• Gene id: 6046

Gene Summary

• Gene Symbol: BRD2   Gene   UCSC   Ensembl
• Aliases: BRD2-IT1, D6S113E, FSH, FSRG1, NAT, O27.1.1, RING3, RNF3
• Gene name: bromodomain containing 2
• Alternate names: bromodomain-containing protein 2, BRD2 intronic transcript 1, female sterile homeotic-related gene 1, really interesting new gene 3 protein,
• Gene location: 6p21.32 (32968659: 32981504)     Exons: 17     NC_000006.12
• Gene summary(Entrez): This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds
• OMIM: 601540

Protein Summary

• Protein general information: P25440  
  • Name: Bromodomain containing protein 2 (O27.1.1) (Really interesting new gene 3 protein)
  • Length: 801  
  • Mass: 88,061
  • Tissue specificity: Localizes to glandular epithelium, stroma and vascular epithelial cells of first trimester decidua (at protein level). Up-regulated in first trimester decidua when compared with non-pregnant endometrium. Expressed in the steroidogenic
• Sequence:

  MLQNVTPHNKLPGEGNAGLLGLGPEAAAPGKRIRKPSLLYEGFESPTMASVPALQLTPANPPPPEVSNPKKPGRV
  TNQLQYLHKVVMKALWKHQFAWPFRQPVDAVKLGLPDYHKIIKQPMDMGTIKRRLENNYYWAASECMQDFNTMFT
  NCYIYNKPTDDIVLMAQTLEKIFLQKVASMPQEEQELVVTIPKNSHKKGAKLAALQGSVTSAHQVPAVSSVSHTA
  LYTPPPEIPTTVLNIPHPSVISSPLLKSLHSAGPPLLAVTAAPPAQPLAKKKGVKRKADTTTPTPTAILAPGSPA
  SPPGSLEPKAARLPPMRRESGRPIKPPRKDLPDSQQQHQSSKKGKLSEQLKHCNGILKELLSKKHAAYAWPFYKP
  VDASALGLHDYHDIIKHPMDLSTVKRKMENRDYRDAQEFAADVRLMFSNCYKYNPPDHDVVAMARKLQDVFEFRY
  AKMPDEPLEPGPLPVSTAMPPGLAKSSSESSSEESSSESSSEEEEEEDEEDEEEEESESSDSEEERAHRLAELQE
  QLRAVHEQLAALSQGPISKPKRKREKKEKKKKRKAEKHRGRAGADEDDKGPRAPRPPQPKKSKKASGSGGGSAAL
  GPSGFGPSGGSGTKLPKKATKTAPPALPTGYDSEEEEESRPMSYDEKRQLSLDINKLPGEKLGRVVHIIQAREPS
  LRDSNPEEIEIDFETLKPSTLRELERYVLSCLRKKPRKPYTIKKPVGKTKEELALEKKRELEKRLQDVSGQLNST
  KKPPKKANEKTESSSAQQVAVSRLSASSSSSDSSSSSSSSSSSDTSDSDSG

• Structural information:
  • Protein Domains: Bromo (91-163)
    Bromo (364-436)
    NET. (632-714)
  • Interpro: IPR001487  IPR036427  IPR018359  IPR027353  IPR038336  
  • Prosite: PS00633 PS50014 PS51525
  • PDB: 1X0J 2DVQ 2DVR 2DVS 2DVV 2E3K 2G4A 2YDW 2YEK 3AQA 3ONI 4A9E 4A9F 4A9H 4A9I 4A9J 4A9M 4A9N 4A9O 4AKN 4ALG 4ALH 4J1P 4MR5 4MR6 4QEU 4QEV 4QEW 4UYF 4UYG 4UYH 5BT5 5DFB 5DFC 5DFD 5DW1 5EK9 5HEL 5HEM 5HEN 5HFQ 5IBN 5IG6 5O38 5O39 5O3A 5O3B 5O3C 5O3D 5O3E 5O3F
  • PDBsum: 1X0J 2DVQ 2DVR 2DVS 2DVV 2E3K 2G4A 2YDW 2YEK 3AQA 3ONI 4A9E 4A9F 4A9H 4A9I 4A9J 4A9M 4A9N 4A9O 4AKN 4ALG 4ALH 4J1P 4MR5 4MR6 4QEU 4QEV 4QEW 4UYF 4UYG 4UYH 5BT5 5DFB 5DFC 5DFD 5DW1 5EK9 5HEL 5HEM 5HEN 5HFQ 5IBN 5IG6 5O38 5O39 5O3A 5O3B 5O3C 5O3D 5O3E 5O3F
  • DIP: 60835
  • STRING: ENSP00000378702
• Other Databases: GeneCards:  BRD2  Malacards:  BRD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006334	nucleosome assembly	IMP	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006334	nucleosome assembly	IMP	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006334	nucleosome assembly	IMP	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0007283	spermatogenesis	TAS	biological process
GO:0070577	lysine-acetylated histone binding	IDA	molecular function

Diseases

Associated diseases	References
Asthma	GAD: 21804548
Systemic lupus erythematosus (SLE)	GAD: 19851445
Alzheimer's disease	GAD: 19204726
Epilepsy	GAD: 12830434
Asthenozoospermia	MIK: 22353264
Azoospermia	GAD: 12366783
Abortion	GAD: 20587610
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 22353264
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 9693039
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22353264	Asthenozoospermia				Male infertility	ANXA2 BRD2 OAZ3
9693039	Plays an important role in spermatogenesis				Male infertility
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray