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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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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


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

CRRD Object Information
CRRD ID: 731390
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
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.