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

Summary

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, Dec 2024]
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

Location:: 9q33.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (122844556..122905359, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (135041909..135102585, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (125606835..125667638, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	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

EC 2.3.2.27

NP_001341407.1

EC 2.3.2.27

NP_001341408.1

EC 2.3.2.27

NP_001341411.1

EC 2.3.2.27

NP_001341415.1

EC 2.3.2.27

NP_061323.2

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_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
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)
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]
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)
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
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