PITX3 (paired like homeodomain 3)

2016-12-01  

Identity

HGNC
PITX3
LOCATION
10q24.32
LOCUSID
5309
ALIAS
ASGD1,ASMD,ASOD,CTPP4,CTRCT11,PTX3

Other Information

Locus ID:

NCBI: 5309
MIM: 602669
HGNC: 9006
Ensembl: ENSG00000107859

Variants:

dbSNP: 5309
ClinVar: 5309
TCGA: ENSG00000107859
COSMIC: PITX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107859ENST00000370002O75364
ENSG00000107859ENST00000539804O75364

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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

References

Pubmed IDYearTitleCitations
343450292022Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.3
343450292022Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.3
313103882020Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells.3
313103882020Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells.3
308165392019PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.4
308941342019A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.5
308165392019PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population.4
308941342019A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.5
294057832018Identification of PITX3 mutations in individuals with various ocular developmental defects.10
294057832018Identification of PITX3 mutations in individuals with various ocular developmental defects.10
271457932017Genetic analysis of PITX3 variants in patients with essential tremor.6
281746072017PITX3 DNA methylation is an independent predictor of overall survival in patients with head and neck squamous cell carcinoma.10
282499242017Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.8
289916982017PITX3 genotype and risk of dementia in Parkinson's disease: A population-based study.5
271457932017Genetic analysis of PITX3 variants in patients with essential tremor.6

Citation

Dessen P

PITX3 (paired like homeodomain 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56649