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

Gene ID: 10069, updated on 5-Mar-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
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Genomic context

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Location:
21q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29004384..29019349, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27367085..27382803, complement)
105.20220307 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
  • 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)

Genotypes

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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

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_2023_10

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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