PITX2 (paired like homeodomain 2)

2003-05-01  

Identity

HGNC
PITX2
LOCATION
4q25
LOCUSID
5308
ALIAS
ARP1,ASGD4,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,Otlx2,PTX2,RGS,RIEG,RIEG1,RS
FUSION GENES
Show Gene Fusions

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
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
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
384190622024Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology.0
385927842024Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.0
387104032024PITX2 functions as a transcription factor for GPX4 and protects pancreatic cancer cells from ferroptosis.0
384190622024Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology.0
385927842024Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.0
387104032024PITX2 functions as a transcription factor for GPX4 and protects pancreatic cancer cells from ferroptosis.0
358363512023Enamel defects of Axenfeld-Rieger syndrome and the role of PITX2 in its pathogenesis.2
364426802023Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.3
367639062023PITX2 Knockout Induces Key Findings of Electrical Remodeling as Seen in Persistent Atrial Fibrillation.6
368565942023Association Between rs2200733 Polymorphism of PITX2 Gene and the Risk of Atrial Fibrillation.0
368682292023PITX2 induction leads to impaired cardiomyocyte function in arrhythmogenic cardiomyopathy.0
374953232023Pulmonary Vein Myocardial Sleeve Length and its Association With Sex and 4q25/PITX2 Genotype.0
358363512023Enamel defects of Axenfeld-Rieger syndrome and the role of PITX2 in its pathogenesis.2
364426802023Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.3
367639062023PITX2 Knockout Induces Key Findings of Electrical Remodeling as Seen in Persistent Atrial Fibrillation.6

Citation

Dessen P

PITX2 (paired like homeodomain 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

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