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

    Gene ID: 4665, updated on 8-Jul-2021

    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
    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
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57089114..57095476)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57482897..57489259)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin IA Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene LDL receptor related protein 1 Neighboring gene LRP1 antisense RNA Neighboring gene microRNA 1228

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    GeneReviews: Not available

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC75085

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Schwann cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase III IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tau-protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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