• Gene id: 3149

Gene Summary

• Gene Symbol: HMGB3   Gene   UCSC   Ensembl
• Aliases: HMG-2a, HMG-4, HMG2A, HMG4
• Gene name: high mobility group box 3
• Alternate names: high mobility group protein B3, high mobility group protein 2a, high-mobility group (nonhistone chromosomal) protein 4,
• Gene location: Xq28 (95772505: 96110321)     Exons: 18     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation
• OMIM: 300193

Protein Summary

• Protein general information: O15347  
  • Name: High mobility group protein B3 (High mobility group protein 2a) (HMG 2a) (High mobility group protein 4) (HMG 4)
  • Length: 200  
  • Mass: 22980
  • Tissue specificity: Expressed predominantly in placenta.
• Sequence:

  MAKGDPKKPKGKMSAYAFFVQTCREEHKKKNPEVPVNFAEFSKKCSERWKTMSGKEKSKFDEMAKADKVRYDREM
  KDYGPAKGGKKKKDPNAPKRPPSGFFLFCSEFRPKIKSTNPGISIGDVAKKLGEMWNNLNDSEKQPYITKAAKLK
  EKYEKDVADYKSKGKFDGAKGPAKVARKKVEEEDEEEEEEEEEEEEEEDE

• Structural information:
  • Interpro: IPR009071  IPR036910  IPR017967  IPR031077  
  • Prosite: PS00353 PS50118
  • PDB: 2EQZ 2YQI
  • PDBsum: 2EQZ 2YQI
  • STRING: ENSP00000359393
• Other Databases: GeneCards:  HMGB3  Malacards:  HMGB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006310	DNA recombination	IBA	biological process
GO:0006338	chromatin remodeling	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0008301	DNA binding, bending	IBA	molecular function
GO:0045089	positive regulation of innate immune response	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008301	DNA binding, bending	TAS	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0008301	DNA binding, bending	ISS	molecular function
GO:0000400	four-way junction DNA binding	ISS	molecular function
GO:0032392	DNA geometric change	ISS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045578	negative regulation of B cell differentiation	IEA	biological process
GO:0045638	negative regulation of myeloid cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006310	DNA recombination	ISS	biological process
GO:0003690	double-stranded DNA binding	ISS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0008301	DNA binding, bending	ISS	molecular function

Diseases

Associated diseases	References
Microphthalmia, syndromic	KEGG:H02170
Microphthalmia, syndromic	KEGG:H02170
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881