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    RC3H2 ring finger and CCCH-type domains 2 [ Homo sapiens (human) ]

    Gene ID: 54542, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RC3H2provided by HGNC
    Official Full Name
    ring finger and CCCH-type domains 2provided by HGNC
    Primary source
    HGNC:HGNC:21461
    See related
    Ensembl:ENSG00000056586 MIM:615231; AllianceGenome:HGNC:21461
    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
    MNAB; RNF164
    Summary
    Enables nucleic acid binding activity and ubiquitin protein ligase activity. Involved in protein polyubiquitination. Located in cell surface; intracellular membrane-bounded organelle; and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.8), testis (RPKM 7.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RC3H2 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122844556..122905359, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (135041909..135102585, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (125606835..125667638, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 52 Neighboring gene phosducin like Neighboring gene keratin 18 pseudogene 67 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125613641-125614416 Neighboring gene small nucleolar RNA, C/D box 90 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:125677135-125677892 Neighboring gene zinc finger and BTB domain containing 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125683768-125684268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:125684269-125684769 Neighboring gene zinc finger and BTB domain containing 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20244

    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
    • 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. Roquin2 suppresses breast cancer progression by inhibiting tumor angiogenesis via selectively destabilizing proangiogenic factors mRNA. Zhou M, et al. Int J Biol Sci, 2021. PMID 34345214, Free PMC Article
    2. Structure of human Roquin-2 and its complex with constitutive-decay element RNA. Sakurai S, et al. Acta Crystallogr F Struct Biol Commun, 2015 Aug. PMID 26249698, Free PMC Article
    3. A human gene coding for a membrane-associated nucleic acid-binding protein. Siess DC, et al. J Biol Chem, 2000 Oct 27. PMID 10938276
    4. Roquin-2 promotes ubiquitin-mediated degradation of ASK1 to regulate stress responses. Maruyama T, et al. Sci Signal, 2014 Jan 21. PMID 24448648
    5. Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2. Choi J, et al. Nat Cell Biol, 2018 May. PMID 29695787, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Roquin2 suppresses breast cancer progression by inhibiting tumor angiogenesis via selectively destabilizing proangiogenic factors mRNA.
      Title: Roquin2 suppresses breast cancer progression by inhibiting tumor angiogenesis via selectively destabilizing proangiogenic factors mRNA.
    2. Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.
      Title: Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.
    3. Crystal structures, small-angle X-ray scattering, and E2 profiling revealed that while the two paralogs are highly homologous, RC3H2 and RC3H1 are different in their structures and functions.
      Title: New Insights into the RNA-Binding and E3 Ubiquitin Ligase Activities of Roquins.
    4. Roquin-1 and roquin-2 proteins function redundantly in mRNA degradation.
      Title: Structure of human Roquin-2 and its complex with constitutive-decay element RNA.
    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

    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

    • FLJ20301, FLJ20713, MGC52176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables RNA stem-loop binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA stem-loop binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in T follicular helper cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymph node development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of T-helper 17 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of miRNA metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in P-body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    roquin-2
    Names
    RING finger protein 164
    RING-type E3 ubiquitin transferase Roquin-2
    membrane associated DNA binding protein
    membrane-associated nucleic acid-binding protein
    ring finger and CCCH-type zinc finger domain-containing protein 2
    ring finger and CCCH-type zinc finger domains 2
    NP_001094058.1
    NP_001341407.1
    NP_001341408.1
    NP_001341411.1
    NP_001341415.1
    NP_061323.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001100588.3 → NP_001094058.1  roquin-2 isoform 1

      See identical proteins and their annotated locations for NP_001094058.1

      Status: VALIDATED

      Source sequence(s)
      AC007066, AL359512
      Consensus CDS
      CCDS43874.1
      UniProtKB/Swiss-Prot
      Q4VXB1, Q5JPD7, Q86ST6, Q8N3D6, Q96F27, Q9H5J2, Q9HBD1, Q9HBD2, Q9NWN9, Q9NXE1
      Related
      ENSP00000349783.2, ENST00000357244.7
      Conserved Domains (2) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam14634
      Location:14 → 55
      zf-RING_5; zinc-RING finger domain

    2. NM_001354478.2 → NP_001341407.1  roquin-2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007066, AL359512
      Conserved Domains (3) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd16638
      Location:11 → 54
      mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins
      cl25751
      Location:536 → 798
      DUF4045; Domain of unknown function (DUF4045)

    3. NM_001354479.2 → NP_001341408.1  roquin-2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007066, AL359512
      Conserved Domains (3) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd16638
      Location:11 → 54
      mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins
      cl28087
      Location:530 → 766
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    4. NM_001354482.2 → NP_001341411.1  roquin-2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC007066, AL359512
      Conserved Domains (3) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd16638
      Location:11 → 54
      mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins
      cl25751
      Location:536 → 798
      DUF4045; Domain of unknown function (DUF4045)

    5. NM_001354486.2 → NP_001341415.1  roquin-2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC007066, BC044642
      Consensus CDS
      CCDS87685.1
      UniProtKB/TrEMBL
      A6NHN2
      Related
      ENSP00000335150.5, ENST00000335387.9
      Conserved Domains (2) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      cd16638
      Location:11 → 54
      mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins

    6. NM_018835.5 → NP_061323.2  roquin-2 isoform 2

      See identical proteins and their annotated locations for NP_061323.2

      Status: VALIDATED

      Source sequence(s)
      AC007066, AL359512, AW291376
      Consensus CDS
      CCDS48014.1
      UniProtKB/Swiss-Prot
      Q9HBD1
      Related
      ENSP00000411767.1, ENST00000423239.6
      Conserved Domains (2) summary
      pfam00642
      Location:411 → 437
      zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)
      pfam14634
      Location:14 → 55
      zf-RING_5; zinc-RING finger domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122844556..122905359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      135041909..135102585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBD1.2 GenPept UniProtKB/Swiss-Prot:Q9HBD1

    Gene LinkOut

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

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