ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

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:

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

Marker

LOD

P value

Location (bp)

D4S423

2.61

0.0003

92691777

D4S427

3.53

0.00003

121646580

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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0005667	transcription factor complex	Cellular Component	IDA (15385555)
GO:0003700	transcription factor activity	Molecular Function	IDA (15385555)
GO:0008134	transcription factor binding	Molecular Function	IPI (15385555)
GO:0043565	sequence-specific DNA binding	Molecular Function	IEA
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IDA (15385555)
GO:0007275	multicellular organismal development	Biological Process	IEA
GO:0007368	determination of left/right symmetry	Biological Process	TAS (9708732)
GO:0009887	organ morphogenesis	Biological Process	TAS (9618168)