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Aliases for NACC2 Gene

Aliases for NACC2 Gene

  • NACC Family Member 2 2 3 5
  • NACC Family Member 2, BEN And BTB (POZ) Domain Containing 2 3
  • Repressor With BTB Domain And BEN Domain 3 4
  • BTB/POZ Domain-Containing Protein 14A 3 4
  • BTB (POZ) Domain Containing 14A 2 3
  • BEN Domain Containing 9 2 3
  • BTBD14A 3 4
  • NAC-2 3 4
  • RBB 3 4
  • Transcription Repressor With A BTB Domain And A BEN Domain 3
  • Nucleus Accumbens-Associated Protein 2 3
  • BTBD14 3
  • BTBD31 3
  • BEND9 3
  • NAC2 4

External Ids for NACC2 Gene

Previous HGNC Symbols for NACC2 Gene

  • BTBD14A

Previous GeneCards Identifiers for NACC2 Gene

  • GC09M138039
  • GC09M138898
  • GC09M108365

Summaries for NACC2 Gene

GeneCards Summary for NACC2 Gene

NACC2 (NACC Family Member 2) is a Protein Coding gene. Diseases associated with NACC2 include Interstitial Myocarditis and Fiedler's Myocarditis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NACC1.

UniProtKB/Swiss-Prot for NACC2 Gene

  • 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.

Additional gene information for NACC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NACC2 Gene

Genomics for NACC2 Gene

GeneHancer (GH) Regulatory Elements for NACC2 Gene

Promoters and enhancers for NACC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I136088 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554 +2.7 2711 7.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 DEK SP3 SP5 NACC2 MAN1B1 SDCCAG3 INPP5E SEC16A SNAPC4 UBAC1 QSOX2 SNHG7 CCDC183-AS1
GH09I136051 Promoter/Enhancer 1.4 EPDnew Ensembl dbSUPER 550.3 +43.5 43484 1.2 ZNF398 ZBTB26 ZBTB20 PIR45042 NACC2 LOC105376322
GH09I136116 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.3 -23.5 -23495 4.7 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 TMEM250 PIR59111 NACC2 UBAC1 LOC105376323 GC09M136118 PIR51204
GH09I136003 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +92.1 92093 1.9 TFAP4 KLF1 MXI1 SAP130 MLX ARID4B KLF17 EBF1 TEAD3 PATZ1 NACC2 UBAC1 GC09P136007 GC09P136008 GC09P136009 GC09P136010 GC09P136011 GC09P136012 GC09P136014 PIR44599
GH09I136224 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.4 -130.4 -130440 3.1 HDGF RB1 ZSCAN4 ARID4B SIN3A ZNF2 IRF4 RAD21 RFX5 HSF1 LHX3 NACC2 PMPCA SDCCAG3 QSOX2 OBP2A GC09M136222 PIR36610
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NACC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NACC2 gene promoter:

Genomic Locations for NACC2 Gene

Genomic Locations for NACC2 Gene
chr9:136,006,537-136,095,285
(GRCh38/hg38)
Size:
88,749 bases
Orientation:
Minus strand
chr9:138,898,383-138,987,131
(GRCh37/hg19)

Genomic View for NACC2 Gene

Genes around NACC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NACC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NACC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NACC2 Gene

Proteins for NACC2 Gene

  • Protein details for NACC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BF6-NACC2_HUMAN
    Recommended name:
    Nucleus accumbens-associated protein 2
    Protein Accession:
    Q96BF6

    Protein attributes for NACC2 Gene

    Size:
    587 amino acids
    Molecular mass:
    62837 Da
    Quaternary structure:
    • Homooligomer; mediated by the BTB domain. Interacts with the NuRD complex. Interacts (via C-terminal part) with HDAC2. Interacts (via BTB domain) with MTA1, MTA2 and MTA3.

neXtProt entry for NACC2 Gene

Post-translational modifications for NACC2 Gene

No Post-translational modifications

Other Protein References for NACC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NACC2 Gene

Domains & Families for NACC2 Gene

Gene Families for NACC2 Gene

Protein Domains for NACC2 Gene

Suggested Antigen Peptide Sequences for NACC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NACC2: view

No data available for UniProtKB/Swiss-Prot for NACC2 Gene

Function for NACC2 Gene

Molecular function for NACC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for NACC2 Gene

Gene Ontology (GO) - Molecular Function for NACC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 22926524
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding IDA 22926524
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 22926524
GO:0004407 histone deacetylase activity IDA 22926524
GO:0005515 protein binding IPI 22926524
genes like me logo Genes that share ontologies with NACC2: view
genes like me logo Genes that share phenotypes with NACC2: view

Animal Models for NACC2 Gene

MGI Knock Outs for NACC2:

miRNA for NACC2 Gene

miRTarBase miRNAs that target NACC2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NACC2 Gene

Localization for NACC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NACC2 Gene

Nucleus. Note=Predominantly associated with chromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NACC2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NACC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 22926524
GO:0005634 nucleus ISS --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0016581 colocalizes_with NuRD complex IDA 22926524
genes like me logo Genes that share ontologies with NACC2: view

Pathways & Interactions for NACC2 Gene

SuperPathways for NACC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NACC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008284 positive regulation of cell proliferation ISS --
GO:0008285 negative regulation of cell proliferation IDA 22926524
GO:0010608 posttranscriptional regulation of gene expression IMP 22926524
genes like me logo Genes that share ontologies with NACC2: view

No data available for Pathways by source and SIGNOR curated interactions for NACC2 Gene

Drugs & Compounds for NACC2 Gene

No Compound Related Data Available

Transcripts for NACC2 Gene

Unigene Clusters for NACC2 Gene

NACC family member 2, BEN and BTB (POZ) domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NACC2 Gene

No ASD Table

Relevant External Links for NACC2 Gene

GeneLoc Exon Structure for
NACC2
ECgene alternative splicing isoforms for
NACC2

Expression for NACC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NACC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NACC2 Gene

This gene is overexpressed in CD8 Tcells (26.9), Adipocyte (25.7), and Gallbladder (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NACC2 Gene



Protein tissue co-expression partners for NACC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NACC2 Gene:

NACC2

SOURCE GeneReport for Unigene cluster for NACC2 Gene:

Hs.112895

Evidence on tissue expression from TISSUES for NACC2 Gene

  • Skin(4.1)
  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with NACC2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NACC2 Gene

Orthologs for NACC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NACC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NACC2 34 33
  • 99.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NACC2 33 34
  • 91.67 (n)
dog
(Canis familiaris)
Mammalia NACC2 33 34
  • 91 (n)
oppossum
(Monodelphis domestica)
Mammalia NACC2 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NACC2 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nacc2 16 34 33
  • 86.36 (n)
rat
(Rattus norvegicus)
Mammalia Nacc2 33
  • 86.34 (n)
chicken
(Gallus gallus)
Aves NACC2 33 34
  • 80.79 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nacc2 33
  • 74.99 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC559520 33
  • 67.59 (n)
NACC2 34
  • 60 (a)
OneToOne
Species where no ortholog for NACC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NACC2 Gene

ENSEMBL:
Gene Tree for NACC2 (if available)
TreeFam:
Gene Tree for NACC2 (if available)

Paralogs for NACC2 Gene

(1) SIMAP similar genes for NACC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NACC2: view

Variants for NACC2 Gene

Sequence variations from dbSNP and Humsavar for NACC2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000031585 -- 136,041,058(-) G/A intron_variant
rs1000087747 -- 136,070,164(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000097752 -- 136,021,135(-) G/A intron_variant
rs1000154102 -- 136,056,199(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000214021 -- 136,058,625(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NACC2 Gene

Variant ID Type Subtype PubMed ID
dgv13000n54 CNV loss 21841781
dgv1387e199 CNV deletion 23128226
dgv4169n106 CNV deletion 24896259
dgv4170n106 CNV deletion 24896259
dgv4171n106 CNV deletion 24896259
esv1257856 CNV insertion 17803354
esv2521942 CNV insertion 19546169
esv2676603 CNV deletion 23128226
esv2739318 CNV deletion 23290073
esv2739319 CNV deletion 23290073
esv2739320 CNV deletion 23290073
esv3621998 CNV loss 21293372
esv3621999 CNV loss 21293372
esv6079 CNV loss 19470904
nsv1037172 CNV loss 25217958
nsv1075283 CNV deletion 25765185
nsv1076220 CNV deletion 25765185
nsv415932 CNV insertion 16902084
nsv415943 CNV insertion 16902084
nsv466670 CNV gain 19166990
nsv469916 CNV loss 18288195
nsv475268 CNV novel sequence insertion 20440878
nsv509332 CNV insertion 20534489
nsv525309 CNV loss 19592680
nsv525592 CNV loss 19592680
nsv615946 CNV loss 21841781
nsv6761 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv831757 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for NACC2 Gene

Gene Damage Index Score: 3.25; 52.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NACC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NACC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NACC2 Gene

Disorders for NACC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NACC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
interstitial myocarditis
fiedler's myocarditis
  • fiedler myocarditis
- elite association - COSMIC cancer census association via MalaCards
Search NACC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NACC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NACC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NACC2 Gene

Publications for NACC2 Gene

  1. RBB, a novel transcription repressor, represses the transcription of HDM2 oncogene. (PMID: 22926524) Xuan C … Shang Y (Oncogene 2013) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for NACC2 Gene

Sources for NACC2 Gene

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