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Aliases for RWDD2B Gene

Aliases for RWDD2B Gene

  • RWD Domain Containing 2B 2 3 5
  • C21orf6 3 4
  • Chromosome 21 Open Reading Frame 6 2
  • RWD Domain-Containing Protein 2B 3
  • GL011 3

External Ids for RWDD2B Gene

Previous HGNC Symbols for RWDD2B Gene

  • C21orf6

Previous GeneCards Identifiers for RWDD2B Gene

  • GC21M029300
  • GC21M030376
  • GC21M015782

Summaries for RWDD2B Gene

GeneCards Summary for RWDD2B Gene

RWDD2B (RWD Domain Containing 2B) is a Protein Coding gene. Diseases associated with RWDD2B include Monosomy 21. An important paralog of this gene is RWDD2A.

Gene Wiki entry for RWDD2B Gene

Additional gene information for RWDD2B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RWDD2B Gene

Genomics for RWDD2B Gene

Regulatory Elements for RWDD2B Gene

Enhancers for RWDD2B 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
GH21H029002 1.9 FANTOM5 Ensembl ENCODE 22.7 +16.3 16321 1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CCT8 RWDD2B RPL12P9 LTN1 USP16 N6AMT1 GC21P029003 RPL23P2
GH21H028991 1.2 ENCODE 24.8 +26.6 26561 2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 USP16 CCT8 LTN1 RWDD2B RPL23P2 N6AMT1 RPL12P9 ENSG00000231125 ENSG00000273254 MAP3K7CL
GH21H029075 1.3 FANTOM5 ENCODE 20.4 -59.2 -59205 6 PKNOX1 ZNF133 SIN3A YY1 ZNF207 ZNF548 SP3 NFYC TSHZ1 REST ENSG00000231125 LTN1 CCT8 RWDD2B RPL12P9 USP16 RPL23P2 GRIK1-AS1 BACH1 GC21P029079
GH21H029017 1.1 ENCODE 21.7 +0.5 456 2 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 RWDD2B LTN1 RPL12P9 ENSG00000231125 CCT8 MAP3K7CL GC21P029012
GH21H029071 1.1 ENCODE 17.2 -53.4 -53415 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B CCT8 RWDD2B RPL12P9 LTN1 ENSG00000231125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RWDD2B on UCSC Golden Path with GeneCards custom track

Promoters for RWDD2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141142 278 1801 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for RWDD2B Gene

Chromosome:
21
Start:
29,004,384 bp from pter
End:
29,019,378 bp from pter
Size:
14,995 bases
Orientation:
Minus strand

Genomic View for RWDD2B Gene

Genes around RWDD2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RWDD2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RWDD2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RWDD2B Gene

Proteins for RWDD2B Gene

  • Protein details for RWDD2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57060-RWD2B_HUMAN
    Recommended name:
    RWD domain-containing protein 2B
    Protein Accession:
    P57060

    Protein attributes for RWDD2B Gene

    Size:
    319 amino acids
    Molecular mass:
    36332 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RWDD2B Gene

neXtProt entry for RWDD2B Gene

Post-translational modifications for RWDD2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RWDD2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RWDD2B Gene

Domains & Families for RWDD2B Gene

Gene Families for RWDD2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RWDD2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RWDD2B: view

No data available for UniProtKB/Swiss-Prot for RWDD2B Gene

Function for RWDD2B Gene

Phenotypes From GWAS Catalog for RWDD2B Gene

Gene Ontology (GO) - Molecular Function for RWDD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RWDD2B: view
genes like me logo Genes that share phenotypes with RWDD2B: view

Animal Model Products

CRISPR Products

miRNA for RWDD2B Gene

miRTarBase miRNAs that target RWDD2B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RWDD2B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RWDD2B Gene

Localization for RWDD2B 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 RWDD2B gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RWDD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with RWDD2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RWDD2B Gene

Pathways & Interactions for RWDD2B Gene

SuperPathways for RWDD2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for RWDD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RWDD2B: view

No data available for Pathways by source and SIGNOR curated interactions for RWDD2B Gene

Drugs & Compounds for RWDD2B Gene

No Compound Related Data Available

Transcripts for RWDD2B Gene

Unigene Clusters for RWDD2B Gene

RWD domain containing 2B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RWDD2B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RWDD2B Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c
SP1: - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - -
SP9: - - -
SP10: - - - - -
SP11: - -
SP12: - - - - - - - - - - - - - -
SP13: - - - -

Relevant External Links for RWDD2B Gene

GeneLoc Exon Structure for
RWDD2B
ECgene alternative splicing isoforms for
RWDD2B

Expression for RWDD2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RWDD2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RWDD2B Gene

This gene is overexpressed in Testis (51.7) and Ovary (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RWDD2B Gene



Protein tissue co-expression partners for RWDD2B Gene

NURSA nuclear receptor signaling pathways regulating expression of RWDD2B Gene:

RWDD2B

SOURCE GeneReport for Unigene cluster for RWDD2B Gene:

Hs.713123

mRNA Expression by UniProt/SwissProt for RWDD2B Gene:

P57060-RWD2B_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RWDD2B Gene

  • Nervous system(3.9)
  • Lung(3.5)
  • Pancreas(2.4)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with RWDD2B: 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 RWDD2B Gene

Orthologs for RWDD2B Gene

This gene was present in the common ancestor of animals.

Orthologs for RWDD2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RWDD2B 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia RWDD2B 33 34
  • 89.85 (n)
cow
(Bos Taurus)
Mammalia RWDD2B 33 34
  • 87.82 (n)
rat
(Rattus norvegicus)
Mammalia Rwdd2b 33
  • 85.4 (n)
mouse
(Mus musculus)
Mammalia Rwdd2b 33 16 34
  • 84.83 (n)
oppossum
(Monodelphis domestica)
Mammalia RWDD2B 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves RWDD2B 33 34
  • 69.66 (n)
lizard
(Anolis carolinensis)
Reptilia RWDD2B 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rwdd2b 33
  • 60.44 (n)
zebrafish
(Danio rerio)
Actinopterygii rwdd2b 33 34
  • 60.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30338 34
  • 27 (a)
OneToMany
Species where no ortholog for RWDD2B 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RWDD2B Gene

ENSEMBL:
Gene Tree for RWDD2B (if available)
TreeFam:
Gene Tree for RWDD2B (if available)

Paralogs for RWDD2B Gene

Paralogs for RWDD2B Gene

(1) SIMAP similar genes for RWDD2B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for RWDD2B Gene

genes like me logo Genes that share paralogs with RWDD2B: view

Variants for RWDD2B Gene

Sequence variations from dbSNP and Humsavar for RWDD2B Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000101708 -- 29,009,823(+) ATGCT(A/G)GTATA intron-variant
rs1000325691 -- 29,010,627(+) AAAAA(-/AAAAAACC)AAAAA intron-variant
rs1000547552 -- 29,009,326(+) GCAAT(C/G)CTCCT intron-variant
rs1000663586 -- 29,009,151(+) GGCAT(A/G)ATCCC intron-variant
rs1000890847 -- 29,007,316(+) TGTGA(G/T)TTCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RWDD2B Gene

Variant ID Type Subtype PubMed ID
esv1501473 CNV insertion 17803354
esv1730794 CNV insertion 17803354
esv3893402 CNV gain 25118596
nsv1123549 CNV deletion 24896259
nsv513570 CNV insertion 21212237

Variation tolerance for RWDD2B Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RWDD2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RWDD2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RWDD2B Gene

Disorders for RWDD2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for RWDD2B Gene - From: GeneCards

Disorder Aliases PubMed IDs
monosomy 21
  • 21q deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RWDD2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RWDD2B
genes like me logo Genes that share disorders with RWDD2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RWDD2B Gene

Publications for RWDD2B Gene

  1. Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5. (PMID: 10729227) Orti R … Delabar JM (Genomics 2000) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 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 RWDD2B Gene

Sources for RWDD2B Gene

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