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

    Gene ID: 112611, updated on 27-Nov-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
    mouse all
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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
    • 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)

    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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