WDR82 WD repeat domain 82 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR82provided by HGNC
Official Full Name: WD repeat domain 82provided by HGNC
Primary source: HGNC:HGNC:28826
See related: Ensembl:ENSG00000164091 MIM:611059; AllianceGenome:HGNC:28826
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SWD2; MST107; WDR82A; MSTP107; PRO2730; TMEM113; PRO34047
Summary: TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]
Expression: Ubiquitous expression in brain (RPKM 35.2), endometrium (RPKM 34.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52254434..52278649, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52287321..52311534, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52288450..52312665, complement)

Chromosome 3 - NC_000003.12 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?

Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82.
Title: Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82.
ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters.
Title: ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters.
A first exon termination checkpoint preferentially suppresses extragenic transcription.
Title: A first exon termination checkpoint preferentially suppresses extragenic transcription.
By making a stoichiometric complex with the RNA-binding protein ZC3H4, WDR82 controls termination of extragenic transcription in human and mouse cells. Cells depleted of the WDR82-ZC3H4 complex show greatly enhanced synthesis of long and spliced extragenic transcripts.
Title: A first exon termination checkpoint preferentially suppresses extragenic transcription.
these findings demonstrate that WDR82 is a negative regulator of virus-triggered type I IFNs pathway through mediating TRAF3 polyubiquitination status and stability on mitochondria.
Title: WDR82 Negatively Regulates Cellular Antiviral Response by Mediating TRAF3 Polyubiquitination in Multiple Cell Lines.
mammalian Wdr82 functions in a variety of cellular processes; PTW/PP1 phosphatase complex (PNUTS, Tox4, Wdr82, PP1) has a role in the regulation of chromatin structure during the transition from mitosis into interphase
Title: Identification and characterization of a novel human PP1 phosphatase complex.
Data show that Wdr82, which associates with chromatin in a histone H2B ubiquitination-dependent manner, is a specific component of Set1 complexes but not that of MLL1-4 complexes.
Title: Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.
suggest a model for how the mammalian RNA polymerase II machinery is linked with histone H3-Lys4 histone methyltransferase complexes at transcriptionally active genes
Title: Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.

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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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 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
Tat	tat	Depletion of WD repeat domain 82 (WDR82) by siRNA enhances HIV-1 Tat activation of HIV-1 LTR, which is not the results of increased Tat expression and release of CDK9/CCNT1 from 7SK snRNP, and activation of NF-kappaB	PubMed

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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

SHGC-34682 (e-PCR)
- UniSTS:70165

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

RH65382 (e-PCR)
- UniSTS:84283

D3S1648 (e-PCR)
- UniSTS:35939

RH122975 (e-PCR)
- UniSTS:135271

D15S1477 (e-PCR)
- UniSTS:474482

RH125637 (e-PCR)
- UniSTS:163233

SHGC-77002 (e-PCR)
- UniSTS:8374

STS-H08817 (e-PCR)
- UniSTS:82871

D3S1648 (e-PCR)
- UniSTS:154295

D3S3025 (e-PCR)
- UniSTS:66032

G59796 (e-PCR)
- UniSTS:136945

STS-N92524 (e-PCR)
- UniSTS:80380

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription termination	IEA Inferred from Electronic Annotation more info
involved_in lncRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription, elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lncRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear RNA surveillance	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of PTW/PP1 phosphatase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Set1C/COMPASS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Set1C/COMPASS complex	IDA Inferred from Direct Assay more info	PubMed
part_of Set1C/COMPASS complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: WD repeat-containing protein 82

Names: transmembrane protein 113

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_025222.4 → NP_079498.2 WD repeat-containing protein 82

See identical proteins and their annotated locations for NP_079498.2

Status: VALIDATED

Source sequence(s)

AC092045, AI478905, AK098435, AY358264, DB500464

Consensus CDS

CCDS2851.2

UniProtKB/Swiss-Prot

A8K5R5, Q6UXN9, Q8TEB2

Related

ENSP00000296490.3, ENST00000296490.8

Conserved Domains (2) summary

cd00200
Location:15 → 300

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:24 → 61

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

52254434..52278649 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534136.3 → XP_011532438.1 WD repeat-containing protein 82 isoform X1

Related

ENSP00000420779.2, ENST00000469000.6

Conserved Domains (3) summary

COG2319
Location:7 → 223

WD40; WD40 repeat [General function prediction only]

sd00039
Location:30 → 68

7WD40; WD40 repeat [structural motif]

cl02567
Location:7 → 220

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 ...