• Gene id: 10902

Gene Summary

• Gene Symbol: BRD8   Gene   UCSC   Ensembl
• Aliases: SMAP, SMAP2, p120
• Gene name: bromodomain containing 8
• Alternate names: bromodomain-containing protein 8, skeletal muscle abundant protein 2, thyroid hormone receptor coactivating protein of 120 kDa, trCP120,
• Gene location: 5q31.2 (138178668: 138139769)     Exons: 29     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear rece
• OMIM: 602848

Protein Summary

• Protein general information: Q9H0E9  
  • Name: Bromodomain containing protein 8 (Skeletal muscle abundant protein) (Skeletal muscle abundant protein 2) (Thyroid hormone receptor coactivating protein of 120 kDa) (TrCP120) (p120)
  • Length: 1235  
  • Mass: 135336
  • Tissue specificity: Expressed in adipose tissue, brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. {ECO
• Sequence:

  MATGTGKHKLLSTGPTEPWSIREKLCLASSVMRSGDQNWVSVSRAIKPFAEPGRPPDWFSQKHCASQYSELLETT
  ETPKRKRGEKGEVVETVEDVIVRKLTAERVEELKKVIKETQERYRRLKRDAELIQAGHMDSRLDELCNDIATKKK
  LEEEEAEVKRKATDAAYQARQAVKTPPRRLPTVMVRSPIDSASPGGDYPLGDLTPTTMEEATSGVNESEMAVASG
  HLNSTGVLLEVGGVLPMIHGGEIQQTPNTVAASPAASGAPTLSRLLEAGPTQFTTPLASFTTVASEPPVKLVPPP
  VESVSQATIVMMPALPAPSSAPAVSTTESVAPVSQPDNCVPMEAVGDPHTVTVSMDSSEISMIINSIKEECFRSG
  VAEAPVGSKAPSIDGKEELDLAEKMDIAVSYTGEELDFETVGDIIAIIEDKVDDHPEVLDVAAVEAALSFCEEND
  DPQSLPGPWEHPIQQERDKPVPLPAPEMTVKQERLDFEETENKGIHELVDIREPSAEIKVEPAEPEPVISGAEIV
  AGVVPATSMEPPELRSQDLDEELGSTAAGEIVEADVAIGKGDETPLTNVKTEASPESMLSPSHGSNPIEDPLEAE
  TQHKFEMSDSLKEESGTIFGSQIKDAPGEDEEEDGVSEAASLEEPKEEDQGEGYLSEMDNEPPVSESDDGFSIHN
  ATLQSHTLADSIPSSPASSQFSVCSEDQEAIQAQKIWKKAIMLVWRAAANHRYANVFLQPVTDDIAPGYHSIVQR
  PMDLSTIKKNIENGLIRSTAEFQRDIMLMFQNAVMYNSSDHDVYHMAVEMQRDVLEQIQQFLATQLIMQTSESGI
  SAKSLRGRDSTRKQDASEKDSVPMGSPAFLLSLFMGHEWVWLDSEQDHPNDSELSNDCRSLFSSWDSSLDLDVGN
  WRETEDPEAEELEESSPEREPSELLVGDGGSEESQEAARKASHQNLLHFLSEVAYLMEPLCISSNESSEGCCPPS
  GTRQEGREIKASEGERELCRETEELSAKGDPLVAEKPLGENGKPEVASAPSVICTVQGLLTESEEGEAQQESKGE
  DQGEVYVSEMEDQPPSGECDDAFNIKETPLVDTLFSHATSSKLTDLSQDDPVQDHLLFKKTLLPVWKMIASHRFS
  SPFLKPVSERQAPGYKDVVKRPMDLTSLKRNLSKGRIRTMAQFLRDLMLMFQNAVMYNDSDHHVYHMAVEMRQEV
  LEQIQVLNIWLDKRKGSSSLEGEPANPVDDGKPVF

• Structural information:
  • Protein Domains: (724..79-)
    (/note="Bromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (1120..119-)
    (/note="Bromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR038002  IPR037966  IPR001487  IPR036427  
  • Prosite: PS50014
  • CDD: cd05507
  • DIP: 31762
  • STRING: ENSP00000254900
• Other Databases: GeneCards:  BRD8  Malacards:  BRD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016573	histone acetylation	IBA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0000812	Swr1 complex	IDA	cellular component
GO:0035267	NuA4 histone acetyltransferase complex	IEA	cellular component
GO:0000812	Swr1 complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004879	nuclear receptor activity	TAS	molecular function
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0043968	histone H2A acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component

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)