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    WDR76 WD repeat domain 76 [ Homo sapiens (human) ]

    Gene ID: 79968, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR76provided by HGNC
    Official Full Name
    WD repeat domain 76provided by HGNC
    Primary source
    HGNC:HGNC:25773
    See related
    Ensembl:ENSG00000092470 MIM:620302; AllianceGenome:HGNC:25773
    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
    CMR1; CDW14
    Summary
    Enables enzyme binding activity. Involved in DNA damage response. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lymph node (RPKM 6.6), bone marrow (RPKM 3.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR76 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43827002..43868412)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41634360..41675772)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44119200..44160610)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SERF2-C15orf63 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44092216-44092916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:44104820-44106019 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:44116704-44117335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6390 Neighboring gene microfibril associated protein 1 Neighboring gene huntingtin interacting protein K Neighboring gene VISTA enhancer hs1881 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1 Neighboring gene FERM domain containing 5 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220113-44220764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:44220765-44221414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9333 Neighboring gene NANOG hESC enhancer GRCh37_chr15:44265102-44265603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281101-44281938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281939-44282775 Neighboring gene ACTB pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Feline immunodeficiency virus integration in B-cell lymphoma identifies a candidate tumor suppressor gene on human chromosome 15q15. Beatty J, et al. Cancer Res, 2002 Dec 15. PMID 12499253
    2. WDR76 degrades RAS and suppresses cancer stem cell activation in colorectal cancer. Ro EJ, et al. Cell Commun Signal, 2019 Jul 30. PMID 31362761, Free PMC Article
    3. Mutations in the candidate tumour suppressor gene FLJ12973 on chromosome 15q15 are rare in colorectal cancer. Fleischmann C, et al. Cancer Lett, 2003 Jun 30. PMID 12860291
    4. Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells. Kwon M, et al. Eur J Pharmacol, 2022 May 15. PMID 35381263
    5. The role of WDR76 protein in human diseases. Yang J, et al. Bosn J Basic Med Sci, 2021 Oct 1. PMID 33714259, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells.
      Title: Kurarinone induced p53-independent G0/G1 cell cycle arrest by degradation of K-RAS via WDR76 in human colorectal cancer cells.
    2. The role of WDR76 protein in human diseases.
      Title: The role of WDR76 protein in human diseases.
    3. Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome.
      Title: Biochemical Reduction of the Topology of the Diverse WDR76 Protein Interactome.
    4. destabilization of RAS by WDR76 is a potential strategy for targeting malignant CRC involving CSC activation
      Title: WDR76 degrades RAS and suppresses cancer stem cell activation in colorectal cancer.
    5. Study identifies WD40-repeat protein 76 (WDR76) as one of the HRAS binding proteins using proteomic analyses of hepatocellular carcinomas tissue form human patients and mouse diethylnitrosamine-induced liver carcinogenesis model and demonstrates that WDR76 functions as a tumor suppressor via RAS degradation.
      Title: WDR76 is a RAS binding protein that functions as a tumor suppressor via RAS degradation.
    6. work demonstrates the chromatin and DNA damage protein associations of WDR76 and demonstrates the rapid response of WDR76 to laser induced DNA damage
      Title: WDR76 Co-Localizes with Heterochromatin Related Proteins and Rapidly Responds to DNA Damage.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. To examine the proposition that FLJ12973 is involved in colorectal cancer we analysed 31 tumours for sequence variation. No missense changes or pathogenic mutations--truncating or splice site--were detected in any of the tumours.
      Title: Mutations in the candidate tumour suppressor gene FLJ12973 on chromosome 15q15 are rare in colorectal cancer.
    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

    EBI GWAS Catalog

    Description
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog

    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

    • FLJ12973

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA damage checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in heterochromatin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in site of DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 76

    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_001167941.2 → NP_001161413.1  WD repeat-containing protein 76 isoform 2

      See identical proteins and their annotated locations for NP_001161413.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA743653, AC023356, AK023035, BC025247, BC051855, BX374706
      Consensus CDS
      CCDS53938.1
      UniProtKB/TrEMBL
      A0A0C4DFX7
      Related
      ENSP00000370645.2, ENST00000381246.6
      Conserved Domains (2) summary
      sd00039
      Location:252 → 294
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:249 → 460
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_024908.4 → NP_079184.2  WD repeat-containing protein 76 isoform 1

      See identical proteins and their annotated locations for NP_079184.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA743653, AC023356, AK023035, BC025247, DA439086
      Consensus CDS
      CCDS10106.1
      UniProtKB/Swiss-Prot
      A0MNP5, Q05CI4, Q9H967
      Related
      ENSP00000263795.6, ENST00000263795.11
      Conserved Domains (3) summary
      COG2319
      Location:242 → 541
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:316 → 358
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:313 → 524
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43827002..43868412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41634360..41675772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H967.2 GenPept UniProtKB/Swiss-Prot:Q9H967

    Gene LinkOut

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

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