Aliases for R3HDM2 Gene

Aliases for R3HDM2 Gene

  • R3H Domain Containing 2 2 3 5
  • R3H Domain-Containing Protein 2 3 4
  • KIAA1002 2 4
  • PR01365 3
  • R3HDM2 5
  • 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. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is R3HDM1.

Additional gene information for R3HDM2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for R3HDM2 Gene

Genomics for R3HDM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for R3HDM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057429 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606 +0.2 195 3.5 CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 TFE3 ZNF512 IKZF1 NFKBIZ R3HDM2 ENSG00000258001 lnc-ARHGAP9-2 BAZ2A NEMP1 MBD6 RN7SL809P RNU6-343P CDK4 EEF1AKMT3
GH12J057279 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.1 +150.6 150642 3.6 SP1 CREB1 GATAD2A ZNF629 TFE3 LEF1 ZHX2 JUND MTA2 ZNF143 piR-61945-104 R3HDM2 EEF1AKMT3 NEMP1 PAN2 CDK4 ENSG00000224713 TSPAN31 CTDSP2 LOC283387
GH12J057434 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.4 -6.6 -6558 7.2 GATAD2A REST SP1 CEBPA ZBTB44 ZBTB20 RUNX3 ZBTB26 YY1 ZBTB33 INHBC R3HDM2 ATP23 ARHGAP9 ENSG00000224713 ENSG00000258001 RF00017-1165 INHBE
GH12J057312 Promoter 0.6 EPDnew 600.1 +118.8 118760 0.1 BHLHE40 ZEB2 ARID1B SMARCA4 R3HDM2 INHBE GLI1 RF00994-243 ENSG00000258830 lnc-R3HDM2-1 lnc-ARHGAP9-2
GH12J057255 Promoter 0.4 EPDnew 600.1 +176.5 176523 0.1 REST R3HDM2 SHMT2 NXPH4 GLI1 INHBE STAC3 piR-50852-038 lnc-R3HDM2-1 ENSG00000258830
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around R3HDM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for R3HDM2

Top Transcription factor binding sites by QIAGEN in the R3HDM2 gene promoter:
  • aMEF-2
  • ATF
  • FOXC1
  • FOXL1
  • GATA-1
  • HSF2
  • MEF-2
  • MEF-2A
  • p53
  • Roaz

Genomic Locations for R3HDM2 Gene

Genomic Locations for R3HDM2 Gene
chr12:57,253,762-57,431,043
(GRCh38/hg38)
Size:
177,282 bases
Orientation:
Minus strand
chr12:57,643,392-57,824,788
(GRCh37/hg19)
Size:
181,397 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; 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

Gene Families for R3HDM2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for R3HDM2 Gene

InterPro:
Blocks:
  • Single-stranded nucleic acid binding R3H
ProtoNet:

Suggested Antigen Peptide Sequences for R3HDM2 Gene

GenScript: Design optimal peptide antigens:
  • R3H domain-containing protein 2 (R3HD2_HUMAN)
genes like me logo Genes that share domains with R3HDM2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for R3HDM2 Gene

Function for R3HDM2 Gene

Phenotypes From GWAS Catalog for R3HDM2 Gene

Gene Ontology (GO) - Molecular Function for R3HDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for R3HDM2

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 4
cytosol 3
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

PathCards logo

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

mRNA/cDNA for R3HDM2 Gene

18 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for R3HDM2

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

Expression for R3HDM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for R3HDM2 Gene



Protein tissue co-expression partners for R3HDM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Stomach(2)
genes like me logo Genes that share expression patterns with R3HDM2: view

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 30
  • 95.96 (n)
Cow
(Bos Taurus)
Mammalia R3HDM2 30 31
  • 94.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia R3HDM2 30 31
  • 94.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia R3hdm2 30 17 31
  • 91.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia R3hdm2 30
  • 91.58 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 81 (a)
OneToMany
Chicken
(Gallus gallus)
Aves R3HDM2 30
  • 75.81 (n)
-- 31
  • 70 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 78 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia r3hdm2 30
  • 69.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii r3hdm2 30
  • 68.57 (n)
arpp21 31
  • 32 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta enc 31
  • 10 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ZK121.2 31
  • 23 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RBS1 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
Species where no ortholog for R3HDM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for R3HDM2: view image

Paralogs for R3HDM2 Gene

Paralogs for R3HDM2 Gene

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

  • R3HD2_HUMAN
  • B5MCG9_HUMAN
  • B5MCU0_HUMAN
  • B7ZL65_HUMAN
  • C9J7N6_HUMAN
  • F8WA40_HUMAN
  • H0YIF2_HUMAN
  • H0YIX9_HUMAN
  • H7C0E9_HUMAN

Pseudogenes.org Pseudogenes for R3HDM2 Gene

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

Variants for R3HDM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for R3HDM2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
781083 Benign: not provided 57,266,789(-) G/A SYNONYMOUS_VARIANT
rs11832661 - p.Thr35Ala

Additional dbSNP identifiers (rs#s) for R3HDM2 Gene

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)

Additional Variant Information 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

Additional Disease Information for R3HDM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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 TM … Kathiresan S (Nature 2010) 3 41
  2. Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. (PMID: 20884846) Yang Q … Coresh J (Circulation. Cardiovascular genetics 2010) 3 41
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3

Products for R3HDM2 Gene

Sources for R3HDM2 Gene