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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PITX2
Protein SuperFamily: homeobox protein, Pitx/Unc30 types
Gene Tree: Pitx2

Human
homologs
PITX2, paired-like homeodomain 2
Orthology source: HomoloGene

IDs:
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.p2

Disease Associations: (4) Diseases Associated with Human PITX2

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Targeted(19) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Pitx2 (1)    Mutations Annotated to Human Diseases (8)   
Interactions
Pitx2 interacts with 276 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (105 annotations)
Process anatomical structure morphogenesis, atrial cardiac muscle tissue morphogenesis, ...
Component cytoplasm, nucleoplasm, ...
Function chromatin binding, chromatin DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (274 records)
Data Summary: Results (1397)    Tissues (685)    Images (413)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 87
RNA in situ 922
In situ reporter (knock in) 260
Northern blot 11
RT-PCR 108
RNase protection 9
cDNA source data(41)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA PITX2 ; Xenbase pitx2 ; ZFIN pitx2    NEW 
Molecular
reagents
All nucleic(84) Genomic(4) cDNA(47) Primer pair(17) Other(16)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000037721 (Evidence)
Ensembl Gene Model ENSMUSG00000028023 (Evidence)
Entrez Gene 18741 (Evidence)
UniGene 246804
DFCI TC1592787, TC1588619, TC1581584, TC1593031, TC1674133
DoTS DT.101718637, DT.101720974, DT.55228963, DT.97394140, DT.94237051, DT.87051722
NIA Mouse Gene Index U003838
Consensus CDS Project CCDS17830.1, CCDS38630.1, CCDS38631.1, CCDS71316.1
International Mouse Phenotyping Consortium Status Pitx2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037721 VEGA Gene Model | MGI Sequence Detail 19714 C57BL/6J ±  kb
transcript OTTMUST00000097424 VEGA | MGI Sequence Detail 2271 Not Applicable 
polypeptide OTTMUSP00000054645 VEGA | MGI Sequence Detail 324 Not Applicable 

For the selected sequences
All sequences(90) RefSeq(18) 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:219786 Naillat F, et al., Identification of the genes regulated by Wnt-4, a critical signal for commitment of the ovary. Exp Cell Res. 2015 Mar 15;332(2):163-78
All references(352)
Disease annotation references (6)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory