Pitx3
Gene Detail

Symbol Name ID

Pitx3 paired-like homeodomain transcription factor 3 MGI:1100498

Synonyms

Ptx3

Feature Type

protein coding gene

Genetic Map

Chromosome 19

38.75 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr19:46135685-46148375 bp, - strand From VEGA annotation of GRCm38   12691 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3689  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

Protein SuperFamily: homeobox protein, Pitx/Unc30 types
Gene Tree: Pitx3

Human homologs

Human Homolog		PITX3, paired-like homeodomain 3
NCBI Gene ID		5309
neXtProt AC		NX_O75364
Human Synonyms		CTPP4, CTRCT11, PTX3
Human Chr (Location)		10q24.32; chr10:103989946-104001231 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human PITX3

Alleles and phenotypes

All alleles(9) : Targeted(7) Spontaneous(2)
 

Homozygotes for a spontaneous null mutation exhibit eye defects related to impaired lens formation, slightly reduced body weight, and decreased breeding ability (especially in females). Mutants fail to develop dopaminergic neurons of the substantia nigra.

 
Human Diseases Modeled Using Mouse Pitx3 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	dopaminergic neuron differentiation, lens development in camera-type eye, ...
Component	nucleus
Function	DNA binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (71 records)
Data Summary: Results (200)    Tissues (141)    Images (51)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	154
In situ reporter (knock in)	26
RT-PCR	20

cDNA source data(8)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(32) Genomic(13) cDNA(10) Primer pair(8) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021234 (Evidence)
Ensembl Gene Model	ENSMUSG00000025229 (Evidence)
Entrez Gene	18742 (Evidence)
UniGene	6255
DFCI	TC1592550
NIA Mouse Gene Index	U039102
Consensus CDS Project	CCDS29872.1
International Mouse Knockout Project Status	Pitx3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021234	VEGA Gene Model | MGI Sequence Detail	12691	C57BL/6J
transcript	OTTMUST00000050294	VEGA | MGI Sequence Detail	1429	Not Applicable
polypeptide	OTTMUSP00000023460	VEGA | MGI Sequence Detail	302	Not Applicable

All sequences(24) RefSeq(2) UniProt(2)

Polymorphisms

All PCR and RFLP(5) : PCR(4) RFLP(1) SNPs(35 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR016233	Homeobox protein Pitx/unc30
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
InterPro	IPR003654	OAR domain
Protein Ontology	PR:000012761	pituitary homeobox 3

References

(Earliest) J:5084 Varnum DS, et al., Aphakia, a new mutation in the mouse. J Hered. 1968 Mar-Apr;59(2):147-50
(Latest) J:190436 Chakrabarty K, et al., Genome wide expression profiling of the mesodiencephalic region identifies novel factors involved in early and late dopaminergic development. Biol Open. 2012 Aug 15;1(8):693-704
All references(140)

Other accession IDs

MGD-MRK-1239, MGI:87976