• Gene id: 401

Gene Summary

• Gene Symbol: PHOX2A   Gene   UCSC   Ensembl
• Aliases: ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
• Gene name: paired like homeobox 2A
• Alternate names: paired mesoderm homeobox protein 2A, ARIX1 homeodomain protein, aristaless homeobox homolog, aristaless homeobox protein homolog, arix homeodomain protein,
• Gene location: 11q13.4 (72244175: 72239076)     Exons: 3     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyr
• OMIM: 186946

Protein Summary

• Protein general information: O14813  
  • Name: Paired mesoderm homeobox protein 2A (ARIX1 homeodomain protein) (Aristaless homeobox protein homolog) (Paired like homeobox 2A)
  • Length: 284  
  • Mass: 29653
• Sequence:

  MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPAAGPPCPALGSSNCALGALRDHQPAPYSAVPY
  KFFPEPSGLHEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQER
  AASAKGAAGAAGAKKGEARCSSEDDDSKESTCSPTPDSTASLPPPPAPGLASPRLSPSPLPVALGSGPGPGPGPQ
  PLKGALWAGVAGGGGGGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPGPALKTNLF

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000298231
• Other Databases: GeneCards:  PHOX2A  Malacards:  PHOX2A

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:0048484	enteric nervous system development	IBA	biological process
GO:0048483	autonomic nervous system development	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	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:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0003357	noradrenergic neuron differentiation	IEA	biological process
GO:0043576	regulation of respiratory gaseous exchange	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0021523	somatic motor neuron differentiation	IEA	biological process
GO:0021623	oculomotor nerve formation	IEA	biological process
GO:0021642	trochlear nerve formation	IEA	biological process
GO:0021703	locus ceruleus development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048486	parasympathetic nervous system development	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003357	noradrenergic neuron differentiation	IC	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071542	dopaminergic neuron differentiation	IC	biological process
GO:0003357	noradrenergic neuron differentiation	NAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Congenital fibrosis of the extraocular muscles	KEGG:H00838
Congenital fibrosis of the extraocular muscles	KEGG:H00838
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq