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    NAB2 NGFI-A binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 4665, updated on 10-Dec-2024

    Summary

    Official Symbol
    NAB2provided by HGNC
    Official Full Name
    NGFI-A binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:7627
    See related
    Ensembl:ENSG00000166886 MIM:602381; AllianceGenome:HGNC:7627
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MADER
    Summary
    This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 17.8), ovary (RPKM 17.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NAB2 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57089114..57095476)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57056986..57063348)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57482897..57489259)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6522 Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4571 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57485501-57485781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4572 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57488515-57489045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57489590-57490426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57493803-57494325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57495608-57496108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57496109-57496609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57521273-57521926 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57527325-57528080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57540016-57540944 Neighboring gene LDL receptor related protein 1 Neighboring gene LRP1 antisense RNA

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (35 hits/1272 screens)

    EBI GWAS Catalog

    Description
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NGFI-A binding protein 2 (NAB2; EGR1 binding protein 2; MADER) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC75085

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding PubMed 
    enables protein binding PubMed 
    enables transcription coregulator activity  
    enables transcription corepressor activity PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm  
    is_active_in nucleus  

    General protein information

    Preferred Names
    NGFI-A-binding protein 2
    Names
    EGR1 binding protein 2
    melanoma-associated delayed early response protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330305.2NP_001317234.1  NGFI-A-binding protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter, but has the same N- and C-termini as isoform 1.
      Source sequence(s)
      BC065931, BQ956141
      Consensus CDS
      CCDS81701.1
      UniProtKB/Swiss-Prot
      Q15742
      Related
      ENSP00000341491.6, ENST00000342556.6
      Conserved Domains (2) summary
      pfam04905
      Location:237363
      NCD2; NAB conserved region 2 (NCD2)
      pfam04904
      Location:37114
      NCD1; NAB conserved region 1 (NCD1)
    2. NM_005967.4NP_005958.1  NGFI-A-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_005958.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC065931
      Consensus CDS
      CCDS8930.1
      UniProtKB/Swiss-Prot
      B2RAK3, O76006, Q14797, Q15742
      Related
      ENSP00000300131.3, ENST00000300131.8
      Conserved Domains (2) summary
      pfam04904
      Location:36114
      NCD1; NAB conserved region 1 (NCD1)
      pfam04905
      Location:237363
      NCD2; NAB conserved region 2 (NCD2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57089114..57095476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57056986..57063348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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