WDR36 WD repeat domain 36 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR36provided by HGNC
Official Full Name: WD repeat domain 36provided by HGNC
Primary source: HGNC:HGNC:30696
See related: Ensembl:ENSG00000134987 MIM:609669; AllianceGenome:HGNC:30696
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: GLC1G; UTP21; TAWDRP; TA-WDRP
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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 7.1), lymph node (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q22.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (111092348..111130502)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (111602982..111641140)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (110428046..110466200)

Chromosome 5 - NC_000005.10 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
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?

WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.
Title: WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.
Study suggests that WDR36 gene is involved in the pathogenesis of juvenile open-angle glaucoma in Taiwan population as a subordinate modifier gene.
Title: An Application of NGS for WDR36 Gene in Taiwanese Patients with Juvenile-Onset Open-Angle Glaucoma.
Meta-analysis does not support a significant role of WDR36 in the genetic susceptibility of primary open angle glaucoma or its subtypes.
Title: Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.
The association between WDR36 and POAG was not supported, and the majority of POAG cases did not harbor a potentially disease-causing variant in the remaining Mendelian genes.
Title: Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Familial linkage studies for primary angle-closure glaucoma have been performed and identified WDR36 causative primary angle-closure glaucoma disease
Title: Advances in glaucoma genetics.
According to molecular genetic studies, WDR36 causative gene involved in the development of Primary open-angle glaucoma.
Title: [Genetic studies of primary open-angle glaucoma].
Single nucleotide polymorphism in the WDR36 gene, rs10038177 (c.710+30C>T), was found to be strongly associated with the high tension glaucoma cases, but not with controls in the East Indian population.
Title: WDR36 variants in East Indian primary open-angle glaucoma patients.
Rare WDR36 variants and the P53 p.R72P polymorphism behaved as moderate glaucoma risk factors in Spanish patients. The authors provide evidence for a genetic interaction between WDR36 and P53 variants in glaucoma susceptibility.
Title: WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, Galphaq and phospholipase C beta 2 in a signalling complex
Title: WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, Gαq and phospholipase Cβ in a signalling complex.
WDR36 sequence variance was only a rare cause of primary open-angel glaucoma glaucoma in Italian families with glaucoma.
Title: Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.

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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
Glaucoma 1, open angle, G MedGen: C1835933 OMIM: 609887 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 5q22 associate with pediatric eosinophilic esophagitis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, WD repeat-containing protein 36 (WDR36), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with WDR36 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47364 (e-PCR)
- UniSTS:82200

RH35945 (e-PCR)
- UniSTS:41783

RH47684 (e-PCR)
- UniSTS:28222

RH71412 (e-PCR)
- UniSTS:45289

RH102681 (e-PCR)
- UniSTS:97015

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in rRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Pwp2p-containing subcomplex of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 36

Names: T-cell activation WD repeat protein; T-cell activation WD repeat-containing protein

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

NG_008979.2 RefSeqGene

Range

5002..43156

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_139281.3 → NP_644810.2 WD repeat-containing protein 36

Status: REVIEWED

Source sequence(s)

AC008572, AF385437

Consensus CDS

CCDS4102.2

UniProtKB/Swiss-Prot

A2RUS4, Q68E02, Q8N1Q2, Q8NI36

UniProtKB/TrEMBL

A0A0A0MTB8

Related

ENSP00000424628.3, ENST00000513710.4

Conserved Domains (3) summary

sd00039
Location:110 → 144

7WD40; WD40 repeat [structural motif]

pfam04192
Location:670 → 891

Utp21; Utp21 specific WD40 associated putative domain

cl29593
Location:276 → 594

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 ...