Rc3h2 ring finger and CCCH-type zinc finger domains 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rc3h2provided by MGI
Official Full Name: ring finger and CCCH-type zinc finger domains 2provided by MGI
Primary source: MGI:MGI:2442789
See related: Ensembl:ENSMUSG00000075376 AllianceGenome:MGI:2442789
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mnab; Rnf164; 2900024N03Rik; 9430019J22Rik; D930043C02Rik
Summary: Enables mRNA binding activity. Involved in T cell receptor signaling pathway; negative regulation of T-helper 17 cell differentiation; and regulation of miRNA metabolic process. Acts upstream of or within several processes, including hematopoietic or lymphoid organ development; lymphocyte homeostasis; and positive regulation of NIK/NF-kappaB signaling. Predicted to be located in cell surface; intracellular membrane-bounded organelle; and membrane. Predicted to be active in cytoplasmic stress granule. Orthologous to human RC3H2 (ring finger and CCCH-type domains 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 8.3), CNS E18 (RPKM 7.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 24.19 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (37260078..37313007, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (37368861..37424370, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Roquin-mediated control of PI3K-mTOR signaling prevents autoimmunity by restraining activation and differentiation of conventional T cells and specialization of Treg cells.
Title: Roquin Suppresses the PI3K-mTOR Signaling Pathway to Inhibit T Helper Cell Differentiation and Conversion of Treg to Tfr Cells.
Study demonstrates that the constitutive decay element folds into an RNA stem-loop motif that is specifically recognized by Roquin and Roquin2. Binding of Roquin initiates degradation of TNF-alpha mRNA and limits TNF-alpha production in macrophages.
Title: Roquin promotes constitutive mRNA decay via a conserved class of stem-loop recognition motifs.
Roquin-1 and Roquin-2 proteins redundantly repressed the mRNA of inducible costimulator (Icos) and identified the Ox40 costimulatory receptor as another shared mRNA target.
Title: Roquin paralogs 1 and 2 redundantly repress the Icos and Ox40 costimulator mRNAs and control follicular helper T cell differentiation.
RING-deficient Roquin-1 failed to localize to stress granules and allowed Roquin-2 to compensate in the repression of ICOS and Tfh cells.
Title: Roquin-2 shares functions with its paralog Roquin-1 in the repression of mRNAs controlling T follicular helper cells and systemic inflammation.
Characterization of the human RC3H2 ortholog and observation of conserved sequences in mouse.
Title: A human gene coding for a membrane-associated nucleic acid-binding protein.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA stem-loop binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA stem-loop binding	ISO Inferred from Sequence Orthology more info
enables double-stranded RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA 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 transferase activity	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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within T cell homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within T cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in T cell receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T follicular helper cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph node development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T-helper 17 cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-transcriptional regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of miRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spleen development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: roquin-2

Names: 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

NP_001094061.1

EC 2.3.2.27

NP_001277571.1

EC 2.3.2.27

XP_006498187.1

EC 2.3.2.27

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)

NM_001100591.1 → NP_001094061.1 roquin-2 isoform a

See identical proteins and their annotated locations for NP_001094061.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK053071, AL929572, BC117951, BC117952, BM898966

Consensus CDS

CCDS38116.1

UniProtKB/Swiss-Prot

A2AVP5, P0C090

UniProtKB/TrEMBL

Q148V4, Q148V5

Conserved Domains (5) summary

PTZ00449
Location:535 → 796

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

COG5063
Location:393 → 500

CTH1; CCCH-type Zn-finger protein [General function prediction only]

cd16638
Location:11 → 54

mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins

pfam00642
Location:411 → 436

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam18386
Location:268 → 323

ROQ_II; Roquin II domain
NM_001290642.1 → NP_001277571.1 roquin-2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK053071, AL929572, BM898966

Consensus CDS

CCDS71046.1

UniProtKB/TrEMBL

A2AVP4, Q148V4, Q148V5

Related

ENSMUSP00000108556.2, ENSMUST00000112934.8

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

37260078..37313007 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498124.5 → XP_006498187.1 roquin-2 isoform X1

See identical proteins and their annotated locations for XP_006498187.1

UniProtKB/Swiss-Prot

A2AVP5, P0C090

UniProtKB/TrEMBL

Q148V4, Q148V5

Related

ENSMUSP00000108558.2, ENSMUST00000112936.4

Conserved Domains (5) summary

PTZ00449
Location:535 → 796

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

COG5063
Location:393 → 500

CTH1; CCCH-type Zn-finger protein [General function prediction only]

cd16638
Location:11 → 54

mRING-HC-C3HC3D_Roquin; Modified RING finger, HC subclass (C3HC3D-type), found in Roquin-1, Roquin-2, and similar proteins

pfam00642
Location:411 → 436

zf-CCCH; Zinc finger C-x8-C-x5-C-x3-H type (and similar)

pfam18386
Location:268 → 323

ROQ_II; Roquin II domain