• Gene id: 2637

Gene Summary

• Gene Symbol: GBX2   Gene   UCSC   Ensembl
• Gene name: gastrulation brain homeobox 2
• Alternate names: homeobox protein GBX-2, gastrulation and brain-specific homeobox protein 2,
• Gene location: 2q37.2 (236168385: 236165235)     Exons: 3     NC_000002.12
• OMIM: 600607

Protein Summary

• Protein general information: P52951  
  • Name: Homeobox protein GBX 2 (Gastrulation and brain specific homeobox protein 2)
  • Length: 348  
  • Mass: 37348
• Sequence:

  MSAAFPPSLMMMQRPLGSSTAFSIDSLIGSPPQPSPGHFVYTGYPMFMPYRPVVLPPPPPPPPALPQAALQPALP
  PAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSASPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAED
  GKGFLAKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKGKEESFSLESDVDYSSDDNLTGQAAHKEEDPG
  HALEETPPSSGAAGSTTSTGKNRRRRTAFTSEQLLELEKEFHCKKYLSLTERSQIAHALKLSEVQVKIWFQNRRA
  KWKRVKAGNANSKTGEPSRNPKIVVPIPVHVSRFAIRSQHQQLEQARP

• Structural information:
  • Interpro: IPR042982  IPR031250  IPR009057  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000302251
• Other Databases: GeneCards:  GBX2  Malacards:  GBX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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:0005634	nucleus	IBA	cellular component
GO:0030902	hindbrain development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0021549	cerebellum development	IBA	biological process
GO:0051960	regulation of nervous system development	IBA	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: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	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0035239	tube morphogenesis	IEA	biological process
GO:0030917	midbrain-hindbrain boundary development	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IEA	molecular function
GO:0048483	autonomic nervous system development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0021884	forebrain neuron development	IEA	biological process
GO:0021568	rhombomere 2 development	IEA	biological process
GO:0021555	midbrain-hindbrain boundary morphogenesis	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881