• Gene id: 676

Gene Summary

• Gene Symbol: BRDT   Gene   UCSC   Ensembl
• Aliases: BRD6, CT9, SPGF21
• Gene name: bromodomain testis associated
• Alternate names: bromodomain testis-specific protein, RING3-like protein, bromodomain, testis-specific, cancer/testis antigen 9,
• Gene location: 1p22.1 (91949370: 92014427)     Exons: 21     NC_000001.11
• Gene summary(Entrez): BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodom
• OMIM: 602144

SNPs

rs10783071

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91962938C>A
NC_000001.10   g.92428495C>A
XM_006710853.4   c.184C>A
XM_006710855.4   c.184C>A
XM_006710854.4   c.184C>A
XM_006710856.4   c.184C>A
XM_006710857.4   c.184C>A
NM_001726.4   c.184C>A
NM_001726.3   c.184C>A
NM_207189.3   c.184C>A
NM_207189.2   c

rs10747493

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91992286C>A
NC_000001.11   g.91992286C>G
NC_000001.11   g.91992286C>T
NC_000001.10   g.92457843C>A
NC_000001.10   g.92457843C>G
NC_000001.10   g.92457843C>T
XM_006710853.4   c.2087C>A
XM_006710853.4   c.2087C>G
XM_006710853.4   c.2087C>T
XM_006710855.  

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs3088232

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91979700C>G
NC_000001.11   g.91979700C>T
NC_000001.10   g.92445257C>G
NC_000001.10   g.92445257C>T
XM_006710853.4   c.1230C>G
XM_006710853.4   c.1230C>T
XM_006710855.4   c.1230C>G
XM_006710855.4   c.1230C>T
XM_006710854.4   c.1230C>G
XM_006710854.4   c.

Protein Summary

• Protein general information: Q58F21  
  • Name: Bromodomain testis specific protein (Cancer/testis antigen 9) (CT9) (RING3 like protein)
  • Length: 947  
  • Mass: 107,954
• Sequence:

  MSLPSRQTAIIVNPPPPEYINTKKNGRLTNQLQYLQKVVLKDLWKHSFSWPFQRPVDAVKLQLPDYYTIIKNPMD
  LNTIKKRLENKYYAKASECIEDFNTMFSNCYLYNKPGDDIVLMAQALEKLFMQKLSQMPQEEQVVGVKERIKKGT
  QQNIAVSSAKEKSSPSATEKVFKQQEIPSVFPKTSISPLNVVQGASVNSSSQTAAQVTKGVKRKADTTTPATSAV
  KASSEFSPTFTEKSVALPPIKENMPKNVLPDSQQQYNVVKTVKVTEQLRHCSEILKEMLAKKHFSYAWPFYNPVD
  VNALGLHNYYDVVKNPMDLGTIKEKMDNQEYKDAYKFAADVRLMFMNCYKYNPPDHEVVTMARMLQDVFETHFSK
  IPIEPVESMPLCYIKTDITETTGRENTNEASSEGNSSDDSEDERVKRLAKLQEQLKAVHQQLQVLSQVPFRKLNK
  KKEKSKKEKKKEKVNNSNENPRKMCEQMRLKEKSKRNQPKKRKQQFIGLKSEDEDNAKPMNYDEKRQLSLNINKL
  PGDKLGRVVHIIQSREPSLSNSNPDEIEIDFETLKASTLRELEKYVSACLRKRPLKPPAKKIMMSKEELHSQKKQ
  ELEKRLLDVNNQLNSRKRQTKSDKTQPSKAVENVSRLSESSSSSSSSSESESSSSDLSSSDSSDSESEMFPKFTE
  VKPNDSPSKENVKKMKNECIPPEGRTGVTQIGYCVQDTTSANTTLVHQTTPSHVMPPNHHQLAFNYQELEHLQTV
  KNISPLQILPPSGDSEQLSNGITVMHPSGDSDTTMLESECQAPVQKDIKIKNADSWKSLGKPVKPSGVMKSSDEL
  FNQFRKAAIEKEVKARTQELIRKHLEQNTKELKASQENQRDLGNGLTVESFSNKIQNKCSGEEQKEHQQSSEAQD
  KSKLWLLKDRDLARQKEQERRRREAMVGTIDMTLQSDIMTMFENNFD

• Structural information:
  • Protein Domains: Bromo (44-116)
    Bromo (287-359)
    NET. (500-582)
  • Interpro: IPR031354  IPR001487  IPR036427  IPR018359  IPR027353   IPR038336  
  • Prosite: PS00633 PS50014 PS51525
  • PDB: 2RFJ 4FLP 4KCX
  • PDBsum: 2RFJ 4FLP 4KCX
  • STRING: ENSP00000354568
• Other Databases: GeneCards:  BRDT  Malacards:  BRDT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001207	histone displacement	ISS	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0006338	chromatin remodeling	ISS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007141	male meiosis I	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0043484	regulation of RNA splicing	ISS	biological process
GO:0051039	positive regulation of transcription involved in meiotic cell cycle	ISS	biological process
GO:0070577	lysine-acetylated histone binding	ISS	molecular function
GO:0001207	histone displacement	IEA	biological process
GO:0001207	histone displacement	ISS	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
GO:0006338	chromatin remodeling	ISS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007141	male meiosis I	IEA	biological process
GO:0007141	male meiosis I	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0043484	regulation of RNA splicing	ISS	biological process
GO:0051039	positive regulation of transcription involved in meiotic cell cycle	IEA	biological process
GO:0051039	positive regulation of transcription involved in meiotic cell cycle	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0070577	lysine-acetylated histone binding	IEA	molecular function
GO:0070577	lysine-acetylated histone binding	ISS	molecular function
GO:0001207	histone displacement	ISS	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0006338	chromatin remodeling	ISS	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007141	male meiosis I	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0043484	regulation of RNA splicing	ISS	biological process
GO:0051039	positive regulation of transcription involved in meiotic cell cycle	ISS	biological process
GO:0070577	lysine-acetylated histone binding	ISS	molecular function

Diseases

Associated diseases	References
Subfertility	MIK: 20538714
Subfertility associated with impaired sperm chromatin condensation	MIK: 20538714
Non obstructive azoospermia	MIK: 25739334
Male factor infertility	MIK: 15647849
Oligozoospermia	MIK: 22016351
Azoospermia	MIK: 20378615
Important for epigenetic reprogramming during spermatogenesis	INFBASE: 19471314
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Acephalic spermatozoa	MIK: 28199965
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 24865796
Oligozoospermia	MIK: 22016351
Important for epigenetic reprogramming during spermatogenesis.	MIK: 19471314
Involved in spermatogenesis	MIK: 26565999
Male germ cell differentiation	MIK: 17728347
Male infertility	MIK: 15647849
Non-obstructive azoospermia	MIK: 25739334
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19471314	Important for epigenetic reprogramming during spermatogenesis.				Male infertility	MBD1 and MBD2 isoforms MBD3L1 SUVH39H2 BRDT and EZH2
25739334	Non-obstructive azoospermia			1466 (757 NOA patients, 709 fertile males)	Male infertility	BRWD1 DNMT1 DNMT3B RNF17 UBR2 USP1 USP26 BRDT and MTHFR
22016351	Azoospermia, Oligozoospermia	SNPs rs5911500 in LOC203413, rs3088232 in BRDT, and rs11204546 in OR2W3	Macedon ians, A lbanian s	297 (136 men with idiopathic infertility (60 azoospermic and 76 oligozoospermic), 161 fertile controls)	Male infertility	FASLG JMJDIA LOC203413 TEX15 BRDT OR2W3 INSR and TAS2R38
20538714	Subfertility associated with impaired sperm chromatin condensation				Male infertility	BRDT
15647849	Male infertility				Male infertility	BRDT-NY
26994494	Regulation of development and spermatogenesis, Male infertility				Male infertility
26565999	Involved in spermatogenesis				Male infertility
24865796	Azoospermia, Male infertility	rs3088232		276 azoospermic men	Male infertility
29713536	Sperm morphological defects	c.G2783A (p.G928D)			Male infertility	NGS
20378615	Oligozoospermia or azoospermia	rs3088232	Europea n	442 (158 normospermic controls, 63 moderately oligozoospermic samples, 141 severe oligozoospermic samples and 80 non-obstructed azoospermic samples)	Male infertility	GWAS
28199965	Acephalic spermatozoa	c.G2783A, p.G928D		1 case	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
17728347	Male germ cell differentiation				Male infertility