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] See more...

Aliases for MEX3C Gene

Aliases for MEX3C Gene

  • Mex-3 RNA Binding Family Member C 2 3 5
  • RING Finger And KH Domain-Containing Protein 2 3 4
  • RNA-Binding E3 Ubiquitin-Protein Ligase MEX3C 3 4
  • RING-Type E3 Ubiquitin Transferase MEX3C 3 4
  • Ring Finger And KH Domain Containing 2 2 3
  • RING Finger Protein 194 3 4
  • RNF194 3 4
  • RKHD2 3 4
  • Mex-3 Homolog C (C. Elegans) 2
  • RNA-Binding Protein MEX3C 3
  • MEX3C Variant 1 3
  • MEX3C Variant 2 3
  • EC 2.3.2.27 4
  • BM-013 3
  • MEX-3C 3

External Ids for MEX3C Gene

Previous HGNC Symbols for MEX3C Gene

  • RKHD2

Previous GeneCards Identifiers for MEX3C Gene

  • GC18M046955
  • GC18M048700
  • GC18M045556

Summaries for MEX3C Gene

Entrez Gene Summary for MEX3C Gene

  • 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]

GeneCards Summary for MEX3C Gene

MEX3C (Mex-3 RNA Binding Family Member C) is a Protein Coding gene. Diseases associated with MEX3C include Smallpox and Protoplasmic Astrocytoma. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is MEX3B.

UniProtKB/Swiss-Prot Summary for MEX3C Gene

  • E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation.

Additional gene information for MEX3C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEX3C Gene

Genomics for MEX3C Gene

GeneHancer (GH) Regulatory Elements for MEX3C Gene

Promoters and enhancers for MEX3C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J051189 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 525.8 +23.7 23743 9.4 ZBTB40 EP300 CTCF ZSCAN5C SIN3A NRF1 MYC USF1 POLR2G SP1 MEX3C LOC105372118 SMAD4 CXXC1 MBD1 ELAC1 piR-47244
GH18J051218 Promoter 0.3 EPDnew 500.7 0.0 -42 0.1 MEX3C piR-42694-075
GH18J050277 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17 +938.4 938414 5.4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G SP1 RBAK MBD1 lnc-CXXC1-2 SMAD4 RPL17 CXXC1 ELAC1 MEX3C CFAP53 lnc-CXXC1-3
GH18J050283 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17 +932.0 931974 5.3 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 NRF1 MYC CXXC1 lnc-MBD1-2 SMAD4 MBD1 RPL17 ELAC1 MEX3C DYM CFAP53 lnc-MBD1-1
GH18J051151 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 29.1 +65.3 65252 4 ZBTB40 SIN3A SP1 EP300 CTCF RELA RCOR1 POLR2A BCL11A TCF12 MEX3C ME2 RF00017-2682 piR-39098-094
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEX3C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEX3C

Top Transcription factor binding sites by QIAGEN in the MEX3C gene promoter:
  • aMEF-2
  • AML1a
  • AP-4
  • Arnt
  • C/EBPbeta
  • FOXI1
  • GATA-1
  • HFH-3
  • MEF-2A
  • ZIC2

Genomic Locations for MEX3C Gene

Genomic Locations for MEX3C Gene
chr18:51,174,550-51,218,304
(GRCh38/hg38)
Size:
43,755 bases
Orientation:
Minus strand
chr18:48,700,920-48,744,674
(GRCh37/hg19)
Size:
43,755 bases
Orientation:
Minus strand

Genomic View for MEX3C Gene

Genes around MEX3C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEX3C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEX3C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEX3C Gene

Proteins for MEX3C Gene

  • Protein details for MEX3C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5U5Q3-MEX3C_HUMAN
    Recommended name:
    RNA-binding E3 ubiquitin-protein ligase MEX3C
    Protein Accession:
    Q5U5Q3
    Secondary Accessions:
    • A1L022
    • Q9NZE3

    Protein attributes for MEX3C Gene

    Size:
    659 amino acids
    Molecular mass:
    69366 Da
    Quaternary structure:
    • Interacts with USP7, which antagonizes the ability to degrade mRNA.
    SequenceCaution:
    • Sequence=AAF64269.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAF64269.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MEX3C Gene

neXtProt entry for MEX3C Gene

Post-translational modifications for MEX3C Gene

  • Ubiquitination at Lys309
  • Modification sites at PhosphoSitePlus

Other Protein References for MEX3C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MEX3C Gene

Domains & Families for MEX3C Gene

Gene Families for MEX3C Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MEX3C Gene

Suggested Antigen Peptide Sequences for MEX3C Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 194 (MEX3C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5U5Q3

UniProtKB/Swiss-Prot:

MEX3C_HUMAN :
  • Binds RNA through its KH domains.
Domain:
  • Binds RNA through its KH domains.
genes like me logo Genes that share domains with MEX3C: view

Function for MEX3C Gene

Molecular function for MEX3C Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for MEX3C Gene

Phenotypes From GWAS Catalog for MEX3C Gene

Gene Ontology (GO) - Molecular Function for MEX3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 22863774
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MEX3C: view
genes like me logo Genes that share phenotypes with MEX3C: view

Animal Models for MEX3C Gene

MGI Knock Outs for MEX3C:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MEX3C Gene

Localization for MEX3C Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEX3C Gene

Cytoplasm. Nucleus. Note=Predominantly expressed in the cytoplasm and shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. May act as suppressor of replication stress and chromosome missegregation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEX3C gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MEX3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MEX3C: view

Pathways & Interactions for MEX3C Gene

genes like me logo Genes that share pathways with MEX3C: view

Gene Ontology (GO) - Biological Process for MEX3C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003415 chondrocyte hypertrophy IEA --
GO:0045598 regulation of fat cell differentiation IEA --
GO:0097009 energy homeostasis IEA --
genes like me logo Genes that share ontologies with MEX3C: view

No data available for SIGNOR curated interactions for MEX3C Gene

Drugs & Compounds for MEX3C Gene

(1) Drugs for MEX3C Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bisphosphonates Pharma 0
genes like me logo Genes that share compounds with MEX3C: view

Transcripts for MEX3C Gene

mRNA/cDNA for MEX3C Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MEX3C Gene

No ASD Table

Relevant External Links for MEX3C Gene

GeneLoc Exon Structure for
MEX3C

Expression for MEX3C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEX3C Gene

mRNA differential expression in normal tissues according to GTEx for MEX3C Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for MEX3C Gene

This gene is overexpressed in Testis (25.3), Fetal Brain (18.2), Fetal ovary (13.2), and Ovary (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MEX3C Gene



Protein tissue co-expression partners for MEX3C Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEX3C

SOURCE GeneReport for Unigene cluster for MEX3C Gene:

Hs.465144

mRNA Expression by UniProt/SwissProt for MEX3C Gene:

Q5U5Q3-MEX3C_HUMAN
Tissue specificity: Highest levels found in fetal brain and testis. Also expressed in thymus, salivary gland and uterus. Highly expressed in cells of the innate immune system, in particular activated NK cells. Week expression in the intestine.

Evidence on tissue expression from TISSUES for MEX3C Gene

  • Bone marrow(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with MEX3C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEX3C Gene

Orthologs for MEX3C Gene

This gene was present in the common ancestor of animals.

Orthologs for MEX3C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEX3C 31 30
  • 99.78 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEX3C 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEX3C 31 30
  • 94.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mex3c 30
  • 94.04 (n)
dog
(Canis familiaris)
Mammalia MEX3C 31 30
  • 93.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mex3c 17 31 30
  • 92.22 (n)
oppossum
(Monodelphis domestica)
Mammalia MEX3C 31
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEX3C 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mex3c 30
  • 74.69 (n)
Str.993 30
zebrafish
(Danio rerio)
Actinopterygii MEX3C 31
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11360 31
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mex-3 31
  • 37 (a)
OneToMany
Species where no ortholog for MEX3C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MEX3C Gene

ENSEMBL:
Gene Tree for MEX3C (if available)
TreeFam:
Gene Tree for MEX3C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEX3C: view image

Paralogs for MEX3C Gene

Paralogs for MEX3C Gene

(4) SIMAP similar genes for MEX3C Gene using alignment to 2 proteins:

  • MEX3C_HUMAN
  • K7ER23_HUMAN
genes like me logo Genes that share paralogs with MEX3C: view

Variants for MEX3C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEX3C Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
736133 Likely Benign: not provided 51,176,819(-) T/C SYNONYMOUS_VARIANT
769443 Benign: not provided 51,196,775(-) CGCCGCCGCG/C INFRAME_DELETION
rs12970605 - p.Thr412Pro

Additional dbSNP identifiers (rs#s) for MEX3C Gene

Structural Variations from Database of Genomic Variants (DGV) for MEX3C Gene

Variant ID Type Subtype PubMed ID
nsv1055468 CNV gain 25217958
nsv1121951 CNV deletion 24896259
nsv1123178 CNV deletion 24896259
nsv833652 CNV loss 17160897
nsv953543 CNV duplication 24416366

Variation tolerance for MEX3C Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEX3C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEX3C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEX3C Gene

Disorders for MEX3C Gene

MalaCards: The human disease database

(2) MalaCards diseases for MEX3C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smallpox
  • ordinary smallpox
protoplasmic astrocytoma
  • protoplasmic astrocytic tumor
- elite association - COSMIC cancer census association via MalaCards
Search MEX3C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEX3C_HUMAN
  • Note=Genetic variations in MEX3C may be associated with susceptibility to essential hypertension. {ECO:0000269 PubMed:17015768}.

Additional Disease Information for MEX3C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MEX3C: view

No data available for Genatlas for MEX3C Gene

Publications for MEX3C Gene

  1. Identification and characterization of human Mex-3 proteins, a novel family of evolutionarily conserved RNA-binding proteins differentially localized to processing bodies. (PMID: 17267406) Buchet-Poyau K … Billaud M (Nucleic acids research 2007) 2 3 4 54
  2. The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation. (PMID: 22863774) Cano F … Lehner PJ (The EMBO journal 2012) 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene. (PMID: 17015768) Guzmán B … Poch E (Hypertension (Dallas, Tex. : 1979) 2006) 3 4 54
  5. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 3 4 54

Products for MEX3C Gene

Sources for MEX3C Gene