• Gene id: 605

Gene Summary

• Gene Symbol: BCL7A   Gene   UCSC   Ensembl
• Aliases: BCL7
• Gene name: BAF chromatin remodeling complex subunit BCL7A
• Alternate names: B-cell CLL/lymphoma 7 protein family member A, B-cell CLL/lymphoma 7A, B-cell CLL/lymphoma-7, BCL tumor suppressor 7A, BCL7A, BAF complex component,
• Gene location: 12q24.31 (122021883: 122062043)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the patho
• OMIM: 601406

Protein Summary

• Protein general information: Q4VC05  
  • Name: B cell CLL/lymphoma 7 protein family member A
  • Length: 210  
  • Mass: 22810
• Sequence:

  MSGRSVRAETRSRAKDDIKRVMAAIEKVRKWEKKWVTVGDTSLRIYKWVPVTEPKVDDKNKNKKKGKDEKCGSEV
  TTPENSSSPGMMDMHDDNSNQSSIADASPIKQENSSNSSPAPEPNSAVPSDGTEAKVDEAQADGKEHPGAEDASD
  EQNSQSSMEHSMNSSEKVDRQPSGDSGLAAETSAISQDLEGVPPSKKMKLEASQQNSEEM

• Structural information:
  • Interpro: IPR006804  
  • DIP: 27608
  • STRING: ENSP00000445868
• Other Databases: GeneCards:  BCL7A  Malacards:  BCL7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R