PITX2

Also known as ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2

Paired-like homeodomain transcription factor 2 also known as pituitary homeobox 2 is a protein that in humans is encoded by the PITX2 gene.

Gene data

PITX2

Name: paired like homeodomain 2
Type: protein-coding
Position: 110,617,423–110,642,182 (−)
Aliases: ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2
Ensembl: ENSG00000164093
RefSeq RNA: NM_000325.6, NM_001204397.2, NM_001204398.1, NM_001204399.1, NM_153426.3
RefSeq protein: NP_000316.2, NP_001191326.1, NP_001191327.1, NP_001191328.1, NP_700475.1

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II outflow tract morphogenesis outflow tract morphogenesis cardiac neural crest cell migration involved in outflow tract morphogenesis cardiac neural crest cell migration involved in outflow tract morphogenesis regulation of DNA-templated transcription regulation of DNA-templated transcription

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding

Cellular component

chromatin nucleus nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex transcription regulator complex

Pathways

TGF-beta signaling pathway - Homo sapiens (human)Generic Transcription Pathway RNA Polymerase II Transcription Gene expression (Transcription)Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors TFAP2 (AP-2) family regulates transcription of other transcription factors Heart Development Mesodermal commitment pathway BMP Signaling Pathway in Eyelid Development 22q11.2 copy number variation syndrome

via MyGene.info

Gene · Ensembl

paired like homeodomain 2

Symbol: PITX2
Biotype: Protein coding
Organism: Homo sapiens
Location: 4:110,617,423-110,642,182
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

~10 min read

Encyclopedic overview

5 sections

Contents

Function
Clinical significance
References
Further reading
External links

Paired-like homeodomain transcription factor 2 also known as pituitary homeobox 2 is a protein that in humans is encoded by the PITX2 gene.

== Function ==

Excerpted from Wikipedia’s “PITX2” article, available under the CC BY-SA 4.0 licence.

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PITX2

Gene data

Gene Ontology

Pathways

Gene · Ensembl

Encyclopedic overview

Available in 6 languages

What links here907 pages

What links here907 pages