PITX3

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.^[4][5]

PITX3
Identifiers
Aliases	PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
External IDs	OMIM: 602669; MGI: 1100498; HomoloGene: 3689; GeneCards: PITX3; OMA:PITX3 - orthologs
Gene location (Mouse) Chr. Chromosome 19 (mouse)[1] Band 19 C3|19 38.75 cM Start 46,124,124 bp[1] End 46,136,765 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle skeletal muscle tissue ventricle of the heart left ventricle Mesencephalon substantia nigra face sensory nervous system sensory organ kidney Top expressed in lens muscle of thigh embryo lip female urethra male urethra lens placode temporal muscle embryo internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus soma Biological process animal organ morphogenesis positive regulation of transcription, DNA-templated multicellular organism development dopaminergic neuron differentiation regulation of gene expression neuron development lens development in camera-type eye regulation of transcription, DNA-templated lens fiber cell differentiation lens morphogenesis in camera-type eye transcription by RNA polymerase II locomotory behavior midbrain development positive regulation of transcription by RNA polymerase II transcription, DNA-templated ageing negative regulation of gliogenesis response to immobilization stress response to cocaine response to morphine positive regulation of neuron apoptotic process negative regulation of neurogenesis response to methamphetamine hydrochloride positive regulation of cell proliferation in midbrain cellular response to glial cell derived neurotrophic factor anatomical structure morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5309 18742 Ensembl n/a ENSMUSG00000025229 UniProt O75364 O35160 RefSeq (mRNA) NM_005029 NM_008852 RefSeq (protein) NP_005020 NP_032878 Location (UCSC) n/a Chr 19: 46.12 – 46.14 Mb PubMed search [2] [3]
Wikidata
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Function

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,^[5] and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.^[6]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.^[5]