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RNF103-CHMP3 RNF103-CHMP3 readthrough [ Homo sapiens (human) ]

Gene ID: 100526767, updated on 23-Nov-2021

Summary

Official Symbol
RNF103-CHMP3provided by HGNC
Official Full Name
RNF103-CHMP3 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38847
See related
Ensembl:ENSG00000249884
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
NEDF; CHMP3; VPS24; CGI149; hVps24; RNF103-VPS24
Summary
This locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]
Expression
Ubiquitous expression in esophagus (RPKM 39.0), thyroid (RPKM 37.6) and 25 other tissues See more
Orthologs
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Genomic context

See RNF103-CHMP3 in Genome Data Viewer
Location:
2p11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (86503430..86721122, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (86730553..86948245, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10790 Neighboring gene receptor accessory protein 1 Neighboring gene lysine demethylase 3A Neighboring gene RNA, U6 small nuclear 640, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1991 Neighboring gene charged multivesicular body protein 3 Neighboring gene CHMP3 and RNF103 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 3990 Neighboring gene ring finger protein 103 Neighboring gene required for meiotic nuclear division 5 homolog A Neighboring gene CD8A intronic regulatory region Neighboring gene uncharacterized LOC105374846 Neighboring gene CD8a molecule Neighboring gene CD8b molecule

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
RNF103-CHMP3 protein
Names
Charged multivesicular body protein 3
Chromatin-modifying protein 3
Neuroendocrine differentiation factor
RNF103-CHMP3 read-through
RNF103-VPS24 readthrough
Vacuolar protein sorting-associated protein 24

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_001198954.1NP_001185883.1  RNF103-CHMP3 protein

    See identical proteins and their annotated locations for NP_001185883.1

    Status: VALIDATED

    Source sequence(s)
    AC015971, AC068288, AK294389
    Consensus CDS
    CCDS56128.1
    UniProtKB/Swiss-Prot
    Q9Y3E7
    Related
    ENSP00000474823.1, ENST00000604011.5
    Conserved Domains (1) summary
    pfam03357
    Location:47216
    Snf7; Snf7

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    86503430..86721122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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