• Gene id: 51450

Gene Summary

• Gene Symbol: PRRX2   Gene   UCSC   Ensembl
• Aliases: PMX2, PRX2
• Gene name: paired related homeobox 2
• Alternate names: paired mesoderm homeobox protein 2, PRX-2, paired-like homeodomain protein PRX2, paired-related homeobox protein 2, testicular tissue protein Li 148, testicular tissue protein Li 160,
• Gene location: 9q34.11 (129665646: 129722673)     Exons: 5     NC_000009.12
• Gene summary(Entrez): The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in ex
• OMIM: 602525

Protein Summary

• Protein general information: Q99811  
  • Name: Paired mesoderm homeobox protein 2 (Paired related homeobox protein 2) (PRX 2)
  • Length: 253  
  • Mass: 27079
  • Tissue specificity: In fetal skin, highest expression found in cells of mesodermal origin within the dermal papilla of the developing hair shaft. Not detected in epidermis or dermis. In adult skin, weakly expressed within the basal layers of the epidermis
• Sequence:

  MDSAAAAFALDKPALGPGPPPPPPALGPGDCAQARKNFSVSHLLDLEEVAAAGRLAARPGARAEAREGAAREPSG
  GSSGSEAAPQDGECPSPGRGSAAKRKKKQRRNRTTFNSSQLQALERVFERTHYPDAFVREELARRVNLSEARVQV
  WFQNRRAKFRRNERAMLASRSASLLKSYSQEAAIEQPVAPRPTALSPDYLSWTASSPYSTVPPYSPGSSGPATPG
  VNMANSIASLRLKAKEFSLHHSQVPTVN

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • STRING: ENSP00000361547
• Other Databases: GeneCards:  PRRX2  Malacards:  PRRX2

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: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:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq