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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
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Genomic context

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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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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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