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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

No data available for Entrez Gene 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
GH21F028991 0.2 ENCODE 24.8 +26.6 26561 2.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CCT8 LTN1 RPL12P9 RWDD2B ENSG00000231125 RPL23P2 N6AMT1 USP16 MAP3K7CL GC21M028976
GH21F029002 1.4 FANTOM5 Ensembl ENCODE 22.7 +16.2 16221 2.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CCT8 RWDD2B RPL12P9 LTN1 USP16 N6AMT1 GC21P029003 RPL23P2
GH21F029017 0.5 ENCODE 21.7 +0.5 456 2.6 ATF1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9 LTN1 RWDD2B RPL12P9 ENSG00000231125 CCT8 MAP3K7CL GC21P029012
GH21F029075 0.7 FANTOM5 ENCODE 20.4 -59.2 -59205 6.1 PKNOX1 WRNIP1 ZNF133 SIN3A YY1 ZNF548 SP3 NFYC TSHZ1 ZNF518A CCT8 ENSG00000231125 LTN1 RWDD2B RPL12P9 GRIK1-AS1 BACH1 USP16 GC21P029079 MAP3K7CL
GH21F029071 0.6 ENCODE 17.2 -53.4 -53415 3.5 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 CCT8 LTN1 N6AMT1 RWDD2B RPL23P2 RPL12P9 ENSG00000231125
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001566058 178 2001 ATF1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9

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

Suggested Antigen Peptide Sequences for RWDD2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57060

UniProtKB/Swiss-Prot:

RWD2B_HUMAN :
  • Contains 1 RWD domain.
Domain:
  • Contains 1 RWD domain.
genes like me logo Genes that share domains with RWDD2B: view

No data available for Gene Families for RWDD2B Gene

Function 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

miRNA for RWDD2B Gene

miRTarBase miRNAs that target RWDD2B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for RWDD2B Gene 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 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

Transcripts for RWDD2B Gene

Unigene Clusters for RWDD2B Gene

RWD domain containing 2B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with RWDD2B: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia RWDD2B 34 35
  • 89.85 (n)
cow
(Bos Taurus)
Mammalia RWDD2B 34 35
  • 87.82 (n)
rat
(Rattus norvegicus)
Mammalia Rwdd2b 34
  • 85.4 (n)
mouse
(Mus musculus)
Mammalia Rwdd2b 34 16 35
  • 84.83 (n)
oppossum
(Monodelphis domestica)
Mammalia RWDD2B 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves RWDD2B 34 35
  • 69.66 (n)
lizard
(Anolis carolinensis)
Reptilia RWDD2B 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rwdd2b 34
  • 60.44 (n)
zebrafish
(Danio rerio)
Actinopterygii rwdd2b 34 35
  • 60.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30338 35
  • 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
rs10427515 -- 29,014,002(+) TATTT(A/C)TATTG intron-variant
rs1047036 -- 29,008,582(-) GCAGG(C/T)GGAGG reference, missense
rs10854321 -- 29,017,836(+) CGAAC(A/G)GCATA intron-variant
rs111306919 -- 29,012,664(+) TAGGA(A/G)AACCA intron-variant
rs111322276 -- 29,005,872(+) CCTTC(C/G)TCGTG utr-variant-3-prime

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 J.-M. (Genomics 2000) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for RWDD2B Gene

Sources for RWDD2B Gene

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