LRGUK (leucine rich repeats and guanylate kinase domain containing)

2014-11-01  

Identity

HGNC
LRGUK
LOCATION
7q33
LOCUSID
136332
ALIAS
CFAP246
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 136332
MIM: 616478
HGNC: 21964
Ensembl: ENSG00000155530

Variants:

dbSNP: 136332
ClinVar: 136332
TCGA: ENSG00000155530
COSMIC: LRGUK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155530ENST00000285928Q96M69
ENSG00000155530ENST00000645682A0A2R8YEJ5

Expression (GTEx)

0
5
10
15
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
N/A

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
257811712015LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility.12
184986602008Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study.9
312012732019Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer.0

Citation

Dessen P

LRGUK (leucine rich repeats and guanylate kinase domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68581/lrguk