PITX2 (paired like homeodomain 2)

2003-05-01  

Identity

HGNC
LOCATION
4q25
LOCUSID
ALIAS
ARP1,ASGD4,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,Otlx2,PTX2,RGS,RIEG,RIEG1,RS
FUSION GENES

Other Information

Locus ID:

NCBI: 5308
MIM: 601542
HGNC: 9005
Ensembl: ENSG00000164093

Variants:

dbSNP: 5308
ClinVar: 5308
TCGA: ENSG00000164093
COSMIC: PITX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164093ENST00000354925Q99697
ENSG00000164093ENST00000355080Q99697
ENSG00000164093ENST00000394595Q99697
ENSG00000164093ENST00000511837D6RFI4
ENSG00000164093ENST00000511990D6RBG8
ENSG00000164093ENST00000557119U3KQ81
ENSG00000164093ENST00000613094Q99697
ENSG00000164093ENST00000614423Q99697
ENSG00000164093ENST00000616641Q99697
ENSG00000164093ENST00000644743Q99697

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsREACTOMER-HSA-8864260
TFAP2 (AP-2) family regulates transcription of other transcription factorsREACTOMER-HSA-8866906

References

Pubmed IDYearTitleCitations
176034722007Variants conferring risk of atrial fibrillation on chromosome 4q25.310
230426602012Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations.97
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
117740722002Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.95
212823322011PITX2c is expressed in the adult left atrium, and reducing Pitx2c expression promotes atrial fibrillation inducibility and complex changes in gene expression.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
195130952009Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.71
201708122010Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation.70
215118792011PITX2 insufficiency leads to atrial electrical and structural remodeling linked to arrhythmogenesis.67
157282542005PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter.59

Citation

Dessen P

PITX2 (paired like homeodomain 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/402/pitx2