• Gene id: 138151

Gene Summary

• Gene Symbol: NACC2   Gene   UCSC   Ensembl
• Aliases: BEND9, BTBD14, BTBD14A, BTBD31, NAC-2, RBB
• Gene name: NACC family member 2
• Alternate names: nucleus accumbens-associated protein 2, BEN domain containing 9, BTB (POZ) domain containing 14A, BTB/POZ domain-containing protein 14A, NACC family member 2, BEN and BTB (POZ) domain containing, repressor with BTB domain and BEN domain, transcription repressor,
• Gene location: 9q34.3 (128343914: 128297684)     Exons: 20     NC_000007.14
• OMIM: 615786

Protein Summary

• Protein general information: Q96BF6  
  • Name: Nucleus accumbens associated protein 2 (NAC 2) (BTB/POZ domain containing protein 14A) (Repressor with BTB domain and BEN domain)
  • Length: 587  
  • Mass: 62837
• Sequence:

  MSQMLHIEIPNFGNTVLGCLNEQRLLGLYCDVSIVVKGQAFKAHRAVLAASSLYFRDLFSGNSKSAFELPGSVPP
  ACFQQILSFCYTGRLTMTASEQLVVMYTAGFLQIQHIVERGTDLMFKVSSPHCDSQTAVIEDAGSEPQSPCNQLQ
  PAAAAAAPYVVSPSVPIPLLTRVKHEAMELPPAGPGLAPKRPLETGPRDGVAVAAGAAVAAGTAPLKLPRVSYYG
  VPSLATLIPGIQQMPYPQGERTSPGASSLPTTDSPTSYHNEEDEEDDEAYDTMVEEQYGQMYIKASGSYAVQEKP
  EPVPLESRSCVLIRRDLVALPASLISQIGYRCHPKLYSEGDPGEKLELVAGSGVYITRGQLMNCHLCAGVKHKVL
  LRRLLATFFDRNTLANSCGTGIRSSTSDPSRKPLDSRVLNAVKLYCQNFAPSFKESEMNVIAADMCTNARRVRKR
  WLPKIKSMLPEGVEMYRTVMGSAAASVPLDPEFPPAAAQVFEQRIYAERRGDAATIVALRTDAVNVDLSAAANPA
  FDAGEEVDGAGSVIQEVAAPEPLPADGQSPPQPFEQGGGGPSRPQTPAAAARRPEGTYAGTL

• Structural information:
  • Protein Domains: (30..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (351..44-)
    (/note="BEN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00784"-)
  • Interpro: IPR018379  IPR000210  IPR011333  
  • Prosite: PS51457 PS50097
  • STRING: ENSP00000277554
• Other Databases: GeneCards:  NACC2  Malacards:  NACC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900477	negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0034629	cellular protein-containing complex localization	IDA	biological process
GO:1900477	negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:1902231	positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq