• Gene id: 5308

Gene Summary

• Gene Symbol: PITX2   Gene   UCSC   Ensembl
• Aliases: ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS
• Gene name: paired like homeodomain 2
• Alternate names: pituitary homeobox 2, ALL1-responsive protein ARP1, all1-responsive gene 1, homeobox protein PITX2, paired-like homeodomain transcription factor 2, rieg bicoid-related homeobox transcription factor 1, solurshin,
• Gene location: 4q25 (110642122: 110617422)     Exons: 9     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 615174

Protein Summary

• Protein general information: Q99697  
  • Name: Pituitary homeobox 2 (ALL1 responsive protein ARP1) (Homeobox protein PITX2) (Paired like homeodomain transcription factor 2) (RIEG bicoid related homeobox transcription factor) (Solurshin)
  • Length: 317  
  • Mass: 35370
• Sequence:

  METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGKNEDVG
  AEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAE
  LCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSS
  MVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQ
  NPASNLSACQYAVDRPV

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR016233  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • PDB: 2L7F 2L7M 2LKX
  • PDBsum: 2L7F 2L7M 2LKX
  • STRING: ENSP00000304169
• Other Databases: GeneCards:  PITX2  Malacards:  PITX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IBA	molecular function
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0035315	hair cell differentiation	IC	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0035993	deltoid tuberosity development	IMP	biological process
GO:0043010	camera-type eye development	IMP	biological process
GO:0060127	prolactin secreting cell differentiation	TAS	biological process
GO:0061072	iris morphogenesis	IMP	biological process
GO:0061325	cell proliferation involved in outflow tract morphogenesis	ISS	biological process
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS	biological process
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0042476	odontogenesis	IMP	biological process
GO:0048536	spleen development	ISS	biological process
GO:0060126	somatotropin secreting cell differentiation	TAS	biological process
GO:0070986	left/right axis specification	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Anterior segment dysgenesis	KEGG:H01159
Axenfeld-Rieger syndrome	KEGG:H00620
Ring dermoid of cornea	KEGG:H01149
Anterior segment dysgenesis	KEGG:H01159
Axenfeld-Rieger syndrome	KEGG:H00620
Ring dermoid of cornea	KEGG:H01149
Arts syndrome	PMID:17701896
Axenfeld-Rieger syndrome	PMID:19052653
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray