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    WDR37 WD repeat domain 37 [ Homo sapiens (human) ]

    Gene ID: 22884, updated on 5-Mar-2024

    Summary

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    Official Symbol
    WDR37provided by HGNC
    Official Full Name
    WD repeat domain 37provided by HGNC
    Primary source
    HGNC:HGNC:31406
    See related
    Ensembl:ENSG00000047056 MIM:618586; AllianceGenome:HGNC:31406
    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
    NOCGUS
    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. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 11.4), spleen (RPKM 8.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR37 in Genome Data Viewer
    Location:
    10p15.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (1056385..1132372)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (1053000..1128899)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (1102325..1178312)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1036121-1037016 Neighboring gene GTP binding protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1050745-1051244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1054558-1055058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1055059-1055559 Neighboring gene IDI2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2894 Neighboring gene isopentenyl-diphosphate delta isomerase 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:1088961-1090160 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr10:1094306-1094836 and GRCh37_chr10:1094837-1095366 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:1095367-1095896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2899 Neighboring gene isopentenyl-diphosphate delta isomerase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1130525-1131024 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:1141578-1142777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:1148139-1148671 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:1155609-1156808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1163429-1163930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1166460-1167101 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:1167102-1167742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1196487-1196986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1199503-1200004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1200005-1200504 Neighboring gene uncharacterized LOC105376344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:1201744-1202634 Neighboring gene long intergenic non-protein coding RNA 200

    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. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. Hay E, et al. Clin Genet, 2020 Aug. PMID 32530092
    2. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. Reis LM, et al. Am J Hum Genet, 2019 Aug 1. PMID 31327510, Free PMC Article
    3. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Kanca O, et al. Am J Hum Genet, 2019 Aug 1. PMID 31327508, Free PMC Article
    4. WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. Sorokina EA, et al. Hum Genet, 2021 Dec. PMID 34642815, Free PMC Article
    5. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. Sakaguchi Y, et al. Am J Med Genet A, 2021 Mar. PMID 33369122

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation.
      Title: Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation.
    2. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
      Title: Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
    3. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
      Title: Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
    4. Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
      Title: De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    5. Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
      Title: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
    6. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: New loci associated with kidney function and chronic kidney disease.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    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

    Associated conditions

    Description Tests
    Neurooculocardiogenitourinary syndrome
    MedGen: C5231443 OMIM: 618652 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40354, KIAA0982

    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 corpus callosum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphocyte homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 37

    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_014023.4 → NP_054742.2  WD repeat-containing protein 37

      See identical proteins and their annotated locations for NP_054742.2

      Status: REVIEWED

      Source sequence(s)
      AB023199, AC022536, AL136827, AL607085
      Consensus CDS
      CCDS7057.1
      UniProtKB/Swiss-Prot
      A8K976, D3DRQ7, Q5SW03, Q8WVG2, Q9NTJ6, Q9Y2I8
      UniProtKB/TrEMBL
      A0A994J4U2
      Related
      ENSP00000263150.4, ENST00000263150.9
      Conserved Domains (3) summary
      COG2319
      Location:124 → 486
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:148 → 484
      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:159 → 197
      7WD40; WD40 repeat [structural motif]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      1056385..1132372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      1053000..1128899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2I8.2 GenPept UniProtKB/Swiss-Prot:Q9Y2I8

    Gene LinkOut

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

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