Human Gene SLC2A4RG (ENST00000266077.5_4) from GENCODE V47lift37
  Description: SLC2A4 regulator (from RefSeq NM_020062.4)
Gencode Transcript: ENST00000266077.5_4
Gencode Gene: ENSG00000125520.14_8
Transcript (Including UTRs)
   Position: hg19 chr20:62,371,129-62,375,403 Size: 4,275 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr20:62,371,266-62,374,343 Size: 3,078 Coding Exon Count: 8 

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 (chr20:62,371,129-62,375,403)mRNA (may differ from genome)Protein (387 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S2A4R_HUMAN
DESCRIPTION: RecName: Full=SLC2A4 regulator; AltName: Full=GLUT4 enhancer factor; Short=GEF; AltName: Full=Huntington disease gene regulatory region-binding protein 1; Short=HDBP-1;
FUNCTION: Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5'-GCCGGCG-3'.
SUBUNIT: Interacts with MEF2A.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus.
TISSUE SPECIFICITY: According to PubMed:14630949, expressed in heart, skeletal muscle, liver, kidney and pancreas; undetectable in lung, placenta or brain. According to PubMed:14625278, ubiquitously expressed, with lowest expression in brain and ileum.
SIMILARITY: Contains 1 C2H2-type zinc finger.
SEQUENCE CAUTION: Sequence=AAH17446.1; Type=Erroneous initiation; Sequence=BAD29732.1; Type=Erroneous initiation;

-  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: SLC2A4RG
Diseases sorted by gene-association score: huntington disease (5)

-  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: 57.06 RPKM in Liver
Total median expression: 1409.43 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 -92.20137-0.673 Picture PostScript Text
3' UTR -399.301060-0.377 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q9NR83
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 Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001158 enhancer sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  BC052306 - Homo sapiens SLC2A4 regulator, mRNA (cDNA clone MGC:59731 IMAGE:6576325), complete cds.
AB052777 - Homo sapiens mRNA for zinc-finger protein 2-5, complete cds.
AF249267 - Homo sapiens GLUT4 enhancer factor mRNA, complete cds.
AB044777 - Homo sapiens Si-1-2-19 mRNA for zinc finger protein, complete cds.
AB044786 - Homo sapiens Si-1-2 mRNA for zinc finger protein, complete cds.
BC001402 - Homo sapiens SLC2A4 regulator, mRNA (cDNA clone IMAGE:3140406), partial cds.
AK298304 - Homo sapiens cDNA FLJ58270 complete cds, highly similar to SLC2A4 regulator.
BC017446 - Homo sapiens, clone IMAGE:3503958, mRNA, partial cds.
BC028349 - Homo sapiens SLC2A4 regulator, mRNA (cDNA clone IMAGE:3951740), partial cds.
JD196177 - Sequence 177201 from Patent EP1572962.
JD318754 - Sequence 299778 from Patent EP1572962.
JD290090 - Sequence 271114 from Patent EP1572962.
JD191821 - Sequence 172845 from Patent EP1572962.
JD335696 - Sequence 316720 from Patent EP1572962.
JD202032 - Sequence 183056 from Patent EP1572962.
JD410255 - Sequence 391279 from Patent EP1572962.
JD372365 - Sequence 353389 from Patent EP1572962.
JD335613 - Sequence 316637 from Patent EP1572962.
JD121059 - Sequence 102083 from Patent EP1572962.
JD393464 - Sequence 374488 from Patent EP1572962.
JD426317 - Sequence 407341 from Patent EP1572962.
JD139438 - Sequence 120462 from Patent EP1572962.
JD344374 - Sequence 325398 from Patent EP1572962.
JD319903 - Sequence 300927 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000266077.1, ENST00000266077.2, ENST00000266077.3, ENST00000266077.4, HDBP1, NM_020062, Q2PHL5, Q6F6I6, Q6F6I7, Q6GTK5, Q8TAH5, Q8WVW7, Q96QD3, Q9BV85, Q9NR83, S2A4R_HUMAN, uc317igf.1, uc317igf.2
UCSC ID: ENST00000266077.5_4
RefSeq Accession: NM_020062.4
Protein: Q9NR83 (aka S2A4R_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.