NACC2 (NACC family member 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 138151
Gene name NACC family member 2
Gene symbol NACC2
Synonyms (NCBI Gene)
BEND9BTBD14BTBD14ABTBD31NAC-2RBB
Chromosome 9
Chromosome location 9q34.3
miRNA miRNA information provided by mirtarbase database.
1314
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1314)
miRTarBase ID miRNA Experiments Reference
MIRT016683 hsa-miR-423-3p Sequencing 20371350
MIRT020125 hsa-miR-130b-3p Sequencing 20371350
MIRT023430 hsa-miR-30b-5p Sequencing 20371350
MIRT027987 hsa-miR-93-5p Sequencing 20371350
MIRT028773 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 22926524
GO:0000785 Component Chromatin IDA 22926524
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 22926524
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615786 23846 ENSG00000148411
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BF6
Protein name Nucleus accumbens-associated protein 2 (NAC-2) (BTB/POZ domain-containing protein 14A) (Repressor with BTB domain and BEN domain)
Protein function Functions as a transcriptional repressor through its association with the NuRD complex. Recruits the NuRD complex to the promoter of MDM2, leading to the repression of MDM2 transcription and subsequent stability of p53/TP53. {ECO:0000269|PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 20 → 122 BTB/POZ domain Domain
PF10523 BEN 375 → 450 BEN domain Domain
Sequence 
MSQMLHIEIPNFGNTVLGCLNEQRLLGLYCDVSIVVKGQAFKAHRAVLAASSLYFRDLFS
GNSKSAFELPGSVPPACFQQILSFCYTGRLTMTASEQLVVMYTAGFLQIQHIVERGTDLM
FKVSSPHCDSQTAVIEDAGSEPQSPCNQLQPAAAAAAPYVVSPSVPIPLLTRVKHEAMEL
PPAGPGLAPKRPLETGPRDGVAVAAGAAVAAGTAPLKLPRVSYYGVPSLATLIPGIQQMP
YPQGERTSPGASSLPTTDSPTSYHNEEDEEDDEAYDTMVEEQYGQMYIKASGSYAVQEKP
EPVPLESRSCVLIRRDLVALPASLISQIGYRCHPKLYSEGDPGEKLELVAGSGVYITRGQ
LMNCHLCAGVKHKVLLRRLLATFFDRNTLANSCGTGIRSSTSDPSRKPLDSRVLNAVKLY
CQNFAPSFKESEMNVIAADMCTNARRVRKRWLPKIKSMLPEGVEMYRTVMGSAAASVPLD
PEFPPAAAQVFEQRIYAERRGDAATIVALRTDAVNVDLSAAANPAFDAGEEVDGAGSVIQ
EVAAPEPLPADGQSPPQPFEQGGGGPSRPQTPAAAARRPEGTYAGTL
Sequence length 587
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SJOGREN SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations