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SLC2A4RG SLC2A4 regulator [ Homo sapiens (human) ]

Gene ID: 56731, updated on 11-Jun-2021

Summary

Official Symbol
SLC2A4RGprovided by HGNC
Official Full Name
SLC2A4 regulatorprovided by HGNC
Primary source
HGNC:HGNC:15930
See related
Ensembl:ENSG00000125520 MIM:609493
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
GEF; HDBP1; HDBP-1; Si-1-2; Si-1-2-19
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 45.9), kidney (RPKM 36.7) and 25 other tissues See more
Orthologs
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Genomic context

See SLC2A4RG in Genome Data Viewer
Location:
20q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (63739776..63744050)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62371129..62375403)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor related protein 1 Neighboring gene zinc finger CCCH-type and G-patch domain containing Neighboring gene LIME1 eExon liver enhancer Neighboring gene Lck interacting transmembrane adaptor 1 Neighboring gene zinc finger and BTB domain containing 46 Neighboring gene ZBTB46 antisense RNA 1 Neighboring gene chromosome 20 open reading frame 181

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
SLC2A4 regulator
Names
GLUT4 enhancer factor
Huntington's disease gene regulatory region-binding protein 1

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.

Genomic

  1. NG_046992.1 RefSeqGene

    Range
    4919..9193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020062.4NP_064446.2  SLC2A4 regulator

    See identical proteins and their annotated locations for NP_064446.2

    Status: REVIEWED

    Source sequence(s)
    AL121845, AV659783, BC028349, BC052306, BM983611
    Consensus CDS
    CCDS13537.1
    UniProtKB/Swiss-Prot
    Q9NR83
    Related
    ENSP00000266077.2, ENST00000266077.5
    Conserved Domains (1) summary
    PRK12323
    Location:2198
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    63739776..63744050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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