WDR36 (WD repeat domain 36)

2014-11-01 Affiliation

Identity

HGNC

WDR36

LOCATION

5q22.1

LOCUSID

134430

ALIAS

GLC1G,TA-WDRP,TAWDRP,UTP21

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: 134430
MIM: 609669
HGNC: 30696
Ensembl: ENSG00000134987

Variants:

dbSNP: 134430
ClinVar: 134430
TCGA: ENSG00000134987
COSMIC: WDR36

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134987	ENST00000506538	Q8NI36
ENSG00000134987	ENST00000513710	A0A0A0MTB8
ENSG00000134987	ENST00000612402	Q8NI36

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

Pathways

Pathway	Source	External ID
Ribosome biogenesis in eukaryotes	KEGG	ko03008
Ribosome biogenesis in eukaryotes	KEGG	hsa03008
Gene Expression	REACTOME	R-HSA-74160
rRNA processing	REACTOME	R-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosol	REACTOME	R-HSA-6791226
rRNA modification in the nucleus and cytosol	REACTOME	R-HSA-6790901
rRNA processing in the nucleus and cytosol	REACTOME	R-HSA-8868773

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
34681019	2021	WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.	2
34681019	2021	WDR36-Associated Neurodegeneration: A Case Report Highlights Possible Mechanisms of Normal Tension Glaucoma.	2
28282485	2017	Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.	8
28658128	2017	Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.	4
29104481	2017	An Application of NGS for WDR36 Gene in Taiwanese Patients with Juvenile-Onset Open-Angle Glaucoma.	2
28282485	2017	Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.	8
28658128	2017	Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.	4
29104481	2017	An Application of NGS for WDR36 Gene in Taiwanese Patients with Juvenile-Onset Open-Angle Glaucoma.	2
26497787	2015	Advances in glaucoma genetics.	9
26497787	2015	Advances in glaucoma genetics.	9
25711070	2014	[Genetic studies of primary open-angle glaucoma].	1
25711070	2014	[Genetic studies of primary open-angle glaucoma].	1
20813748	2011	Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAG.	9
21931130	2011	WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.	15
21940795	2011	WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, Gαq and phospholipase Cβ in a signalling complex.	14

Citation

Dessen P

WDR36 (WD repeat domain 36)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75709