15563483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      15408496..15469716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ET8.3 GenPept UniProtKB/Swiss-Prot:Q96ET8

    Gene LinkOut

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

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