• Gene id: 10042

Gene Summary

• Gene Symbol: HMGXB4   Gene   UCSC   Ensembl
• Aliases: HMG2L1, HMGBCG, THC211630
• Gene name: HMG-box containing 4
• Alternate names: HMG domain-containing protein 4, HMG box domain containing 4, HMG box-containing protein 4, high mobility group protein 2-like 1,
• Gene location: 22q12.3 (35256696: 35295806)     Exons: 12     NC_000022.11
• Gene summary(Entrez): High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]
• OMIM: 604702

Protein Summary

• Protein general information: Q9UGU5  
  • Name: HMG domain containing protein 4 (HMG box containing protein 4) (High mobility group protein 2 like 1) (Protein HMGBCG)
  • Length: 601  
  • Mass: 65712
• Sequence:

  MAYDDSVKKEDCFDGDHTFEDIGLAAGRSQREKKRSYKDFLREEEEIAAQVRNSSKKKLKDSELYFLGTDTHKKK
  RKHSSDDYYYGDISSLESSQKKKKKSSPQSTDTAMDLLKAITSPLAAGSKPSKKTGEKSSGSSSHSESKKEHHRK
  KVSGSSGELPLEDGGSHKSKKMKPLYVNTETLTLREPDGLKMKLILSPKEKGSSSVDEESFQYPSQQATVKKSSK
  KSARDEQGALLLGHELQSFLKTARKKHKSSSDAHSSPGPEGCGSDASQFAESHSANLDLSGLEPILVESDSSSGG
  ELEAGELVIDDSYREIKKKKKSKKSKKKKDKEKHKEKRHSKSKRSLGLSAVPVGEVTVTSGPPPSIPYAGAAAPP
  LPLPGLHTDGHSEKKKKKEEKDKERERGEKPKKKNMSAYQVFCKEYRVTIVADHPGIDFGELSKKLAEVWKQLPE
  KDKLIWKQKAQYLQHKQNKAEATTVKRKASSSEGSMKVKASSVGVLSPQKKSPPTTMLLPASPAKAPETEPIDVA
  AHLQLLGESLSLIGHRLQETEGMVAVSGSLSVLLDSIICALGPLACLTTQLPELNGCPKQVLSNTLDNIAYIMPG
  L

• Structural information:
  • Interpro: IPR025228  IPR009071  IPR036910  IPR042477  
  • Prosite: PS50118
  • DIP: 60550
  • STRING: ENSP00000216106
• Other Databases: GeneCards:  HMGXB4  Malacards:  HMGXB4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016589	NURF complex	IDA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0042802	identical 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: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:0005634	nucleus	IEA	cellular component
GO:0030178	negative regulation of Wnt signaling pathway	ISS	biological process
GO:0008333	endosome to lysosome transport	NAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)