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    MEX3C mex-3 RNA binding family member C [ Homo sapiens (human) ]

    Gene ID: 51320, updated on 9-Dec-2024

    Summary

    Official Symbol
    MEX3Cprovided by HGNC
    Official Full Name
    mex-3 RNA binding family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:28040
    See related
    Ensembl:ENSG00000176624 MIM:611005; AllianceGenome:HGNC:28040
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RKHD2; BM-013; MEX-3C; RNF194
    Summary
    This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
    Expression
    Broad expression in testis (RPKM 32.6), lymph node (RPKM 11.1) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MEX3C in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (51174550..51197681, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (51376318..51399436, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (48700920..48724051, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48556194-48556812 Neighboring gene SMAD family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:48636043-48636544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:48636545-48637044 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:48663303-48664282 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:48664283-48665261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48690189-48690688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:48694526-48695106 Neighboring gene serine and arginine rich splicing factor 10 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 125 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:48722055-48722676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9469 Neighboring gene RNA, U1 small nuclear 46, pseudogene Neighboring gene long intergenic non-protein coding RNA 1630 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:48943905-48944452 Neighboring gene SS18 like 2 pseudogene 2

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38871

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chondrocyte hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in energy homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RNA-binding E3 ubiquitin-protein ligase MEX3C
    Names
    RING finger and KH domain-containing protein 2
    RING finger protein 194
    RING-type E3 ubiquitin transferase MEX3C
    RNA-binding protein MEX3C
    ring finger and KH domain containing 2
    NP_057710.3
    XP_047293496.1
    XP_054174652.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_015801.1 RefSeqGene

      Range
      5001..28132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016626.5NP_057710.3  RNA-binding E3 ubiquitin-protein ligase MEX3C

      See identical proteins and their annotated locations for NP_057710.3

      Status: REVIEWED

      Source sequence(s)
      AC090330, AY950679, BC063244
      Consensus CDS
      CCDS11951.2
      UniProtKB/Swiss-Prot
      A1L022, Q5U5Q3, Q9NZE3
      Related
      ENSP00000385610.3, ENST00000406189.4
      Conserved Domains (3) summary
      smart00322
      Location:326391
      KH; K homology RNA-binding domain
      cd00105
      Location:233294
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
      pfam13920
      Location:608653
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      51174550..51197681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437540.1XP_047293496.1  RNA-binding E3 ubiquitin-protein ligase MEX3C isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      51376318..51399436 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318677.1XP_054174652.1  RNA-binding E3 ubiquitin-protein ligase MEX3C isoform X1