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Gene Information
Gene ID:5308
Symbol:PITX2
Full Name:paired-like homeodomain 2
Alias:ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|MGC111022|MGC20144|Otlx2|PTX2|RGS|RIEG|RIEG1|RS
Organism:Homo sapiens (Human)
Chromosome:4
Genetic Location:4q25-q27
Physical Location:111758027-111777956 on NC_000004.10, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D4S4232.610.000392691777
D4S4273.530.00003121646580
Region:92691777-121646580
Phenotype:ADSX (number of DSM-IV AD symptoms)
Name:16534506
Method:Linkage
Publication:Prescott et al. Mol Psychiatry. (2006) Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4. PubMed
Summary:We conducted a genome scan in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD). A 4 cM genome scan was conducted using 474 families of which most (96%) were comprised by affected sib pairs. Nonparametric and quantitative linkage analyses were conducted using DSM-IV alcohol dependence (AD) and number of DSM-IV AD symptoms (ADSX). Quantitative results indicate strong linkage for number of AD criteria to a broad region of chromosome 4, ranging from 4q22 to 4q32 (peak multipoint LOD=4.59, P=2.1 x 10(-6), at D4S1611). We got the gene list in the region between two markers D4S423 and D4S427 as markers between (included) these two markers have LOD scores >2 with P value <0.0003.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000325.5NP_000316.2NC_000004.10 range: 111758027..111777956, complement
NM_153426.1NP_700475.1NC_000004.10 range: 111758027..111777956, complement
NM_153427.1NP_700476.1NC_000004.10 range: 111758027..111777956, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005634nucleusCellular ComponentIEA
GO:0005667transcription factor complexCellular ComponentIDA (15385555)
GO:0003700transcription factor activityMolecular FunctionIDA (15385555)
GO:0008134transcription factor bindingMolecular FunctionIPI (15385555)
GO:0043565sequence-specific DNA bindingMolecular FunctionIEA
GO:0006355regulation of transcription, DNA-dependentBiological ProcessIDA (15385555)
GO:0007275multicellular organismal developmentBiological ProcessIEA
GO:0007368determination of left/right symmetryBiological ProcessTAS (9708732)
GO:0009887organ morphogenesisBiological ProcessTAS (9618168)
Other Database Cross Links
NCBI Entrez Gene:5308
HGNC:9005
Ensembl:ENSG00000164093
MIM:601542
HPRD:03328
HuGE Navigator:5308
dbSNP:PITX2
GeneCard:PITX2
AceView:PITX2