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

Gene ID: 201158, updated on 27-Nov-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 located in membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
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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See TVP23C in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15502264..15563483, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15408496..15469716, complement)
RS_2024_09 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. ER-export and ARFRP1/AP-1-dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication. Pearson GJ, et al. Sci Adv, 2024 Apr 5. PMID 38569033, Free PMC Article
  2. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. Choi JH, et al. Science, 2019 May 10. PMID 31073040, Free PMC Article
  3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
  4. Multilevel proteomics reveals host perturbations by SARS-CoV-2 and SARS-CoV. Stukalov A, et al. Nature, 2021 Jun. PMID 33845483
  5. 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

See all (11) 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)

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_2024_08

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

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