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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 AMP-activated Protein Kinase (AMPK) Signaling. 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

Additional gene information for SLC2A4RG Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H063694 1.5 Ensembl ENCODE dbSUPER 13.2 -42.1 -42098 7 HNRNPUL1 MLX GLIS2 ZNF207 FOS RUNX3 PAF1 SP3 SP5 MXD4 RTEL1 DIDO1 LIME1 CICP4 PRPF6 GMEB2 UCKL1 YTHDF1 MIR647 SLC2A4RG
GH20H063680 1.5 Ensembl ENCODE dbSUPER 12.3 -52.6 -52556 13 HDGF PKNOX1 ZFP64 SIN3A ZBTB7B GLIS2 ELK1 FOS ZNF548 DEK LIME1 RTEL1 DIDO1 MIR647 UCKL1 ENSG00000237371 ZGPAT SLC2A4RG ENSG00000229299 FNDC11
GH20H063863 1.4 ENCODE dbSUPER 11.2 +125.0 125014 3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC PPARGC1A DIDO1 PRPF6 GMEB2 CICP4 ENSG00000237371 UCKL1 RTEL1 MIR647 ARFRP1 DNAJC5
GH20H063786 1.1 Ensembl ENCODE 11.9 +46.6 46643 0 HDGF FOXA2 ARID4B ZNF2 ZSCAN9 RAD21 SLC30A9 ZNF143 RUNX3 THAP11 LIME1 ZBTB46 C20orf181 ENSG00000229299 SLC2A4RG ZGPAT DNAJC5 PIR46452 PIR49937
GH20H063884 1 ENCODE dbSUPER 10.8 +145.2 145153 1 GTF2F1 SIN3A EBF1 RFX5 HIC1 SCRT2 ATF7 RUNX3 ZNF687 NR2F1 MIR941-2 MIR941-4 RNU1-134P ZNF512B SAMD10 PRPF6 ENSG00000229299 ZBTB46 SLC2A4RG LIME1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000139949 342 2001 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9

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

Post-translational modifications for SLC2A4RG Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC2A4RG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC2A4RG Gene

Domains & Families for SLC2A4RG Gene

Gene Families for SLC2A4RG Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SLC2A4RG Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC2A4RG Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SLC2A4RG Gene

Gene Ontology (GO) - Molecular Function for SLC2A4RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001158 enhancer sequence-specific DNA binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 10825161
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SLC2A4RG: view
genes like me logo Genes that share phenotypes with SLC2A4RG: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC2A4RG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC2A4RG gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC2A4RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,IBA 10825161
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with SLC2A4RG: view

Pathways & Interactions for SLC2A4RG Gene

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://version10.5.string-db.org/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 IID

Gene Ontology (GO) - Biological Process for SLC2A4RG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10825161
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
genes like me logo Genes that share ontologies with SLC2A4RG: view

No data available for SIGNOR curated interactions for SLC2A4RG Gene

Drugs & Compounds for SLC2A4RG Gene

(1) Drugs for SLC2A4RG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SLC2A4RG: view

Transcripts for SLC2A4RG Gene

Unigene Clusters for SLC2A4RG Gene

SLC2A4 regulator:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC2A4RG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SLC2A4RG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC2A4RG Gene:

SLC2A4RG

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.

Evidence on tissue expression from TISSUES for SLC2A4RG Gene

  • Muscle(4.6)
  • Liver(4.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SLC2A4RG: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC2A4RG 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia SLC2A4RG 33 34
  • 82.3 (n)
cow
(Bos Taurus)
Mammalia SLC2A4RG 33 34
  • 82.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC2A4RG 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC2A4RG 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC2A4RG 34
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii SLC2A4RG 34
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Glut4EF 34
  • 11 (a)
OneToMany
Species where no ortholog for SLC2A4RG was found in the sources mined by GeneCards:
  • 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
rs193920971 Uncertain significance 63,742,886(+) AGCCC(A/C/T)GCGGC reference, missense
rs1000571128 -- 63,741,105(+) CCAGC(C/T)CCAGT intron-variant
rs1001612819 -- 63,741,637(+) AAGCG(G/T)CAGGA intron-variant
rs1002346763 -- 63,740,364(+) CCCCC(A/T)CCCCA intron-variant
rs1002692479 -- 63,740,914(+) GGCTC(A/G)CTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv523n27 CNV loss 19166990
dgv7679n54 CNV gain 21841781
dgv7680n54 CNV gain 21841781
dgv7682n54 CNV loss 21841781
dgv7683n54 CNV gain+loss 21841781
dgv7684n54 CNV loss 21841781
esv2722959 CNV deletion 23290073
esv2758806 CNV gain+loss 17122850
esv29394 CNV loss 19812545
esv7227 CNV loss 19470904
nsv1059142 CNV gain 25217958
nsv1072557 CNV deletion 25765185
nsv1160690 CNV deletion 26073780
nsv428381 CNV gain+loss 18775914
nsv470563 CNV loss 18288195
nsv586614 CNV gain 21841781
nsv586615 CNV gain 21841781
nsv586618 CNV gain 21841781
nsv586633 CNV loss 21841781
nsv586643 CNV gain 21841781
nsv586644 CNV gain 21841781
nsv828802 CNV loss 20364138
nsv828803 CNV gain 20364138
nsv953308 CNV deletion 24416366

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)

Relevant External Links for SLC2A4RG Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC2A4RG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • huntington's disease
- 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. Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome. (PMID: 18249389) Jones MR … Stuckey BG (Fertility and sterility 2008) 3 22 45 60
  2. 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 JE (The Journal of biological chemistry 2004) 3 4 22 60
  3. Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A. (PMID: 14630949) Knight JB … Olson AL (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 60
  4. 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 KM … Olson AL (The Journal of biological chemistry 2000) 2 3 4 60
  5. GLUT4 enhancer factor (GEF) interacts with MEF2A and HDAC5 to regulate the GLUT4 promoter in adipocytes. (PMID: 18216015) Sparling DP … Olson AL (The Journal of biological chemistry 2008) 3 22 60

Products for SLC2A4RG Gene

Sources for SLC2A4RG Gene

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