Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC2A4RG Gene

Aliases for SLC2A4RG Gene

  • SLC2A4 Regulator 2 3 5
  • GLUT4 Enhancer Factor 2 3 4
  • Huntingtons Disease Gene Regulatory Region-Binding Protein 1 2 3
  • HDBP-1 3 4
  • HDBP1 3 4
  • GEF 3 4
  • Huntington Disease Gene Regulatory Region-Binding Protein 1 4
  • Si-1-2-19 3
  • Si-1-2 3

External Ids for SLC2A4RG Gene

Previous GeneCards Identifiers for SLC2A4RG Gene

  • GC20P062248
  • GC20P063050
  • GC20P063097
  • GC20P061841
  • GC20P062369
  • GC20P059104

Summaries for SLC2A4RG Gene

Entrez Gene Summary for SLC2A4RG Gene

  • The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC2A4RG Gene

SLC2A4RG (SLC2A4 Regulator) is a Protein Coding gene. Diseases associated with SLC2A4RG include Huntington Disease. Among its related pathways are AMPK signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZNF395.

UniProtKB/Swiss-Prot for SLC2A4RG Gene

  • Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5-GCCGGCG-3.

Gene Wiki entry for SLC2A4RG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC2A4RG Gene

Genomics for SLC2A4RG Gene

Regulatory Elements for SLC2A4RG Gene

Enhancers for SLC2A4RG Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC2A4RG on UCSC Golden Path with GeneCards custom track

Promoters for SLC2A4RG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC2A4RG on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC2A4RG Gene

Chromosome:
20
Start:
63,739,858 bp from pter
End:
63,744,050 bp from pter
Size:
4,193 bases
Orientation:
Plus strand

Genomic View for SLC2A4RG Gene

Genes around SLC2A4RG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC2A4RG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC2A4RG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC2A4RG Gene

Proteins for SLC2A4RG Gene

  • Protein details for SLC2A4RG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR83-S2A4R_HUMAN
    Recommended name:
    SLC2A4 regulator
    Protein Accession:
    Q9NR83
    Secondary Accessions:
    • Q2PHL5
    • Q6F6I6
    • Q6F6I7
    • Q6GTK5
    • Q8TAH5
    • Q8WVW7
    • Q96QD3
    • Q9BV85

    Protein attributes for SLC2A4RG Gene

    Size:
    387 amino acids
    Molecular mass:
    41267 Da
    Quaternary structure:
    • Interacts with MEF2A.
    SequenceCaution:
    • Sequence=AAH17446.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD29732.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC2A4RG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC2A4RG Gene

Proteomics data for SLC2A4RG Gene at MOPED

Post-translational modifications for SLC2A4RG Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC2A4RG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC2A4RG Gene

Domains & Families for SLC2A4RG Gene

Protein Domains for SLC2A4RG Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC2A4RG Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR83

UniProtKB/Swiss-Prot:

S2A4R_HUMAN :
  • Contains 1 C2H2-type zinc finger.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with SLC2A4RG: view

No data available for Gene Families for SLC2A4RG Gene

Function for SLC2A4RG Gene

Molecular function for SLC2A4RG Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in SLC2A4 and HD gene transactivation. Binds to the consensus sequence 5-GCCGGCG-3.
genes like me logo Genes that share phenotypes with SLC2A4RG: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC2A4RG Gene

Localization for SLC2A4RG Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC2A4RG Gene

Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC2A4RG Gene COMPARTMENTS Subcellular localization image for SLC2A4RG gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SLC2A4RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SLC2A4RG: view

Pathways & Interactions for SLC2A4RG Gene

SuperPathways for SLC2A4RG Gene

Superpath Contained pathways
1 AMPK signaling pathway
genes like me logo Genes that share pathways with SLC2A4RG: view

Pathways by source for SLC2A4RG Gene

1 BioSystems pathway for SLC2A4RG Gene

Interacting Proteins for SLC2A4RG Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000266077%0d%0a9606.ENSP00000225983%0d%0a
Selected Interacting proteins: ENSP00000266077 Q9NR83-S2A4R_HUMAN for SLC2A4RG Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SLC2A4RG Gene

None

No data available for SIGNOR curated interactions for SLC2A4RG Gene

Drugs & Compounds for SLC2A4RG Gene

(1) Additional Compounds for SLC2A4RG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC2A4RG: view

Transcripts for SLC2A4RG Gene

Unigene Clusters for SLC2A4RG Gene

SLC2A4 regulator:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A4RG Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SLC2A4RG Gene

GeneLoc Exon Structure for
SLC2A4RG
ECgene alternative splicing isoforms for
SLC2A4RG

Expression for SLC2A4RG Gene

mRNA expression in normal human tissues for SLC2A4RG Gene

Protein differential expression in normal tissues from HIPED for SLC2A4RG Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC2A4RG Gene



SOURCE GeneReport for Unigene cluster for SLC2A4RG Gene Hs.435126

mRNA Expression by UniProt/SwissProt for SLC2A4RG Gene

Q9NR83-S2A4R_HUMAN
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.
genes like me logo Genes that share expression patterns with SLC2A4RG: view

Protein tissue co-expression partners for SLC2A4RG Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SLC2A4RG Gene

Orthologs for SLC2A4RG Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC2A4RG Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC2A4RG 35
  • 82.03 (n)
  • 78.44 (a)
SLC2A4RG 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC2A4RG 35
  • 82.3 (n)
  • 79.64 (a)
SLC2A4RG 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC2A4RG 35
  • 98.97 (n)
  • 99.48 (a)
SLC2A4RG 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC2A4RG 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC2A4RG 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC2A4RG 36
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC2A4RG 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Glut4EF 36
  • 11 (a)
OneToMany
Species with no ortholog for SLC2A4RG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC2A4RG Gene

ENSEMBL:
Gene Tree for SLC2A4RG (if available)
TreeFam:
Gene Tree for SLC2A4RG (if available)

Paralogs for SLC2A4RG Gene

Paralogs for SLC2A4RG Gene

(2) SIMAP similar genes for SLC2A4RG Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC2A4RG: view

Variants for SLC2A4RG Gene

Sequence variations from dbSNP and Humsavar for SLC2A4RG Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs8957 - 63,742,354(-) CTCTG(A/C)TCAGG reference, missense
rs6742 -- 63,743,088(+) CTGGC(C/T)TTCAC utr-variant-3-prime
rs7996 -- 63,742,743(-) GCTCC(A/G)ACCTC reference, synonymous-codon
rs1046614 -- 63,742,328(+) GTGTC(A/T)CCCGC intron-variant
rs1046616 -- 63,742,331(+) TCTCC(C/T)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC2A4RG Gene

Variant ID Type Subtype PubMed ID
dgv4618n71 CNV Loss 21882294
nsv913190 CNV Loss 21882294
dgv1344e1 CNV Complex 17122850
nsv913213 CNV Loss 21882294
nsv470563 CNV Loss 18288195
dgv4644n71 CNV Loss 21882294
dgv1345e1 CNV Complex 17122850
nsv428381 CNV Gain+Loss 18775914
nsv913241 CNV Loss 21882294
dgv4645n71 CNV Loss 21882294
dgv4647n71 CNV Loss 21882294
nsv913249 CNV Loss 21882294
nsv913250 CNV Loss 21882294
nsv913255 CNV Gain 21882294
esv7227 CNV Loss 19470904
esv2722959 CNV Deletion 23290073
nsv913256 CNV Loss 21882294
dgv4648n71 CNV Loss 21882294
nsv913258 CNV Loss 21882294
dgv4649n71 CNV Loss 21882294
dgv4650n71 CNV Loss 21882294
dgv4651n71 CNV Loss 21882294
esv29394 CNV Loss 19812545
dgv523n27 CNV Loss 19166990
nsv913266 CNV Gain 21882294
nsv828802 CNV Loss 20364138
nsv828803 CNV Gain 20364138

Variation tolerance for SLC2A4RG Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.30% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SLC2A4RG Gene

Disorders for SLC2A4RG Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC2A4RG Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC2A4RG

Genetic Association Database (GAD)
SLC2A4RG
Human Genome Epidemiology (HuGE) Navigator
SLC2A4RG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC2A4RG
genes like me logo Genes that share disorders with SLC2A4RG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC2A4RG Gene

Publications for SLC2A4RG Gene

  1. Identification of a 30-base pair regulatory element and novel DNA binding protein that regulates the human GLUT4 promoter in transgenic mice. (PMID: 10825161) Oshel K.M. … Olson A.L. (J. Biol. Chem. 2000) 2 3 4 67
  2. GLUT4 enhancer factor (GEF) interacts with MEF2A and HDAC5 to regulate the GLUT4 promoter in adipocytes. (PMID: 18216015) Sparling D.P. … Olson A.L. (J. Biol. Chem. 2008) 3 23
  3. Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome. (PMID: 18249389) Jones M.R. … Stuckey B.G. (Fertil. Steril. 2008) 3 23
  4. Exercise increases MEF2- and GEF DNA-binding activity in human skeletal muscle. (PMID: 16368714) McGee S.L. … Hargreaves M. (FASEB J. 2006) 3 23
  5. Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene. (PMID: 14625278) Tanaka K. … Ikeda J.-E. (J. Biol. Chem. 2004) 3 23

Products for SLC2A4RG Gene

Sources for SLC2A4RG Gene

Content