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    RWDD2B RWD domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 10069, updated on 14-Nov-2024

    Summary

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    Official Symbol
    RWDD2Bprovided by HGNC
    Official Full Name
    RWD domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:1302
    See related
    Ensembl:ENSG00000156253 MIM:617843; AllianceGenome:HGNC:1302
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GL011; C21orf6
    Expression
    Ubiquitous expression in testis (RPKM 9.4), prostate (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RWDD2B in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29004384..29019349, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27367085..27382803, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (30376705..30391670, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18325 Neighboring gene uncharacterized LOC105372766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18326 Neighboring gene ribosomal protein L23 pseudogene 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr21:30384585-30385165 Neighboring gene uncharacterized LOC124905005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18328 Neighboring gene ubiquitin specific peptidase 16 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:30416252-30416450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18330 Neighboring gene chaperonin containing TCP1 subunit 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:30445041-30445952 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:30445953-30446864

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility. Parker E, et al. Arthritis Rheumatol, 2021 Jan. PMID 32755071
    2. 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. Orti R, et al. Genomics, 2000 Mar 1. PMID 10729227
    3. A C-terminal glutamine recognition mechanism revealed by E3 ligase TRIM7 structures. Liang X, et al. Nat Chem Biol, 2022 Nov. PMID 35982226
    4. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. Warnatz HJ, et al. Nucleic Acids Res, 2010 Oct. PMID 20494980, Free PMC Article
    5. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility.
      Title: Multi-Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility.
    2. The RWDD2B distal promoter contains an activating cis-regulatory element that is responsive to Trichostatin A (TSA) treatment and to serum depletion according to promoter reporter assays in HEK 293 cells.
      Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    RWD domain-containing protein 2B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001320724.2 → NP_001307653.1  RWD domain-containing protein 2B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region that results in use of a downstream start AUG compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA406228, AF129075, BI710995, CA425694, DB039085
      UniProtKB/TrEMBL
      Q53FD2
      Conserved Domains (2) summary
      pfam05773
      Location:5 → 133
      RWD; RWD domain
      pfam06544
      Location:163 → 222
      DUF1115; Protein of unknown function (DUF1115)

    2. NM_016940.3 → NP_058636.1  RWD domain-containing protein 2B isoform 1

      See identical proteins and their annotated locations for NP_058636.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF129075, AL355727, BC012546, BC017912
      Consensus CDS
      CCDS13582.1
      UniProtKB/Swiss-Prot
      P57060
      UniProtKB/TrEMBL
      Q53FD2
      Related
      ENSP00000418693.1, ENST00000493196.2
      Conserved Domains (2) summary
      pfam05773
      Location:37 → 162
      RWD; RWD domain
      pfam06544
      Location:192 → 310
      DUF1115; Protein of unknown function (DUF1115)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      29004384..29019349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791813.1 Reference GRCh38.p14 PATCHES

      Range
      95118..110083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      27367085..27382803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57060.1 GenPept UniProtKB/Swiss-Prot:P57060

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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