WDR12 WD repeat domain 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR12provided by HGNC
Official Full Name: WD repeat domain 12provided by HGNC
Primary source: HGNC:HGNC:14098
See related: Ensembl:ENSG00000138442 MIM:616620; AllianceGenome:HGNC:14098
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: YTM1
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. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]
Expression: Ubiquitous expression in testis (RPKM 5.2), kidney (RPKM 3.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (202874261..202911673, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (203355718..203393126, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (203738984..203776396, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

circMIRIAF aggravates myocardial ischemia-reperfusion injury via targeting miR-544/WDR12 axis.
Title: circMIRIAF aggravates myocardial ischemia-reperfusion injury via targeting miR-544/WDR12 axis.
Integrative genomic analyses identify WDR12 as a novel oncogene involved in glioblastoma.
Title: Integrative genomic analyses identify WDR12 as a novel oncogene involved in glioblastoma.
MI associated WDR12 allele was associated significantly with diastolic dysfunction and left atrial size.
Title: WDR12, a Member of Nucleolar PeBoW-Complex, Is Up-Regulated in Failing Hearts and Causes Deterioration of Cardiac Function.
The DDX27 can interact specifically with the Pes1 and Bop1 but fulfils critical function(s) for proper 3' end formation of 47S rRNA independently of the PeBoW-complex.
Title: DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.
Observational study of gene-disease association. (HuGE Navigator)
Title: A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Additive effect of multiple genetic variants on the risk of coronary artery disease.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
WDR12 triggers accumulation of p53 in a p19ARF-independent manner in proliferating cells but not in quiescent cells.
Title: Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.
Results describe the role of PeBoW-specific proteins Pes1, Bop1, and WDR12 in complex assembly and stability, nucleolar transport, and pre-ribosome association.
Title: Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.

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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 of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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

G63182 (e-PCR)
- UniSTS:140299

RH65532 (e-PCR)
- UniSTS:83637

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoprotein complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal large subunit biogenesis	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
part_of PeBoW complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PeBoW complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of preribosome, large subunit precursor	IBA Inferred from Biological aspect of Ancestor more info
part_of preribosome, large subunit precursor	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ribosome biogenesis protein WDR12

Names: WD repeat-containing protein 12

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_001371664.1 → NP_001358593.1 ribosome biogenesis protein WDR12 isoform 2

Status: REVIEWED

Source sequence(s)

AC010900

UniProtKB/TrEMBL

B4DRY7

Conserved Domains (2) summary

cd00200
Location:26 → 275

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:55 → 117

7WD40; WD40 repeat [structural motif]
NM_018256.4 → NP_060726.3 ribosome biogenesis protein WDR12 isoform 1

See identical proteins and their annotated locations for NP_060726.3

Status: REVIEWED

Source sequence(s)

AC010900

Consensus CDS

CCDS2356.1

UniProtKB/Swiss-Prot

B3KPA9, Q96HU0, Q9GZL7, Q9NV80, Q9NYI8

UniProtKB/TrEMBL

Q53T99

Related

ENSP00000261015.4, ENST00000261015.5

Conserved Domains (3) summary

cd00200
Location:100 → 409

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:193 → 255

7WD40; WD40 repeat [structural motif]

pfam08154
Location:4 → 70

NLE; NLE (NUC135) domain