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Gene: PITX2 (paired like homeodomain 2) Homo sapiens
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Symbol: PITX2
Name: paired like homeodomain 2
Description: Exhibits several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; protein homodimerization activity; and transcription factor binding activity. Involved in animal organ development and regulation of transcription by RNA polymerase II. Localizes to the nucleoplasm and transcription factor complex. Implicated in Arts syndrome; Axenfeld-Rieger syndrome; and Axenfeld-Rieger syndrome type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: all1-responsive gene 1; ALL1-responsive protein ARP1; ARP1; ASGD4; Brx1; homeobox protein PITX2; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx2; paired-like homeodomain 2; paired-like homeodomain transcription factor 2; pituitary homeo box 2; pituitary homeobox 2; PTX2; RGS; RIEG; rieg bicoid-related homeobox transcription factor 1; RIEG1; RS; solurshin
Orthologs:
Mus musculus (house mouse) : Pitx2 (paired-like homeodomain transcription factor 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pitx2 (paired-like homeodomain 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pitx2 (paired like homeodomain 2)
Pan paniscus (bonobo/pygmy chimpanzee) : PITX2 (paired like homeodomain 2)
Canis lupus familiaris (dog) : PITX2 (paired like homeodomain 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pitx2 (paired like homeodomain 2)
Sus scrofa (pig) : PITX2 (paired like homeodomain 2)
Chlorocebus sabaeus (green monkey) : PITX2 (paired like homeodomain 2)
Heterocephalus glaber (naked mole-rat) : Pitx2 (paired like homeodomain 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl4110,617,423 - 110,642,123 (-)Ensembl
GRCh384110,617,423 - 110,642,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374111,538,579 - 111,563,279 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364111,758,028 - 111,777,957 (-)NCBINCBI36hg18NCBI36
Build 344111,896,185 - 111,916,112NCBI
Celera4108,832,403 - 108,852,329 (-)NCBI
Cytogenetic Map4q25NCBI
HuRef4107,270,120 - 107,294,817 (-)NCBIHuRef
CHM1_14111,515,486 - 111,540,182 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PITX2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731390
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.