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Pitx2
Gene Detail
 Symbol
Name
ID
Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
Synonyms Brx1, Brx1a, Brx1b, Munc30, Otlx2, Pitx2a, Pitx2b, Pitx2c, Ptx2, Rieg, solurshin
Feature Type protein coding gene
Genetic Map
Chromosome 3
57.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr3:129199878-129219591 bp, + strand
From VEGA annotation of GRCm38

  19714 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55454  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: homeobox protein, Pitx/Unc30 types
Gene Tree: Pitx2

Human
homologs
Human Homolog PITX2, paired-like homeodomain 2
NCBI Gene ID 5308
neXtProt AC  NX_Q99697
Human Synonyms  ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
Human Chr (Location)  4q25; chr4:110617423-110642123 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human PITX2
Alleles
and
phenotypes
All alleles(18) : Targeted(18)
 
Homozygotes for targeted mutations show failed ventral body wall closure, right pulmonary isomerism, septal and valve defects, absent ocular muscles, arrested pituitary and tooth development, optic nerve, mandible and maxilla defects, and embryonic death.
 
Human Diseases Modeled Using Mouse Pitx2 (1)    Alleles Annotated to Human Diseases(6)   
Gene Ontology
(GO)
classifications
All GO classifications: (103 annotations)
Process anatomical structure morphogenesis, atrial cardiac muscle tissue morphogenesis, ...
Component cytoplasm, nucleus, ...
Function chromatin binding, chromatin DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (251 records)
Data Summary: Results (1363)    Tissues (682)    Images (386)
Theiler Stages: 2, 3, 4, 5, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 85
RNA in situ 914
In situ reporter (knock in) 241
Northern blot 11
RT-PCR 103
RNase protection 9
cDNA source data(41)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(79) Genomic(4) cDNA(46) Primer pair(14) Other(15)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000037721 (Evidence)
Ensembl Gene ModelENSMUSG00000028023 (Evidence)
Entrez Gene18741 (Evidence)
UniGene246804
DFCITC1581584, TC1588619, TC1592787, TC1593031, TC1674133
DoTSDT.101718637, DT.101720974, DT.55228963, DT.87051722, DT.94237051, DT.97394140
NIA Mouse Gene IndexU003838
Consensus CDS ProjectCCDS17830.1, CCDS38630.1, CCDS38631.1
International Mouse Knockout Project StatusPitx2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037721 VEGA Gene Model | MGI Sequence Detail 19714 C57BL/6J ±  kb
transcript OTTMUST00000097424 VEGA | MGI Sequence Detail 2311 Not Applicable 
polypeptide OTTMUSP00000054645 VEGA | MGI Sequence Detail 324 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(16) UniProt(7)
Polymorphisms PCR(1) : SNPs within 2kb(43 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:000000117 pituitary homeobox protein 2
References (Earliest) J:2166 Murray JC, et al., Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep;2(1):46-9
(Latest) J:203117 Li X, et al., A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. Hum Mol Genet. 2014 Jan 1;23(1):194-208
All references(329)
Other
accession IDs
MGD-MRK-37449, MGD-MRK-38385, MGI:108406, MGI:2443452

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory