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

Gene ID: 55759, updated on 13-Mar-2020

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
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

Genomic context

See WDR12 in Genome Data Viewer
Location:
2q33.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (202874261..202911673, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (203745323..203776949, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class Y pseudogene Neighboring gene islet cell autoantigen 1 like Neighboring gene keratin 8 pseudogene 15 Neighboring gene calcium responsive transcription factor Neighboring gene keratin 8 pseudogene 52 Neighboring gene chromosome 18 open reading frame 32 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10881, FLJ12719, FLJ12720

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
maturation of 5.8S rRNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
Inferred from Mutant Phenotype
more info
PubMed 
maturation of LSU-rRNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
Inferred from Mutant Phenotype
more info
PubMed 
rRNA processing TAS
Traceable Author Statement
more info
 
regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
ribosomal large subunit biogenesis IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
PeBoW complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PeBoW complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
preribosome, large subunit precursor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
preribosome, large subunit precursor IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ribosome biogenesis protein WDR12
Names
WD repeat-containing protein 12

NCBI Reference Sequences (RefSeq)

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

    Status: REVIEWED

    Source sequence(s)
    AC010900
  2. NM_018256.4NP_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
    Q9GZL7
    UniProtKB/TrEMBL
    Q53T99
    Related
    ENSP00000261015.3, ENST00000261015.4
    Conserved Domains (3) summary
    cd00200
    Location:100409
    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:193255
    7WD40; WD40 repeat [structural motif]
    pfam08154
    Location:470
    NLE; NLE (NUC135) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    202874261..202911673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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