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WDR5B WD repeat domain 5B [ Homo sapiens (human) ]

Gene ID: 54554, updated on 5-Mar-2024

Summary

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Official Symbol
WDR5Bprovided by HGNC
Official Full Name
WD repeat domain 5Bprovided by HGNC
Primary source
HGNC:HGNC:17826
See related
Ensembl:ENSG00000196981 AllianceGenome:HGNC:17826
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
Summary
This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

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Location:
3q21.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (122411846..122416062, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (125131401..125135617, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122130693..122134909, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cystatin A Neighboring gene MPRA-validated peak4796 silencer Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene mitochondrial matrix import factor 23 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:122102840-122103340 Neighboring gene family with sequence similarity 162 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20369 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122134889-122135706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:122135707-122136522 Neighboring gene WDR5B divergent transcript Neighboring gene karyopherin subunit alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20374 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:122215008-122216207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14641 Neighboring gene uncharacterized LOC107984000

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Extensive gene order differences within regions of conserved synteny between the Fugu and human genomes: implications for chromosomal evolution and the cloning of disease genes. Gilley J, et al. Hum Mol Genet, 1999 Jul. PMID 10369878
  2. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. O'Seaghdha CM, et al. Hum Mol Genet, 2010 Nov 1. PMID 20705733, Free PMC Article
  3. CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation. Higa LA, et al. Nat Cell Biol, 2006 Nov. PMID 17041588
  4. Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity. Usenovic M, et al. Hum Mol Genet, 2012 Sep 1. PMID 22645275, Free PMC Article
  5. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11287, MGC49879

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of Set1C/COMPASS complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
WD repeat-containing protein 5B

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)

  1. NM_019069.4 → NP_061942.2  WD repeat-containing protein 5B

    See identical proteins and their annotated locations for NP_061942.2

    Status: REVIEWED

    Source sequence(s)
    AA310178, AA587370, AC083798, BC025762, BC043494, BU678251
    Consensus CDS
    CCDS3012.1
    UniProtKB/Swiss-Prot
    B2RCM9, Q86VZ2, Q9NUL4
    Related
    ENSP00000330381.4, ENST00000330689.6
    Conserved Domains (2) summary
    cd00200
    Location:33 → 326
    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:44 → 81
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    122411846..122416062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    125131401..125135617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86VZ2.1 GenPept UniProtKB/Swiss-Prot:Q86VZ2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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