PITX3 (paired like homeodomain 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5309
Gene name Gene Name - the full gene name approved by the HGNC.
Paired like homeodomain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PITX3
Synonyms (NCBI Gene) Gene synonyms aliases
ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.32
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. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this ge
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs104894175 C>T Pathogenic Missense variant, coding sequence variant
rs1057518058 G>A Likely-pathogenic Stop gained, coding sequence variant
rs1411557416 CAGGGCCCCAGGCCCTG>-,CAGGGCCCCAGGCCCTGCAGGGCCCCAGGCCCTG Uncertain-significance, pathogenic Coding sequence variant, frameshift variant
rs1564991147 G>T Likely-pathogenic Stop gained, coding sequence variant
rs1564991256 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT002354 hsa-miR-133b FACS, Luciferase reporter assay 17761882
MIRT002354 hsa-miR-133b FACS, Luciferase reporter assay 17761882
MIRT512885 hsa-miR-3662 PAR-CLIP 23446348
MIRT512884 hsa-miR-4676-5p PAR-CLIP 23446348
MIRT512883 hsa-miR-575 PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific 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 Associated diseases
MIM HGNC e!Ensembl
602669 9006 ENSG00000107859
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75364
Protein name Pituitary homeobox 3 (Homeobox protein PITX3) (Paired-like homeodomain transcription factor 3)
Protein function Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term surviv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 63 → 119 Homeodomain Domain
PF03826 OAR 258 → 275 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Highly expressed in developing eye lens.
Sequence 
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKK
KQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKR
ERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKALAPPLAAKTFPFAFNSVNVG
PLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA
SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVER
PV
Sequence length 302
Interactions View interactions
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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 Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 11 multiple types rs104894175, rs1411557416 N/A
Segment dysgenesis anterior segment dysgenesis 1 rs1411557416 N/A
Show/Hide Unknown Diseases (1)
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
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33530195, 37796202
Anterior segment mesenchymal dysgenesis Associate 15665340, 18989383, 20376326, 21836522, 24555714, 36153513
Blindness Associate 18989383
Breast Neoplasms Associate 19153192
Carcinoma Ductal Breast Associate 19153192
Cataract Associate 16636655, 18989383, 20376326, 24555714, 30816539, 30894134, 33923544, 34345029, 36153513, 36161833
Cataract anterior polar dominant Associate 18989383
Cataract Autosomal Dominant Associate 24555714, 30816539, 34345029
Central Nervous System Vascular Malformations Associate 20376326
Corneal Diseases Associate 36153513