PITX2 (paired like homeodomain 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5308
Gene name Gene Name - the full gene name approved by the HGNC.
Paired like homeodomain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PITX2
Synonyms (NCBI Gene) Gene synonyms aliases
ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
SNP ID Visualize variation Clinical significance Consequence
rs6533526 G>A Benign, pathogenic 3 prime UTR variant
rs104893857 A>T Pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs104893858 T>C,G Pathogenic Missense variant, coding sequence variant
rs104893859 C>G,T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs104893860 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT555582 hsa-miR-494-3p PAR-CLIP 21572407
MIRT555581 hsa-miR-374b-5p PAR-CLIP 21572407
MIRT555580 hsa-miR-374a-5p PAR-CLIP 21572407
MIRT555579 hsa-miR-377-3p PAR-CLIP 21572407
MIRT555577 hsa-miR-4517 PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(99)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19174163
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 9685346, 12612071
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601542 9005 ENSG00000164093
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q99697
Protein name Pituitary homeobox 2 (ALL1-responsive protein ARP1) (Homeobox protein PITX2) (Paired-like homeodomain transcription factor 2) (RIEG bicoid-related homeobox transcription factor) (Solurshin)
Protein function May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mR
PDB 2L7F , 2L7M , 2LKX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 86 → 142 Homeodomain Domain
PF03826 OAR 275 → 292 OAR motif Motif
Sequence 
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGA
NEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAV
WTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWA
AKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLN
SLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
NPASNLSACQYAVDRPV
Sequence length 317
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  TGF-beta signaling pathway   TFAP2 (AP-2) family regulates transcription of other transcription factors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anterior segment dysgenesis Anterior segment dysgenesis 4 rs121909248, rs104893861 N/A
Axenfeld anomaly Axenfeld-Rieger syndrome type 1 rs772800095, rs121909249, rs1728998905, rs104893857, rs1560590094, rs104893862, rs104893858, rs387906810, rs1198152064, rs1057519489, rs104893859, rs1057519488, rs104893860, rs1057519487, rs1057519483
View all (2 more)		 N/A
Anterior Pituitary Dysgenesis anterior segment dysgenesis 4, peters anomaly subtype rs1553922583 N/A
anterior segment dysgenesis Anterior segment dysgenesis rs104893862, rs121909248 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cardioembolic Stroke Cardioembolic stroke N/A N/A GWAS
Cataract cataract N/A N/A ClinVar
Congestive Heart Failure Congestive heart failure N/A N/A GWAS
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37679021
Abortion Spontaneous Associate 27009473
Adenocarcinoma of Lung Associate 31731374, 32802839
Adenocarcinoma of Lung Stimulate 33530195
Adenoma Associate 31280266
Amelogenesis imperfecta local hypoplastic form Associate 35882526
Aniridia Associate 21617748, 27124303
Aniridia cerebellar ataxia mental deficiency Associate 27124303
Anodontia Associate 23549991, 35882526, 36017684, 38157055
Anophthalmia with pulmonary hypoplasia Associate 37337632