Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5309
Gene name	Paired like homeodomain 3
Gene symbol	PITX3
Synonyms (NCBI Gene)	ASGD1ASMDASODCTPP4CTRCT11PTX3
Chromosome	10
Chromosome location	10q24.32
Summary	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

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

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002354	hsa-miR-133b	FACSLuciferase reporter assay	17761882
MIRT002354	hsa-miR-133b	FACSLuciferase 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
MIRT512882	hsa-miR-8063	PAR-CLIP	23446348
MIRT512881	hsa-miR-4698	PAR-CLIP	23446348
MIRT512880	hsa-miR-3180	PAR-CLIP	23446348
MIRT512879	hsa-miR-3180-3p	PAR-CLIP	23446348
MIRT512878	hsa-miR-3196	PAR-CLIP	23446348
MIRT512877	hsa-miR-6816-5p	PAR-CLIP	23446348
MIRT512885	hsa-miR-3662	PAR-CLIP	23446348
MIRT512884	hsa-miR-4676-5p	PAR-CLIP	23446348
MIRT512883	hsa-miR-575	PAR-CLIP	23446348
MIRT512882	hsa-miR-8063	PAR-CLIP	23446348
MIRT512881	hsa-miR-4698	PAR-CLIP	23446348
MIRT512880	hsa-miR-3180	PAR-CLIP	23446348
MIRT512879	hsa-miR-3180-3p	PAR-CLIP	23446348
MIRT512878	hsa-miR-3196	PAR-CLIP	23446348
MIRT512877	hsa-miR-6816-5p	PAR-CLIP	23446348

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0002088	Process	Lens development in camera-type eye	ISS
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007626	Process	Locomotory behavior	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009887	Process	Animal organ morphogenesis	TAS	9620774
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014014	Process	Negative regulation of gliogenesis	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0030901	Process	Midbrain development	ISS
GO:0035902	Process	Response to immobilization stress	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048666	Process	Neuron development	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0070306	Process	Lens fiber cell differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:1904313	Process	Response to methamphetamine hydrochloride	IEA
GO:1904935	Process	Positive regulation of cell proliferation in midbrain	IEA
GO:1990792	Process	Cellular response to glial cell derived neurotrophic factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602669	9006	ENSG00000107859

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

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anterior segment dysgenesis 1	Pathogenic; Likely pathogenic	rs1411557416	RCV005869604 RCV004787888
ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES	Pathogenic	rs1411557416	RCV002294347
Cataract 11 multiple types	Likely pathogenic; Pathogenic	rs104894175, rs1411557416	RCV000007351 RCV003333078 RCV004559169
Cataract 11, posterior polar	Pathogenic	rs1564991256, rs1411557416	RCV000043531 RCV002294346
Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities	Pathogenic	rs1564991256	RCV000043534
Developmental cataract	Likely pathogenic	rs2133794292	RCV001775012
PITX3-related disorder	Pathogenic; Likely pathogenic	rs1411557416, rs1564991147	RCV004755963 RCV004731029

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Corneal Opacity	Associate	15665340
Death	Associate	28174607
Eye Abnormalities	Associate	15912477, 21836522
Fistula	Associate	36153513
Hydrophthalmos	Associate	36153513
Intellectual Disability	Associate	20376326
Microphthalmos	Associate	21836522, 36153513
Multiple Pterygium Syndrome Autosomal Dominant	Associate	24555714
Neoplasms	Associate	28174607
Parkinson Disease	Associate	22411443
Peters anomaly	Associate	35170016, 36153513
Prostatic Neoplasms	Associate	27708722
Squamous Cell Carcinoma of Head and Neck	Associate	28174607
Vision Disorders	Associate	18989383

PITX3 (paired like homeodomain 3)