WDR11 WD repeat domain 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WDR11provided by HGNC
Official Full Name: WD repeat domain 11provided by HGNC
Primary source: HGNC:HGNC:13831
See related: Ensembl:ENSG00000120008 MIM:606417; AllianceGenome:HGNC:13831
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: DR11; HH14; SRI1; BRWD2; WDR15
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 gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 17.7), appendix (RPKM 14.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.12

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (120851362..120909524)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (121747910..121806084)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (122610874..122669036)

Chromosome 10 - NC_000010.11 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: 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?

Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.
Title: Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Title: Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Our study reveals a novel class of ciliopathy caused by WDR11 mutations and suggests that CHH/KS may be a part of the human ciliopathy spectrum.
Title: WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Data indicate a functional link between adaptor protein complex 1 (AP-1) and the WD repeat protein 11 (WDR11) complex.
Title: The WDR11 complex facilitates the tethering of AP-1-derived vesicles.
WDR11 genetic mutation is responsible for the pathophysiology of pituitary stalk interruption syndrome.
Title: Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.
Title: Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome, causing impaired pubertal development.
Title: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Data show that the HTPAPL-WDR11-FGFR2 locus was more susceptible to recombination than to nucleotide substitution.
Title: Recombination cluster around FGFR2-WDR11-HTPAPL locus on human chromosome 10q26.
This gene is expressed on chromosome 10p26.
Title: FGFR2 and WDR11 are neighboring oncogene and tumor suppressor gene on human chromosome 10q26.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Hypogonadotropic hypogonadism 14 with or without anosmia MedGen: C3540450 OMIM: 614858 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Intellectual developmental disorder, autosomal recessive 78 MedGen: C5830269 OMIM: 620237 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

D11S2921 (e-PCR)
- UniSTS:152074

RH44312 (e-PCR)
- UniSTS:25652

RH81052 (e-PCR)
- UniSTS:86162

SHGC-36304 (e-PCR)
- UniSTS:24236

SHGC-78627 (e-PCR)
- UniSTS:102083

STS-R08557 (e-PCR)
- UniSTS:39875

SHGC-64316 (e-PCR)
- UniSTS:63941

STS-H54750 (e-PCR)
- UniSTS:52946

SHGC-36479 (e-PCR)
- UniSTS:25558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in head development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle tethering to Golgi	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: WD repeat-containing protein 11

Names: WD repeat domain 15; WD repeat-containing protein 15; bromodomain and WD repeat-containing protein 2; sensitization to ricin complex subunit 1

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_023290.1 RefSeqGene

Range

5188..63350

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018117.12 → NP_060587.8 WD repeat-containing protein 11

See identical proteins and their annotated locations for NP_060587.8

Status: REVIEWED

Source sequence(s)

BC071564, DC342128

Consensus CDS

CCDS7619.1

UniProtKB/Swiss-Prot

Q5VWA1, Q9BZH6, Q9P2J6

UniProtKB/TrEMBL

B2RCJ6

Related

ENSP00000263461.5, ENST00000263461.11

Conserved Domains (3) summary

COG2319
Location:475 → 833

WD40; WD40 repeat [General function prediction only]

sd00039
Location:714 → 747

7WD40; WD40 repeat [structural motif]

cl25539
Location:54 → 179

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 ...

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

120851362..120909524

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005269963.3 → XP_005270020.1 WD repeat-containing protein 11 isoform X1

See identical proteins and their annotated locations for XP_005270020.1

UniProtKB/TrEMBL

Q9NVU3

Conserved Domains (3) summary

COG2319
Location:216 → 574

WD40; WD40 repeat [General function prediction only]

sd00039
Location:455 → 488

7WD40; WD40 repeat [structural motif]

cl02567
Location:226 → 561

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 ...
XM_047425458.1 → XP_047281414.1 WD repeat-containing protein 11 isoform X1
XM_047425459.1 → XP_047281415.1 WD repeat-containing protein 11 isoform X1