• Gene id: 60529

Gene Summary

• Gene Symbol: ALX4   Gene   UCSC   Ensembl
• Aliases: CRS5, FND2
• Gene name: ALX homeobox 4
• Alternate names: homeobox protein aristaless-like 4, aristaless-like homeobox 4, homeodomain transcription factor ALX4,
• Gene location: 11p11.2 (44310138: 44260439)     Exons: 4     NC_000011.10
• Gene summary(Entrez): This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized
• OMIM: 611361

Protein Summary

• Protein general information: Q9H161  
  • Name: Homeobox protein aristaless like 4
  • Length: 411  
  • Mass: 44241
  • Tissue specificity: Expression is likely to be restricted to bone. Found in parietal bone.
• Sequence:

  MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDAKSRARYGAGQQDLAT
  PLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQPHLYLQRGACKTPPDGSLKLQEGSSGHSAAL
  QVPCYAKESSLGEPELPPDSDTVGMDSSYLSVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQ
  LEELEKVFQKTHYPDVYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENY
  AQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVGQTHMGSLFGAASLSP
  GLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT

• Structural information:
  • Interpro: IPR033203  IPR009057  IPR017970  IPR001356  IPR003654  
  • Prosite: PS00027 PS50071 PS50803
  • CDD: cd00086
  • PDB: 2M0C
  • PDBsum: 2M0C
  • STRING: ENSP00000332744
• Other Databases: GeneCards:  ALX4  Malacards:  ALX4

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:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0001942	hair follicle development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
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:0007275	multicellular organism development	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0060021	roof of mouth development	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0001501	skeletal system development	NAS	biological process
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:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0001942	hair follicle development	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
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:0007275	multicellular organism development	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071837	HMG box domain binding	IEA	molecular function
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0060021	roof of mouth development	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0001501	skeletal system development	NAS	biological process

Diseases

Associated diseases	References
Craniosynostoses	KEGG:H02160
Frontonasal dysplasia	KEGG:H00528
Enlarged parietal foramina/cranium bifidum	KEGG:H00475
Craniosynostoses	KEGG:H02160
Frontonasal dysplasia	KEGG:H00528
Enlarged parietal foramina/cranium bifidum	KEGG:H00475
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