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TVP23C-CDRT4 TVP23C-CDRT4 readthrough [ Homo sapiens (human) ]

Gene ID: 100533496, updated on 25-Jan-2022

Summary

Official Symbol
TVP23C-CDRT4provided by HGNC
Official Full Name
TVP23C-CDRT4 readthroughprovided by HGNC
Primary source
HGNC:HGNC:42961
See related
Ensembl:ENSG00000259024 AllianceGenome:HGNC:42961
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
TVP23C; FAM18B2; FAM18B2-CDRT4
Summary
This locus represents naturally occurring readthrough transcription between the neighboring TVP23C (trans-golgi network vesicle protein 23 homolog) and CDRT4 (CMT1A duplicated region transcript 4) genes on chromosome 17. Alternative splicing results in multiple transcript variants, one of which encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues See more
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Genomic context

See TVP23C-CDRT4 in Genome Data Viewer
Location:
17p12
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15436015..15563483, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15339332..15466797, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 799, pseudogene Neighboring gene tektin 3 Neighboring gene RNA, 7SL, cytoplasmic 792, pseudogene Neighboring gene CMT1A duplicated region transcript 4 Neighboring gene ribosomal protein L9 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 550 Neighboring gene CMT1A duplicated region transcript 3 Neighboring gene trans-golgi network vesicle protein 23 homolog C Neighboring gene peptidylprolyl isomerase A pseudogene 53 Neighboring gene proximal CMT1A-REP Neighboring gene F-box and WD repeat domain containing 10B Neighboring gene tripartite motif containing 16 Neighboring gene zinc finger protein 29, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
uncharacterized protein LOC100533496
Names
FAM18B2-CDRT4 readthrough
Golgi apparatus membrane protein TVP23 homolog C

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_001204478.2NP_001191407.1  uncharacterized protein LOC100533496

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is protein-coding.
    Source sequence(s)
    AB074181, AC005838, CB850543
    Consensus CDS
    CCDS56021.1
    UniProtKB/Swiss-Prot
    Q96ET8
    UniProtKB/TrEMBL
    A0A0A6YYB9
    Related
    ENSP00000429865.1, ENST00000522212.6
    Conserved Domains (1) summary
    pfam05832
    Location:32154
    DUF846; Eukaryotic protein of unknown function (DUF846)

RNA

  1. NR_037924.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005517, AC005838, CB850543, DA796743

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    15436015..15563483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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