LCT (lactase)

2007-12-01  

Identity

HGNC
LCT
LOCATION
2q21.3
LOCUSID
3938
ALIAS
LAC,LPH,LPH1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3938
MIM: 603202
HGNC: 6530
Ensembl: ENSG00000115850

Variants:

dbSNP: 3938
ClinVar: 3938
TCGA: ENSG00000115850
COSMIC: LCT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115850ENST00000264162P09848
ENSG00000115850ENST00000452974H0Y4E4

Expression (GTEx)

0
1
2
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

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
Galactose metabolismKEGGhsa00052
Metabolic pathwaysKEGGhsa01100
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085

References

Pubmed IDYearTitleCitations
382539292024Variant of the lactase LCT gene explains association between milk intake and incident type 2 diabetes.1
382539292024Variant of the lactase LCT gene explains association between milk intake and incident type 2 diabetes.1
366043672023Milk intake, lactase persistence genotype, plasma proteins and risks of cardiovascular events in the Swedish general population.2
366954172023DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population.0
373549762023Association of Estimated Daily Lactose Consumption, Lactase Persistence Genotype (rs4988235), and Gut Microbiota in Healthy Adults in the United States.0
366043672023Milk intake, lactase persistence genotype, plasma proteins and risks of cardiovascular events in the Swedish general population.2
366954172023DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population.0
373549762023Association of Estimated Daily Lactose Consumption, Lactase Persistence Genotype (rs4988235), and Gut Microbiota in Healthy Adults in the United States.0
350077112022Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.1
351156892022Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.118
351156902022Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project.95
361298082022Very low frequency of the lactase persistence allele LCT-13910T in the Armenian population.0
363348822022Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities.0
350077112022Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.1
351156892022Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.118

Citation

Dessen P

LCT (lactase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49871/js/js/humanGenome