• Gene id: 10362

Gene Summary

• Gene Symbol: HMG20B   Gene   UCSC   Ensembl
• Aliases: BRAF25, BRAF35, HMGX2, HMGXB2, PP7706, SMARCE1r, SOXL, pp8857
• Gene name: high mobility group 20B
• Alternate names: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related, BRCA2-associated factor 35, HMG box domain containing 2, HMG box-containing protein 20B, HMG domain-containing protein 2, HMG domain-containing protein HMGX2,
• Gene location: 19p13.3 (3572915: 3579082)     Exons: 10     NC_000019.10
• OMIM: 605535

Protein Summary

• Protein general information: Q9P0W2  
  • Name: SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily E member 1 related (SMARCE1 related protein) (BRCA2 associated factor 35) (HMG box containing protein 20B) (HMG domain containing protein 2) (HMG domain containing protein
  • Length: 317  
  • Mass: 35813
  • Tissue specificity: Ubiquitously expressed in adult tissues. {ECO
• Sequence:

  MSHGPKQPGAAAAPAGGKAPGQHGGFVVTVKQERGEGPRAGEKGSHEEEPVKKRGWPKGKKRKKILPNGPKAPVT
  GYVRFLNERREQIRTRHPDLPFPEITKMLGAEWSKLQPTEKQRYLDEAEREKQQYMKELRAYQQSEAYKMCTEKI
  QEKKIKKEDSSSGLMNTLLNGHKGGDCDGFSTFDVPIFTEEFLDQNKAREAELRRLRKMNVAFEEQNAVLQRHTQ
  SMSSARERLEQELALEERRTLALQQQLQAVRQALTASFASLPVPGTGETPTLGTLDFYMARLHGAIERDPAQHEK
  LIVRIKEILAQVASEHL

• Structural information:
  • Interpro: IPR009071  IPR036910  
  • Prosite: PS50118
  • STRING: ENSP00000328269
• Other Databases: GeneCards:  HMG20B  Malacards:  HMG20B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007596	blood coagulation	TAS	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: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:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0033234	negative regulation of protein sumoylation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881