LZTR1 (leucine zipper like transcription regulator 1)

2018-07-01  

Identity

HGNC
LZTR1
LOCATION
22q11.21
LOCUSID
8216
ALIAS
BTBD29,LZTR-1,NS10,NS2,SWNTS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8216
MIM: 600574
HGNC: 6742
Ensembl: ENSG00000099949

Variants:

dbSNP: 8216
ClinVar: 8216
TCGA: ENSG00000099949
COSMIC: LZTR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099949ENST00000414985F8WB67
ENSG00000099949ENST00000415354F8WEQ8
ENSG00000099949ENST00000415817H7C0X1
ENSG00000099949ENST00000439171H7BZQ9
ENSG00000099949ENST00000443265F8WCB6
ENSG00000099949ENST00000452988H7C305
ENSG00000099949ENST00000497716A0A2R8Y4K9
ENSG00000099949ENST00000642151A0A2R8Y656
ENSG00000099949ENST00000644435A0A2R8Y7K3
ENSG00000099949ENST00000645935A0A2R8YCD2
ENSG00000099949ENST00000646124Q8N653
ENSG00000099949ENST00000646124A0A384NL67

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364452542023LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.3
375091532023Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.0
375920232023Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.7
379365552023Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.0
364452542023LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.3
375091532023Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.0
375920232023Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.7
379365552023Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.0
351145662022The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells.5
358409342022LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.4
351145662022The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells.5
358409342022LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.4
325766562021Sporadic vestibular schwannoma: a molecular testing summary.4
334073642021A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.4
341848242021Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.6

Citation

Dessen P

LZTR1 (leucine zipper like transcription regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57519