WDR11 (WD repeat domain 11)

2010-01-01 Affiliation

Identity

HGNC

WDR11

LOCATION

10q26.12

LOCUSID

55717

ALIAS

BRWD2,DR11,HH14,SRI1,WDR15

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55717
MIM: 606417
HGNC: 13831
Ensembl: ENSG00000120008

Variants:

dbSNP: 55717
ClinVar: 55717
TCGA: ENSG00000120008
COSMIC: WDR11

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120008	ENST00000263461	Q9BZH6
ENSG00000120008	ENST00000497136	S4R3P9
ENSG00000120008	ENST00000604585	S4R3Z0
ENSG00000120008	ENST00000605543	S4R451

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37308106	2023	Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.	4
37308106	2023	Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations.	4
34413497	2021	Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.	6
34413497	2021	Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.	6
29263200	2018	WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.	31
29426865	2018	The WDR11 complex facilitates the tethering of AP-1-derived vesicles.	20
29263200	2018	WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.	31
29426865	2018	The WDR11 complex facilitates the tethering of AP-1-derived vesicles.	20
28453858	2017	Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.	20
28453858	2017	Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.	20
26178983	2015	Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.	8
26178983	2015	Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at the trans-Golgi Network To Promote Virus Replication.	8
20887964	2010	WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.	76
20887964	2010	WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.	76
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	83

Citation

Dessen P

WDR11 (WD repeat domain 11)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51278/wdr11-(wd-repeat-domain-11)