• Gene id: 9577

Gene Summary

• Gene Symbol: BABAM2   Gene   UCSC   Ensembl
• Aliases: BRCC4, BRCC45, BRE
• Gene name: BRISC and BRCA1 A complex member 2
• Alternate names: BRISC and BRCA1-A complex member 2, BRCA1-A complex subunit BRE, BRCA1/BRCA2-containing complex subunit 45, BRCA1/BRCA2-containing complex, subunit 4, brain and reproductive organ-expressed (TNFRSF1A modulator), brain and reproductive organ-expressed protein,
• Gene location: 2p23.2 (121285209: 121216586)     Exons: 17     NC_000002.12
• Gene summary(Entrez): This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA
• OMIM: 610497

Protein Summary

• Protein general information: Q9NXR7  
  • Name: BRISC and BRCA1 A complex member 2 (BRCA1 A complex subunit BRE) (BRCA1/BRCA2 containing complex subunit 45) (Brain and reproductive organ expressed protein)
  • Length: 383  
  • Mass: 43552
  • Tissue specificity: Expressed in all cell lines examined. Highly expressed in placenta. {ECO
• Sequence:

  MSPEVALNRISPMLSPFISSVVRNGKVGLDATNCLRITDLKSGCTSLTPGPNCDRFKLHIPYAGETLKWDIIFNA
  QYPELPPDFIFGEDAEFLPDPSALQNLASWNPSNPECLLLVVKELVQQYHQFQCSRLRESSRLMFEYQTLLEEPQ
  YGENMEIYAGKKNNWTGEFSARFLLKLPVDFSNIPTYLLKDVNEDPGEDVALLSVSFEDTEATQVYPKLYLSPRI
  EHALGGSSALHIPAFPGGGCLIDYVPQVCHLLTNKVQYVIQGYHKRREYIAAFLSHFGTGVVEYDAEGFTKLTLL
  LMWKDFCFLVHIDLPLFFPRDQPTLTFQSVYHFTNSGQLYSQAQKNYPYSPRWDGNEMAKRAKAYFKTFVPQFQE
  AAFANGKL

• Structural information:
  • Interpro: IPR010358  
  • PDB: 6H3C 6R8F
  • PDBsum: 6H3C 6R8F
  • STRING: ENSP00000343412
• Other Databases: GeneCards:  BABAM2  Malacards:  BABAM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070536	protein K63-linked deubiquitination	IC	biological process
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0070531	BRCA1-A complex	IDA	cellular component
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070552	BRISC complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070552	BRISC complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IMP	biological process
GO:0045739	positive regulation of DNA repair	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0006302	double-strand break repair	IMP	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:0070531	BRCA1-A complex	IEA	cellular component
GO:0070552	BRISC complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	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:0005164	tumor necrosis factor receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000152	nuclear ubiquitin ligase complex	IDA	cellular component
GO:0005164	tumor necrosis factor receptor binding	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000268	peroxisome targeting sequence binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq