PITX3 - paired like homeodomain 3 Gene

Also Known as ASMD; ASOD; PTX3; ASGD1; CTPP4; CTRCT11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5309

About PITX3

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,230,189-102,241,512 (from NCBI)

This gene has 2 transcripts (splice variants), 91 orthologues, 50 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

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 gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]

PITX3 Products (1)

mRNA	Protein	Name
NM_005029.4	NP_005020.1	pituitary homeobox 3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PITX3 Protein Structure

Homeobox

OAR

0
100
200
302 a.a.

Protein Preferred Names	Protein Names
pituitary homeobox 3	homeobox protein PITX3

PITX3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83229	PITX3 Antibody (YA2974)	WB, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Cataract 11, Multiple Types	Cataract, Posterior Polar, 4 Ctpp4 Cpp4 Cataract 11 Multiple Types CTRCT11 Cataract 11, Syndromic, Autosomal Recessive Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities Posterior Polar Cataract 4 Posterior Polar Cataract, 4 Cataract Posterior Polar 4 Syndromic Cataract 11 Cataract, Type 11, Multiple Types
Anterior Segment Dysgenesis 1	Anterior Segment Mesenchymal Dysgenesis Anterior Segment Dysgenesis 1, Multiple Subtypes ASGD1 Asmd Anterior Segment Ocular Dysgenesis Asod Familial Ocular Anterior Segment Mesenchymal Dysgenesis Ocular Anterior Segment Dysgenesis Dysgenesis, Anterior Segment, Type 1 Axenfeld-Rieger Syndrome, Type 3 Irido-Corneal Dysgenesis
Cataract-Glaucoma	Cataract-Glaucoma Syndrome
Early-Onset Posterior Polar Cataract
Posterior Polar Cataract	Cataract, Posterior Polar
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Axenfeld-Rieger Syndrome, Type 1	Axenfeld-Rieger Syndrome Type 1 RIEG1 Rieg Rgs Rieger Syndrome Type 1 Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome 1 Iridogoniodysgenesis With Somatic Anomalies
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Axenfeld-Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome Type 3 RIEG3 Anterior Chamber Cleavage Syndrome Anterior Segment Mesenchymal Dysgenesis Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss Rieger Syndrome Type 3 Axenfeld-Rieger Anomaly Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome 3 Axenfeld Anomaly Rieger Anomaly Rieger Syndrome Rieger Eye Malformation Sequence
Corneal Staphyloma	Staphyloma Of Cornea Congenital Staphyloma
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	MRD55 Mental Retardation, Autosomal Dominant 55, With Seizures Autosomal Dominant Mental Retardation 55 Autosomal Dominant Intellectual Developmental Disorder 55 Autosomal Dominant Intellectual Developmental Disorder-55 With Seizures Mental Retardation, Autosomal Dominant, Type 55, With Seizures
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Nance-Horan Syndrome	NHS Cataract-Dental Syndrome Cataract, X-Linked, With Hutchinsonian Teeth Mesiodens-Cataract Syndrome Cataract X-Linked With Hutchinsonian Teeth Cataract Dental Syndrome Mesiodens Cataract Syndrome
Sclerocornea	Isolated Congenital Sclerocornea
Iris Disease	Iris Diseases
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Deprivation Amblyopia	Disuse Amblyopia Stimulus Deprivation Amblyopia
Ayme-Gripp Syndrome	AYGRP Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation Aymé-Gripp Syndrome Fine-Lubinsky Syndrome Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Lens Disease	Lens Diseases
Brain Small Vessel Disease
Glaucoma 3, Primary Congenital, A	Buphthalmos Glaucoma, Congenital Congenital Glaucoma Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset GLC3A Glc3 Buphthalmia Primary Congenital Glaucoma Glaucoma, Primary Open Angle, Juvenile-Onset Simple Buphthalmos Buphthalmus Glaucoma, Primary Open Angle, Adult-Onset Primary Congenital Glaucoma 3a Primary Infantile Glaucoma Type 3a Glaucoma 3a, Primary Congenital Glaucoma, Congenital, Primary, Type 3a Hydrophthalmos Cystic Eyeball
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Amblyopia	Lazy Eye
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10583	PITX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PITX3	MGD	MGI:1100498
Macaca mulatta	PITX3	VGNC	VGNC:106087
Canis familiaris	PITX3	VGNC	VGNC:44591
Bos taurus	PITX3	VGNC	VGNC:32926
Rattus norvegicus	PITX3	RGD	RGD:3332
Others	PITX3	NCBI