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Aliases for RC3H2 Gene

Aliases for RC3H2 Gene

  • Ring Finger And CCCH-Type Domains 2 2 3 5
  • Membrane-Associated Nucleic Acid-Binding Protein 3 4
  • Ring Finger And CCCH-Type Zinc Finger Domains 2 2 3
  • RING-Type E3 Ubiquitin Transferase Roquin-2 3 4
  • Membrane Associated DNA Binding Protein 2 3
  • RING Finger Protein 164 3 4
  • RNF164 3 4
  • MNAB 3 4
  • Ring Finger And CCCH-Type Zinc Finger Domain-Containing Protein 2 3
  • RING Finger And CCCH-Type Zinc Finger Domain-Containing Protein 2 4
  • EC 2.3.2.27 4
  • Roquin-2 3

External Ids for RC3H2 Gene

Previous HGNC Symbols for RC3H2 Gene

  • MNAB

Previous GeneCards Identifiers for RC3H2 Gene

  • GC09M124647
  • GC09M125606
  • GC09M095226

Summaries for RC3H2 Gene

GeneCards Summary for RC3H2 Gene

RC3H2 (Ring Finger And CCCH-Type Domains 2) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding and mRNA binding. An important paralog of this gene is RC3H1.

UniProtKB/Swiss-Prot for RC3H2 Gene

  • Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). May act as a ubiquitin E3 ligase. Involved in the ubiquitination of MAP3K5 (PubMed:24448648).

Additional gene information for RC3H2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RC3H2 Gene

Genomics for RC3H2 Gene

Regulatory Elements for RC3H2 Gene

Enhancers for RC3H2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H123775 1.9 VISTA 10.2 -871.2 -871204 2 PKNOX1 TRIM22 BMI1 DPF2 OSR2 POLR2A IKZF1 TARDBP ZNF350 ZNF24 ZBTB26 RC3H2 ENSG00000261094 DENND1A ENSG00000229115 PIGFP2
GH09H123326 1.5 Ensembl ENCODE dbSUPER 12.3 -422.0 -422030 2 PKNOX1 ATF1 SIN3A YBX1 ZNF766 ZNF207 ATF7 NCOA1 REST ZNF592 ZBTB26 RC3H2 ZBTB6 STRBP LOC105376265 CRB2
GH09H123304 1.5 Ensembl ENCODE dbSUPER 11.9 -399.6 -399567 1 PKNOX1 ATF1 ARNT TCF12 ZNF766 GLIS2 GATA2 ELK1 KLF7 ATF7 ZBTB26 RC3H2 STRBP MIR600HG MIR600 GC09M123300 LOC105376265
GH09H122374 1.5 FANTOM5 Ensembl ENCODE 10.4 +528.7 528735 4 HDGF PKNOX1 ATF1 ARNT ZFP64 TCF12 ZNF766 GATA2 ELK1 ATF7 ZBTB26 RC3H2 OR1K1 PTGS1 DAB2IP OR1L3 ENSG00000269970 ENSG00000233616
GH09H123267 1 ENCODE 13.8 -363.2 -363187 1 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 GLIS2 ELK1 ZNF143 ZBTB26 RC3H2 ENSG00000261094 ZBTB6 STRBP GC09M123176 PIR44660
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RC3H2 on UCSC Golden Path with GeneCards custom track

Promoters for RC3H2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241081 741 2801 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207

Genomic Location for RC3H2 Gene

Chromosome:
9
Start:
122,844,556 bp from pter
End:
122,905,341 bp from pter
Size:
60,786 bases
Orientation:
Minus strand

Genomic View for RC3H2 Gene

Genes around RC3H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RC3H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RC3H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RC3H2 Gene

Proteins for RC3H2 Gene

  • Protein details for RC3H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBD1-RC3H2_HUMAN
    Recommended name:
    Roquin-2
    Protein Accession:
    Q9HBD1
    Secondary Accessions:
    • Q4VXB1
    • Q5JPD7
    • Q86ST6
    • Q8N3D6
    • Q96F27
    • Q9H5J2
    • Q9HBD2
    • Q9NWN9
    • Q9NXE1

    Protein attributes for RC3H2 Gene

    Size:
    1191 amino acids
    Molecular mass:
    131669 Da
    Quaternary structure:
    • Interacts with EDC4. Interacts with CCR4-NOT deadenylase complex (By similarity). Interacts with MAP3K5; the interaction is probably stimulus-dependent (PubMed:24448648).
    SequenceCaution:
    • Sequence=BAA91340.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15634.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RC3H2 Gene

    Alternative splice isoforms for RC3H2 Gene

neXtProt entry for RC3H2 Gene

Post-translational modifications for RC3H2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RC3H2 Gene

Domains & Families for RC3H2 Gene

Gene Families for RC3H2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

Q9HBD1

UniProtKB/Swiss-Prot:

RC3H2_HUMAN :
  • The RING-type zinc finger is required for proper localization to stress granules, but not to P-bodies.
Domain:
  • The RING-type zinc finger is required for proper localization to stress granules, but not to P-bodies.
  • The ROQ region is required for CDE RNA-binding. It may also be involved in localization to stress granules.
genes like me logo Genes that share domains with RC3H2: view

Function for RC3H2 Gene

Molecular function for RC3H2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). May act as a ubiquitin E3 ligase. Involved in the ubiquitination of MAP3K5 (PubMed:24448648).

Enzyme Numbers (IUBMB) for RC3H2 Gene

Gene Ontology (GO) - Molecular Function for RC3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 10938276
GO:0003723 RNA binding IEA,IDA 22658674
GO:0003729 mRNA binding IEA --
GO:0004842 ubiquitin-protein transferase activity IDA 24448648
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with RC3H2: view
genes like me logo Genes that share phenotypes with RC3H2: view

Animal Models for RC3H2 Gene

MGI Knock Outs for RC3H2:

Animal Model Products

CRISPR Products

miRNA for RC3H2 Gene

miRTarBase miRNAs that target RC3H2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RC3H2
  • Applied Biological Materials Clones for RC3H2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RC3H2 Gene

Localization for RC3H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RC3H2 Gene

Cytoplasm, P-body. Note=During stress, such as that induced by arsenite, localizes to cytosolic stress granules. Localization to stress granules, but not to P-bodies, depends upon the RING-type zinc finger. {ECO:0000269 PubMed:20412057}.

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 RC3H2 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RC3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA --
GO:0005737 cytoplasm IEA --
GO:0009986 cell surface IDA 10938276
GO:0016020 membrane IDA 10938276
genes like me logo Genes that share ontologies with RC3H2: view

Pathways & Interactions for RC3H2 Gene

SuperPathways for RC3H2 Gene

No Data Available

UniProtKB/Swiss-Prot Q9HBD1-RC3H2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RC3H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 24448648
GO:0001782 B cell homeostasis IEA --
GO:0009791 post-embryonic development IEA --
GO:0010468 regulation of gene expression IEA --
GO:0010608 posttranscriptional regulation of gene expression IEA --
genes like me logo Genes that share ontologies with RC3H2: view

No data available for Pathways by source and SIGNOR curated interactions for RC3H2 Gene

Drugs & Compounds for RC3H2 Gene

No Compound Related Data Available

Transcripts for RC3H2 Gene

Unigene Clusters for RC3H2 Gene

Ring finger and CCCH-type domains 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RC3H2
  • Applied Biological Materials Clones for RC3H2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RC3H2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1: -
SP2:
SP3: - -
SP4:
SP5: -

ExUns: 21b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for RC3H2 Gene

GeneLoc Exon Structure for
RC3H2
ECgene alternative splicing isoforms for
RC3H2

Expression for RC3H2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RC3H2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RC3H2 Gene

This gene is overexpressed in Tlymphocyte (57.2) and Heart (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RC3H2 Gene



Protein tissue co-expression partners for RC3H2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RC3H2 Gene:

RC3H2

SOURCE GeneReport for Unigene cluster for RC3H2 Gene:

Hs.533499

mRNA Expression by UniProt/SwissProt for RC3H2 Gene:

Q9HBD1-RC3H2_HUMAN
Tissue specificity: Expressed in spleen, testis, ovary and small intestine.

Evidence on tissue expression from TISSUES for RC3H2 Gene

  • Nervous system(4.3)
  • Blood(4.2)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with RC3H2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RC3H2 Gene

Orthologs for RC3H2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RC3H2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 34
  • 100 (a)
OneToMany
RC3H2 33
  • 95.38 (n)
-- 34
  • 95 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia RC3H2 33 34
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia RC3H2 33 34
  • 94.96 (n)
mouse
(Mus musculus)
Mammalia Rc3h2 33 16 34
  • 93.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RC3H2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rc3h2 33
  • 92.98 (n)
oppossum
(Monodelphis domestica)
Mammalia RC3H2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RC3H2 33 34
  • 84.44 (n)
lizard
(Anolis carolinensis)
Reptilia RC3H2 34
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rc3h2 33 34
  • 63.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta roq 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rle-1 34
  • 28 (a)
OneToMany
Species where no ortholog for RC3H2 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RC3H2 Gene

ENSEMBL:
Gene Tree for RC3H2 (if available)
TreeFam:
Gene Tree for RC3H2 (if available)

Paralogs for RC3H2 Gene

Paralogs for RC3H2 Gene

(1) SIMAP similar genes for RC3H2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RC3H2: view

Variants for RC3H2 Gene

Sequence variations from dbSNP and Humsavar for RC3H2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000001891 -- 122,866,810(+) GCAGC(C/T)TATGC intron-variant
rs1000060992 -- 122,860,606(+) ACGGG(A/G)TCTAG intron-variant
rs1000076948 -- 122,865,888(+) CAAGC(C/T)GAGTT intron-variant
rs1000097789 -- 122,882,231(+) GAGGT(G/T)GTGTG intron-variant, upstream-variant-2KB
rs1000111555 -- 122,886,286(+) ACATT(C/T)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RC3H2 Gene

Variant ID Type Subtype PubMed ID
esv1374808 CNV deletion 17803354
nsv615270 CNV gain 21841781
nsv950940 CNV deletion 24416366

Variation tolerance for RC3H2 Gene

Residual Variation Intolerance Score: 3.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RC3H2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RC3H2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RC3H2 Gene

Disorders for RC3H2 Gene

Relevant External Links for RC3H2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RC3H2

No disorders were found for RC3H2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RC3H2 Gene

Publications for RC3H2 Gene

  1. A human gene coding for a membrane-associated nucleic acid-binding protein. (PMID: 10938276) Siess DC … Hefeneider SH (The Journal of biological chemistry 2000) 2 3 4 22 60
  2. Roquin-2 promotes ubiquitin-mediated degradation of ASK1 to regulate stress responses. (PMID: 24448648) Maruyama T … Ichijo H (Science signaling 2014) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for RC3H2 Gene

  • Addgene plasmids for RC3H2

Sources for RC3H2 Gene

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