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

Gene ID: 10069, updated on 3-Mar-2026
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
all
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See RWDD2B in Genome Data Viewer
Location:
21q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (29004384..29019349, complement)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Preferred Names
RWD domain-containing protein 2B

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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_2025_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

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