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Aliases for R3HDM2 Gene

Aliases for R3HDM2 Gene

  • R3H Domain Containing 2 2 3 5
  • R3H Domain-Containing Protein 2 3
  • KIAA1002 4
  • PR01365 3
  • CAG6 3

External Ids for R3HDM2 Gene

Previous GeneCards Identifiers for R3HDM2 Gene

  • GC12M055934
  • GC12M057647
  • GC12M054686

Summaries for R3HDM2 Gene

GeneCards Summary for R3HDM2 Gene

R3HDM2 (R3H Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and poly(A) RNA binding. An important paralog of this gene is R3HDM1.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for R3HDM2 Gene

Genomics for R3HDM2 Gene

Regulatory Elements for R3HDM2 Gene

Enhancers for R3HDM2 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
GH12G057085 1.7 Ensembl ENCODE dbSUPER 6.7 +338.9 338938 14.1 MLX CREB3L1 AGO1 YBX1 DMAP1 FEZF1 YY1 ZNF143 ZNF416 ZNF263 NEMP1 BAZ2A RN7SL809P NAB2 ANKRD52 ENSG00000258317 ZC3H10 CTDSP2 STAT2 AGAP2-AS1
GH12G057118 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.5 +311.9 311864 1.4 CTCF PKNOX1 BACH1 ZNF316 ZFHX2 POLR2A EED SCRT2 PRDM10 NFE2 NAB2 MYO1A LRP1 R3HDM2 GC12P057095 GC12P057094
GH12G057339 1.3 Ensembl ENCODE 5.4 +89.8 89756 3.7 ATF1 CREB3L1 ARID4B GLI4 ZNF2 GLIS2 KLF7 SP3 TSHZ1 REST INHBE RNU6-879P GLI1 LRP1 TSFM ARHGAP9 ENSG00000224713 R3HDM2 DCTN2 PTGES3
GH12G057429 1.1 ENCODE 6.1 +0.2 157 3.5 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 BAZ2A NEMP1 RN7SL809P RNU6-343P CTDSP2 RBMS2 ARHGAP9 R3HDM2 TSFM ATP23
GH12G057357 1.1 FANTOM5 5.8 +73.0 73043 0.3 ARNT SIN3A ZNF2 TCF12 FOS JUNB ZNF592 ATF4 SMARCA4 NBN ENSG00000224713 ARHGEF25 R3HDM2 DCTN2 GC12P057416 ENSG00000258830
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around R3HDM2 on UCSC Golden Path with GeneCards custom track

Promoters for R3HDM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052659 305 1801 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for R3HDM2 Gene

Chromosome:
12
Start:
57,253,762 bp from pter
End:
57,431,005 bp from pter
Size:
177,244 bases
Orientation:
Minus strand

Genomic View for R3HDM2 Gene

Genes around R3HDM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
R3HDM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for R3HDM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for R3HDM2 Gene

Proteins for R3HDM2 Gene

  • Protein details for R3HDM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2K5-R3HD2_HUMAN
    Recommended name:
    R3H domain-containing protein 2
    Protein Accession:
    Q9Y2K5
    Secondary Accessions:
    • B7ZL65
    • Q2M1T9
    • Q3ZCT5

    Protein attributes for R3HDM2 Gene

    Size:
    976 amino acids
    Molecular mass:
    106999 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI04996.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI12227.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA76846.2; Type=Frameshift; Positions=4; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for R3HDM2 Gene

    Alternative splice isoforms for R3HDM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for R3HDM2 Gene

Post-translational modifications for R3HDM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for R3HDM2 Gene

Domains & Families for R3HDM2 Gene

Protein Domains for R3HDM2 Gene

Suggested Antigen Peptide Sequences for R3HDM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with R3HDM2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for R3HDM2 Gene

Function for R3HDM2 Gene

Gene Ontology (GO) - Molecular Function for R3HDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with R3HDM2: view
genes like me logo Genes that share phenotypes with R3HDM2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for R3HDM2 Gene

Localization for R3HDM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for R3HDM2 Gene

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 R3HDM2 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for R3HDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with R3HDM2: view

Pathways & Interactions for R3HDM2 Gene

SuperPathways for R3HDM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for R3HDM2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for R3HDM2 Gene

Drugs & Compounds for R3HDM2 Gene

No Compound Related Data Available

Transcripts for R3HDM2 Gene

Unigene Clusters for R3HDM2 Gene

R3H domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for R3HDM2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^
SP1: -
SP2: - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7:
SP8:

ExUns: 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for R3HDM2 Gene

GeneLoc Exon Structure for
R3HDM2
ECgene alternative splicing isoforms for
R3HDM2

Expression for R3HDM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for R3HDM2 Gene

Protein differential expression in normal tissues from HIPED for R3HDM2 Gene

This gene is overexpressed in Plasma (40.9), Frontal cortex (14.8), and Fetal Brain (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for R3HDM2 Gene



Protein tissue co-expression partners for R3HDM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of R3HDM2 Gene:

R3HDM2

SOURCE GeneReport for Unigene cluster for R3HDM2 Gene:

Hs.443673

Evidence on tissue expression from TISSUES for R3HDM2 Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with R3HDM2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for R3HDM2 Gene

Orthologs for R3HDM2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for R3HDM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia R3HDM2 34
  • 95.96 (n)
cow
(Bos Taurus)
Mammalia R3HDM2 34 35
  • 94.67 (n)
dog
(Canis familiaris)
Mammalia R3HDM2 34 35
  • 94.5 (n)
mouse
(Mus musculus)
Mammalia R3hdm2 34 16 35
  • 91.8 (n)
rat
(Rattus norvegicus)
Mammalia R3hdm2 34
  • 91.58 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves R3HDM2 34
  • 75.81 (n)
-- 35
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 78 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia r3hdm2 34
  • 69.97 (n)
zebrafish
(Danio rerio)
Actinopterygii r3hdm2 34
  • 68.57 (n)
arpp21 35
  • 32 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta enc 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK121.2 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RBS1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for R3HDM2 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for R3HDM2 Gene

ENSEMBL:
Gene Tree for R3HDM2 (if available)
TreeFam:
Gene Tree for R3HDM2 (if available)

Paralogs for R3HDM2 Gene

Paralogs for R3HDM2 Gene

(3) SIMAP similar genes for R3HDM2 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for R3HDM2 Gene

genes like me logo Genes that share paralogs with R3HDM2: view

Variants for R3HDM2 Gene

Sequence variations from dbSNP and Humsavar for R3HDM2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000024056 -- 57,342,460(+) CTGGC(A/T)CATAC intron-variant, upstream-variant-2KB
rs1000026389 -- 57,309,302(+) GCATG(A/C)AGGAA intron-variant
rs1000080453 -- 57,302,125(+) AAAAC(A/C)CAAAA intron-variant
rs1000084620 -- 57,419,230(+) CCTCC(A/G)CCTCC intron-variant
rs1000086461 -- 57,306,761(+) TGTAA(A/T)CCCAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for R3HDM2 Gene

Variant ID Type Subtype PubMed ID
esv1358710 CNV deletion 17803354
nsv1134233 CNV deletion 24896259
nsv1138139 CNV deletion 24896259
nsv482992 CNV gain+loss 15286789

Variation tolerance for R3HDM2 Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for R3HDM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
R3HDM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for R3HDM2 Gene

Disorders for R3HDM2 Gene

Relevant External Links for R3HDM2

Genetic Association Database (GAD)
R3HDM2
Human Genome Epidemiology (HuGE) Navigator
R3HDM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
R3HDM2

No disorders were found for R3HDM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for R3HDM2 Gene

Publications for R3HDM2 Gene

  1. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 46 64
  2. Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. (PMID: 20884846) Yang Q. … Coresh J. (Circ Cardiovasc Genet 2010) 3 46 64
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3 64

Products for R3HDM2 Gene

Sources for R3HDM2 Gene

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