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RWDD2A RWD domain containing 2A [ Homo sapiens (human) ]

Gene ID: 112611, updated on 10-Oct-2024

Summary

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Official Symbol
RWDD2Aprovided by HGNC
Official Full Name
RWD domain containing 2Aprovided by HGNC
Primary source
HGNC:HGNC:21385
See related
Ensembl:ENSG00000013392 AllianceGenome:HGNC:21385
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
RWDD2; dJ747H23.2
Expression
Broad expression in prostate (RPKM 6.9), testis (RPKM 5.4) and 24 other tissues See more
Orthologs
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Genomic context

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See RWDD2A in Genome Data Viewer
Location:
6q14.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83193357..83198935)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (84416598..84422177)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (83903076..83908654)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3D Neighboring gene leucine aminopeptidase 3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:83710771-83710962 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:83747652-83748851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24783 Neighboring gene NANOG hESC enhancer GRCh37_chr6:83821047-83821571 Neighboring gene DOP1 leucine zipper like protein A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:83902947-83903446 Neighboring gene phosphoglucomutase 3 Neighboring gene MPRA-validated peak5928 silencer Neighboring gene malic enzyme 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:84004031-84004257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17358 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:84140986-84142185 Neighboring gene serine protease 35

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. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
  2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  4. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS(G13D). Kennedy SA, et al. Nat Commun, 2020 Jan 24. PMID 31980649, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Clone Names

  • MGC13523, MGC138208

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 2A
Names
RWD domain containing 2

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_001322335.2 → NP_001309264.1  RWD domain-containing protein 2A isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AJ420581, AK302978, AW197622, BC104816, CN414510, DA032938, DC377982
    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:85 → 206
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:1 → 59
    RWD; RWD domain

  2. NM_001322336.2 → NP_001309265.1  RWD domain-containing protein 2A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an additional internal exon and thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a. Variants 3, 4 and 5 all encode isoform c.
    Source sequence(s)
    AJ420581, AW197622, BC104816, CD108545, CN414510, DA032938, DC377982
    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:94 → 215
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:2 → 68
    RWD; RWD domain

  3. NM_001322337.2 → NP_001309266.1  RWD domain-containing protein 2A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an additional internal exon and thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a. Variants 3, 4 and 5 all encode isoform c.
    Source sequence(s)
    AJ420581, AW197622, BC104816, BG676907, CN414510, DA032938, DC377982
    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:94 → 215
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:2 → 68
    RWD; RWD domain

  4. NM_001322339.2 → NP_001309268.1  RWD domain-containing protein 2A isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and contains an additional internal exon, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a. Variants 3, 4 and 5 all encode isoform c.
    Source sequence(s)
    AJ420581, AW197622, BC104816, CD108545, CN414510, DA032938, DC377982
    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:94 → 215
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:2 → 68
    RWD; RWD domain

  5. NM_033411.5 → NP_219479.2  RWD domain-containing protein 2A isoform a

    See identical proteins and their annotated locations for NP_219479.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AJ420581, AK313083, AW197622, BC104816, CN414510, DA032938, DC377982
    Consensus CDS
    CCDS4998.1
    UniProtKB/Swiss-Prot
    B4DIQ3, E1P548, Q2M3R3, Q96FH1, Q9UIY3
    UniProtKB/TrEMBL
    B2R7R2
    Related
    ENSP00000358739.3, ENST00000369724.5
    Conserved Domains (2) summary
    smart00591
    Location:15 → 134
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain
    pfam06544
    Location:160 → 281
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    83193357..83198935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418135.1 → XP_047274091.1  RWD domain-containing protein 2A isoform X2

  2. XM_047418134.1 → XP_047274090.1  RWD domain-containing protein 2A isoform X1

    UniProtKB/Swiss-Prot
    B4DIQ3, E1P548, Q2M3R3, Q96FH1, Q9UIY3

  3. XM_017010222.3 → XP_016865711.1  RWD domain-containing protein 2A isoform X2

    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:94 → 215
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:2 → 68
    RWD; RWD domain

  4. XM_017010223.2 → XP_016865712.1  RWD domain-containing protein 2A isoform X2

    UniProtKB/TrEMBL
    B4DZK9
    Conserved Domains (2) summary
    pfam06544
    Location:94 → 215
    DUF1115; Protein of unknown function (DUF1115)
    cl02687
    Location:2 → 68
    RWD; RWD domain

  5. XM_047418136.1 → XP_047274092.1  RWD domain-containing protein 2A isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    84416598..84422177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354137.1 → XP_054210112.1  RWD domain-containing protein 2A isoform X2

  2. XM_054354138.1 → XP_054210113.1  RWD domain-containing protein 2A isoform X2

  3. XM_054354139.1 → XP_054210114.1  RWD domain-containing protein 2A isoform X2

  4. XM_054354135.1 → XP_054210110.1  RWD domain-containing protein 2A isoform X1

    UniProtKB/Swiss-Prot
    B4DIQ3, E1P548, Q2M3R3, Q96FH1, Q9UIY3

  5. XM_054354136.1 → XP_054210111.1  RWD domain-containing protein 2A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIY3.1 GenPept UniProtKB/Swiss-Prot:Q9UIY3

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