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    WDR26 WD repeat domain 26 [ Homo sapiens (human) ]

    Gene ID: 80232, updated on 10-Dec-2024

    Summary

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    Official Symbol
    WDR26provided by HGNC
    Official Full Name
    WD repeat domain 26provided by HGNC
    Primary source
    HGNC:HGNC:21208
    See related
    Ensembl:ENSG00000162923 MIM:617424; AllianceGenome:HGNC:21208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDW2; GID7; MIP2; SKDEAS
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 30.1), esophagus (RPKM 28.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR26 in Genome Data Viewer
    Location:
    1q42.11-q42.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224385146..224434797, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223573956..223623646, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (224572848..224622499, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224527150-224527870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224528593-224529312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2609 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224544931-224545431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2611 Neighboring gene cornichon family member 4 Neighboring gene microRNA 4742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616083-224616672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224616673-224617262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2612 Neighboring gene cornichon family AMPA receptor auxiliary protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224661692-224661861 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224667779-224668305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:224685507-224686036 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:224686037-224686568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224687944-224688444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:224688445-224688945 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224696756-224697667 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:224703315-224703519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:224759465-224759964 Neighboring gene aldehyde reductase family 1 member B1 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:224794759-224795606 Neighboring gene CNIH3 antisense RNA 2

    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. Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly. Gross A, et al. FEBS Lett, 2024 May. PMID 38575527, Free PMC Article
    2. Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies. Sun D, et al. Front Pediatr, 2021. PMID 34055682, Free PMC Article
    3. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. Pavinato L, et al. Am J Med Genet A, 2021 Jun. PMID 33675273
    4. Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Cospain A, et al. Clin Genet, 2021 May. PMID 33506510
    5. WD40 Repeat Protein 26 Negatively Regulates Formyl Peptide Receptor-1 Mediated Wound Healing in Intestinal Epithelial Cells. Hasegawa M, et al. Am J Pathol, 2020 Oct. PMID 32958140, Free PMC Article

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.
      Title: Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism.
    2. Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.
      Title: Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.
    3. Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.
      Title: Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.
    4. Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
      Title: Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
    5. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
      Title: Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
    6. GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
      Title: GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme.
    7. WD40 Repeat Protein 26 Negatively Regulates Formyl Peptide Receptor-1 Mediated Wound Healing in Intestinal Epithelial Cells.
      Title: WD40 Repeat Protein 26 Negatively Regulates Formyl Peptide Receptor-1 Mediated Wound Healing in Intestinal Epithelial Cells.
    8. haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome.
      Title: WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
    9. It has been shown that WDR26 promotes Rac1 membrane translocation following a Coro1A-like and Coro1A-dependent mechanism.
      Title: Characterization of Novel Molecular Mechanisms Favoring Rac1 Membrane Translocation.
    10. WDR26 affected beta-catenin levels. WDR26/Axin binding is involved in the ubiquitination of beta-catenin.
      Title: WDR26 is a new partner of Axin1 in the canonical Wnt signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    Associated conditions

    Description Tests
    Skraban-Deardorff syndrome
    MedGen: C4539927 OMIM: 617616 GeneReviews: WDR26-Related Intellectual Disability
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-04-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-04-27)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21016

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of GID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 26
    Names
    CUL4- and DDB1-associated WDR protein 2
    GID complex subunit 7 homolog
    myocardial ischemic preconditioning upregulated protein 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.

    Genomic

    1. NG_047198.1 RefSeqGene

      Range
      4503..54154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001115113.3 → NP_001108585.2  WD repeat-containing protein 26 isoform b

      See identical proteins and their annotated locations for NP_001108585.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC099790, AY221751, BF509638, BU673957, CN283908
      UniProtKB/TrEMBL
      A0A7P0SXD0
      Related
      ENSP00000498603.2, ENST00000651911.2
      Conserved Domains (4) summary
      smart00668
      Location:156 → 215
      CTLH; C-terminal to LisH motif
      cd00200
      Location:333 → 625
      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 ...
      sd00039
      Location:343 → 383
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:126 → 153
      LisH_TPL; LisH-like dimerisation domain

    2. NM_001379403.1 → NP_001366332.1  WD repeat-containing protein 26 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC099790
      Consensus CDS
      CCDS91162.1
      UniProtKB/TrEMBL
      A0A499FIZ0, A0A7I2YQQ9
      Related
      ENSP00000408108.4, ENST00000414423.9
      Conserved Domains (4) summary
      smart00668
      Location:256 → 331
      CTLH; C-terminal to LisH motif
      cd00200
      Location:449 → 741
      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 ...
      sd00039
      Location:459 → 499
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:226 → 253
      LisH_TPL; LisH-like dimerisation domain

    3. NM_025160.7 → NP_079436.4  WD repeat-containing protein 26 isoform a

      See identical proteins and their annotated locations for NP_079436.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.
      Source sequence(s)
      AB209887, AC099790, BU673957, CN283908
      Consensus CDS
      CCDS31037.2
      UniProtKB/Swiss-Prot
      A0MNN3, Q4G100, Q59EC4, Q5GLZ9, Q86UY4, Q9H3C2, Q9H7D7
      UniProtKB/TrEMBL
      A0A7P0SXD0
      Related
      ENSP00000504428.1, ENST00000678917.1
      Conserved Domains (4) summary
      smart00668
      Location:156 → 231
      CTLH; C-terminal to LisH motif
      cd00200
      Location:349 → 641
      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 ...
      sd00039
      Location:359 → 399
      7WD40; WD40 repeat [structural motif]
      pfam17814
      Location:126 → 153
      LisH_TPL; LisH-like dimerisation 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      224385146..224434797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      223573956..223623646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7D7.3 GenPept UniProtKB/Swiss-Prot:Q9H7D7

    Gene LinkOut

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

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