Human Gene NAB2 (ENST00000300131.8_9) from GENCODE V47lift37
  Description: NGFI-A binding protein 2, transcript variant 1 (from RefSeq NM_005967.4)
Gencode Transcript: ENST00000300131.8_9
Gencode Gene: ENSG00000166886.13_13
Transcript (Including UTRs)
   Position: hg19 chr12:57,482,897-57,489,259 Size: 6,363 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr12:57,483,055-57,488,504 Size: 5,450 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,482,897-57,489,259)mRNA (may differ from genome)Protein (525 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAB2_HUMAN
DESCRIPTION: RecName: Full=NGFI-A-binding protein 2; AltName: Full=EGR-1-binding protein 2; AltName: Full=Melanoma-associated delayed early response protein; Short=Protein MADER;
FUNCTION: Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability (By similarity).
SUBUNIT: Homomultimers may associate with EGR1 bound to DNA (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Isoform 2 is not localized to the nucleus (By similarity).
TISSUE SPECIFICITY: Widely expressed at low levels. Highly expressed in melanoma cell lines.
INDUCTION: By serum and phorbol myristate acetate (PMA) stimulation.
DOMAIN: The NAB conserved domain 1 (NCD1) interacts with EGR1 inhibitory domain and mediates multimerization.
DOMAIN: The NAB conserved domain 2 (NCD2) is necessary for transcriptional repression.
PTM: Sumoylation by EGR2 represses EGR2 transcriptional activity in hindbrain.
SIMILARITY: Belongs to the NAB family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAB2
Diseases sorted by gene-association score: hemangiopericytoma, malignant* (253), melanoma (3), meninges hemangiopericytoma (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 30.87 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 660.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.20158-0.375 Picture PostScript Text
3' UTR -274.60755-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006989 - NAB_co-repressor_dom
IPR006988 - Nab_N

Pfam Domains:
PF04904 - NAB conserved region 1 (NCD1)
PF04905 - NAB conserved region 2 (NCD2)

SCOP Domains:
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on Q15742
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042802 identical protein binding

Biological Process:
GO:0001958 endochondral ossification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007399 nervous system development
GO:0008283 cell proliferation
GO:0014037 Schwann cell differentiation
GO:0016480 negative regulation of transcription from RNA polymerase III promoter
GO:0042552 myelination
GO:0045682 regulation of epidermis development
GO:0045892 negative regulation of transcription, DNA-templated
GO:1902949 positive regulation of tau-protein kinase activity

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  LF208945 - JP 2014500723-A/16448: Polycomb-Associated Non-Coding RNAs.
LF212367 - JP 2014500723-A/19870: Polycomb-Associated Non-Coding RNAs.
BC065931 - Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2), mRNA (cDNA clone MGC:75085 IMAGE:6157017), complete cds.
AK314229 - Homo sapiens cDNA, FLJ94968, Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2)(NAB2), mRNA.
U48361 - Human NGFI-A binding protein 2 (NAB2) mRNA, complete cds.
JD180157 - Sequence 161181 from Patent EP1572962.
JD256346 - Sequence 237370 from Patent EP1572962.
JD472825 - Sequence 453849 from Patent EP1572962.
BC007756 - Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2), mRNA (cDNA clone IMAGE:4123784).
JD483197 - Sequence 464221 from Patent EP1572962.
LF213203 - JP 2014500723-A/20706: Polycomb-Associated Non-Coding RNAs.
JD525713 - Sequence 506737 from Patent EP1572962.
AB463930 - Synthetic construct DNA, clone: pF1KB7807, Homo sapiens NAB2 gene for NGFI-A binding protein 2, without stop codon, in Flexi system.
CU688106 - Synthetic construct Homo sapiens gateway clone IMAGE:100021785 5' read NAB2 mRNA.
KJ901593 - Synthetic construct Homo sapiens clone ccsbBroadEn_10987 NAB2 gene, encodes complete protein.
KJ891667 - Synthetic construct Homo sapiens clone ccsbBroadEn_01061 NAB2 gene, encodes complete protein.
LF208946 - JP 2014500723-A/16449: Polycomb-Associated Non-Coding RNAs.
X70991 - H.sapiens MADER mRNA.
LF324402 - JP 2014500723-A/131905: Polycomb-Associated Non-Coding RNAs.
MA559979 - JP 2018138019-A/131905: Polycomb-Associated Non-Coding RNAs.
MA444522 - JP 2018138019-A/16448: Polycomb-Associated Non-Coding RNAs.
MA447944 - JP 2018138019-A/19870: Polycomb-Associated Non-Coding RNAs.
MA448780 - JP 2018138019-A/20706: Polycomb-Associated Non-Coding RNAs.
MA444523 - JP 2018138019-A/16449: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAK3, ENST00000300131.1, ENST00000300131.2, ENST00000300131.3, ENST00000300131.4, ENST00000300131.5, ENST00000300131.6, ENST00000300131.7, MADER, NAB2_HUMAN, NM_005967, O76006, Q14797, Q15742, uc317mnx.1, uc317mnx.2
UCSC ID: ENST00000300131.8_9
RefSeq Accession: NM_005967.4
Protein: Q15742 (aka NAB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.