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

    Gene ID: 51320, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib. Guo J, et al. BMC Cancer, 2023 Oct 12. PMID 37828435, Free PMC Article
    2. Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene. Guzmán B, et al. Hypertension, 2006 Nov. PMID 17015768
    3. MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14. Cao Y, et al. J BUON, 2020 May-Jun. PMID 32862604
    4. Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma. He Z, et al. J Transl Med, 2024 Feb 29. PMID 38424632, Free PMC Article
    5. The human RNA-binding protein and E3 ligase MEX-3C binds the MEX-3-recognition element (MRE) motif with high affinity. Yang L, et al. J Biol Chem, 2017 Sep 29. PMID 28808060, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma.
      Title: Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma.
    2. MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib.
      Title: MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib.
    3. MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma.
      Title: MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma.
    4. Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity.
      Title: Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity.
    5. MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14.
      Title: MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14.
    6. Data suggest that KH1 and HK2 domains of MEX3C bind with high affinity to MRE10, a 10-mer RNA (5prime-CAGAGUUUAG-3prime) containing an eight-nucleotide MEX3C recognition element motif (AGAGUUUA); 3prime-untranslated region of HLA-A2 mRNA contains such a high affinity binding site for KH domains of MEX3C. (MEX3C = mex-3 RNA binding family member C; HLA-A2 = HLA class I histocompatibility antigen, A-2 alpha chain)
      Title: The human RNA-binding protein and E3 ligase MEX-3C binds the MEX-3-recognition element (MRE) motif with high affinity.
    7. associates with cytoplasmic deadenylation complexes and ubiquitinates CNOT7
      Title: A non-proteolytic role for ubiquitin in deadenylation of MHC-I mRNA by the RNA-binding E3-ligase MEX-3C.
    8. The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation
      Title: The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation.
    9. 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.
    10. In combination sibling-pair linkage analysis and case-control association studies of chromosome 18, RKHD2 is found to contribute to the genetic susceptibility of essential hypertension.
      Title: Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene.
    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

    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

    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

    • 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

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    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)

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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.

    Genomic

    1. NG_015801.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_016626.5 → NP_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:326 → 391
      KH; K homology RNA-binding domain
      cd00105
      Location:233 → 294
      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:608 → 653
      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_047437540.1 → XP_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_054318677.1 → XP_054174652.1  RNA-binding E3 ubiquitin-protein ligase MEX3C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5U5Q3.3 GenPept UniProtKB/Swiss-Prot:Q5U5Q3

    Gene LinkOut

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

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