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    RWDD4 RWD domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 201965, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RWDD4provided by HGNC
    Official Full Name
    RWD domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:23750
    See related
    Ensembl:ENSG00000182552 AllianceGenome:HGNC:23750
    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
    FAM28A; RWDD4A
    Expression
    Ubiquitous expression in adrenal (RPKM 29.0), ovary (RPKM 20.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RWDD4 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (183639635..183659185, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (186982826..187002381, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (184560788..184580338, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377580 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22185 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184579545-184580333 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184580334-184581121 Neighboring gene RNA, U6 small nuclear 479, pseudogene Neighboring gene trafficking protein particle complex subunit 11 Neighboring gene RNA, U6 small nuclear 335, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:184614366-184615565 Neighboring gene RNA, U6 small nuclear 1053, pseudogene

    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. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    3. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article
    5. An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity. Zhang Y, et al. Cell Chem Biol, 2022 Jan 20. PMID 34672954, Free PMC Article

    See all (25) 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

    • MGC10198

    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 4
    Names
    RWD domain containing 4A
    RWD domain-containing protein 4A
    family with sequence similarity 28, member A

    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_001307922.2 → NP_001294851.1  RWD domain-containing protein 4 isoform 2

      See identical proteins and their annotated locations for NP_001294851.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC108477, AK315515, AL540937, AL559547, BC017472, BQ185399, DA250301, DA766837
      Consensus CDS
      CCDS77986.1
      UniProtKB/TrEMBL
      E7EV43
      Related
      ENSP00000423598.1, ENST00000512740.1
      Conserved Domains (1) summary
      cl02687
      Location:6 → 44
      RWD; RWD domain

    2. NM_152682.4 → NP_689895.2  RWD domain-containing protein 4 isoform 1

      See identical proteins and their annotated locations for NP_689895.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108477, AK315515, AL540937, BC017472, BQ185399, DA250301, DA766837
      Consensus CDS
      CCDS34111.1
      UniProtKB/Swiss-Prot
      B2RDE9, B4DDP2, Q6NW29, Q75LA9, Q8WVW2
      Related
      ENSP00000388920.2, ENST00000326397.10
      Conserved Domains (1) summary
      pfam05773
      Location:5 → 107
      RWD; RWD domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      183639635..183659185 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449747.1 → XP_047305703.1  RWD domain-containing protein 4 isoform X1

    2. XM_047449748.1 → XP_047305704.1  RWD domain-containing protein 4 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      186982826..187002381 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349167.1 → XP_054205142.1  RWD domain-containing protein 4 isoform X1

    2. XM_054349168.1 → XP_054205143.1  RWD domain-containing protein 4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NW29.3 GenPept UniProtKB/Swiss-Prot:Q6NW29

    Gene LinkOut

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

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