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

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors.
Title: NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors.
Analysis of clinicopathological features and NAB2-STAT6 fusion variants of meningeal solitary fibrous tumor with ectopic salivary gland components in the cerebellopontine angle.
Title: Analysis of clinicopathological features and NAB2-STAT6 fusion variants of meningeal solitary fibrous tumor with ectopic salivary gland components in the cerebellopontine angle.
Teratocarcinosarcoma-Like and Adamantinoma-Like Head and Neck Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary Fibrous Tumor or Novel Tumor Entities?
Title: Teratocarcinosarcoma-Like and Adamantinoma-Like Head and Neck Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary Fibrous Tumor or Novel Tumor Entities?
Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour.
Title: Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour.
Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation.
Title: Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation.
NAB2-STAT6 fusion protein mediates cell proliferation and oncogenic progression via EGR-1 regulation.
Title: NAB2-STAT6 fusion protein mediates cell proliferation and oncogenic progression via EGR-1 regulation.
Gene Expression in Solitary Fibrous Tumors (SFTs) Correlates with Anatomic Localization and NAB2-STAT6 Gene Fusion Variants.
Title: Gene Expression in Solitary Fibrous Tumors (SFTs) Correlates with Anatomic Localization and NAB2-STAT6 Gene Fusion Variants.
NAB2-STAT6 fusion type was not significantly associated with recurrence-free or overall survival, but was associated with phenotype
Title: The impact of histopathology and NAB2-STAT6 fusion subtype in classification and grading of meningeal solitary fibrous tumor/hemangiopericytoma.
Study characterized sequences in NAB2 that mediate its nuclear localization and determined that the KKXK motif that aligns with the NAB1 KRXK motif is necessary for NAB2 nuclear localization, while the K(X2)R motif situated 11 residues upstream is not.
Title: Refining the nuclear localization signal within the Egr transcriptional coregulator NAB2.
Here, we demonstrate that pulmonary adenofibromas are neoplastic lesions harbouring NAB2-STAT6 fusion genes ,the molecular hallmark of solitary fibrous tumours.
Title: Recurrent NAB2-STAT6 gene fusions and oestrogen receptor-α expression in pulmonary adenofibromas.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NAB2_2330 (e-PCR)
- UniSTS:280863

G32703 (e-PCR)
- UniSTS:117285

G54117 (e-PCR)
- UniSTS:109354

STS-X70991 (e-PCR)
- UniSTS:30515

PMC140827P3 (e-PCR)
- UniSTS:270981

WI-19169 (e-PCR)
- UniSTS:49107

A009O16 (e-PCR)
- UniSTS:77301

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
enables transcription corepressor activity	TAS Traceable Author Statement 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 regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epidermis development	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: NGFI-A-binding protein 2

Names: EGR1 binding protein 2; melanoma-associated delayed early response protein

NCBI Reference Sequences (RefSeq)

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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)

NM_001330305.2 → NP_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:237 → 363

NCD2; NAB conserved region 2 (NCD2)

pfam04904
Location:37 → 114

NCD1; NAB conserved region 1 (NCD1)
NM_005967.4 → NP_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:36 → 114

NCD1; NAB conserved region 1 (NCD1)

pfam04905
Location:237 → 363

NCD2; NAB conserved region 2 (NCD2)