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

Summary

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

Location:: 10p15.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (1056385..1132372)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (1053000..1128899)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (1102325..1178312)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Title: Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
Title: De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
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.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New loci associated with kidney function and chronic kidney disease.
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.
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 EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-80039 (e-PCR)
- UniSTS:101649

D10S488E (e-PCR)
- UniSTS:473110

STS-T96998 (e-PCR)
- UniSTS:61206

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

RH119177 (e-PCR)
- UniSTS:139068

L18426 (e-PCR)
- UniSTS:34648

D10S1388E (e-PCR)
- UniSTS:151385

A009B42 (e-PCR)
- UniSTS:35422

RH44795 (e-PCR)
- UniSTS:42863

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

STS-M78768 (e-PCR)
- UniSTS:10701

D10S2279 (e-PCR)
- UniSTS:49876

G32396 (e-PCR)
- UniSTS:116984

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)

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]