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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
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Genomic context

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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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NEW Try the new Transcript table

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

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