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

Gene ID: 80232, updated on 5-Mar-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
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Genomic context

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Location:
1q42.11-q42.12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (224385146..224434797, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (223573956..223623646, complement)
105.20220307 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. Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability. Hu J, et al. Genes (Basel), 2022 May 2. PMID 35627197, 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 (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.
    Title: Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability.
  2. 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.
  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.
    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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. WDR26 serves as a scaffold that fosters assembly of a specific signaling complex consisting of Gbetagamma, PI3Kbeta and AKT2 in breast cancer.
    Title: Upregulated WDR26 serves as a scaffold to coordinate PI3K/ AKT pathway-driven breast cancer cell growth, migration, and invasion.
  10. The WDR26 gene was differentially methylated in monozygotic twins discordant for depressive disorder.
    Title: Genome-wide methylation study on depression: differential methylation and variable methylation in monozygotic twins.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Compare labs

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)

Genotypes

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 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_2023_10

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

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