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

Gene ID: 4665, updated on 1-Jun-2020

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

Genomic context

See NAB2 in Genome Data Viewer
Location:
12q13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57089114..57095476)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57482677..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

NHGRI GWAS Catalog

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

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

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
    pfam04904
    Location:37114
    NCD1; NAB conserved region 1 (NCD1)
    pfam04905
    Location:237364
    NCD2; NAB conserved region 2 (NCD2)
  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:37114
    NCD1; NAB conserved region 1 (NCD1)
    pfam04905
    Location:237364
    NCD2; NAB conserved region 2 (NCD2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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