PITX3 (paired like homeodomain 3)

2016-12-01  

Identity

HGNC
LOCATION
10q24.32
LOCUSID
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

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
164770362006Cooperative transcription activation by Nurr1 and Pitx3 induces embryonic stem cell maturation to the midbrain dopamine neuron phenotype.59
179054802009The transcription factor PITX3 is associated with sporadic Parkinson's disease.31
179054802009The transcription factor PITX3 is associated with sporadic Parkinson's disease.31
152861692004Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).28
165653582006Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.26
119942262002Androgen receptor CAG repeats and prostate cancer.24
166366552006The PITX3 gene in posterior polar congenital cataract in Australia.20
184203082010PITX3 polymorphism is associated with early onset Parkinson's disease.20
184203082010PITX3 polymorphism is associated with early onset Parkinson's disease.20

Citation

Dessen P

PITX3 (paired like homeodomain 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56649/pitx3