Aliases for SLC5A9 Gene

Aliases for SLC5A9 Gene

  • Solute Carrier Family 5 Member 9 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 9 2 3
  • Solute Carrier Family 5 (Sodium/Sugar Cotransporter), Member 9 2 3
  • Sodium/Glucose Cotransporter 4 3 4
  • Na(+)/Glucose Cotransporter 4 3 4
  • HSGLT4 3 4
  • SGLT4 3 4

External Ids for SLC5A9 Gene

Previous GeneCards Identifiers for SLC5A9 Gene

  • GC01P048059
  • GC01P048400
  • GC01P048688
  • GC01P046806

Summaries for SLC5A9 Gene

GeneCards Summary for SLC5A9 Gene

SLC5A9 (Solute Carrier Family 5 Member 9) is a Protein Coding gene. Diseases associated with SLC5A9 include Benign Familial Infantile Epilepsy. Among its related pathways are Hexose transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is SLC5A1.

UniProtKB/Swiss-Prot Summary for SLC5A9 Gene

  • Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.

Additional gene information for SLC5A9 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A9 Gene

Genomics for SLC5A9 Gene

GeneHancer (GH) Regulatory Elements for SLC5A9 Gene

Promoters and enhancers for SLC5A9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J048221 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 518.7 +0.9 899 3.7 EP300 POLR2G NCOR1 KDM6A RBM25 FOXA2 CEBPB TBP SAP130 MYRF SLC5A9 ENSG00000272491 SKINT1L
GH01J048211 Promoter 0.3 EPDnew 510.2 -11.2 -11164 0.1 SLC5A9 lnc-SLC5A9-4 piR-37567-004 piR-41245-004
GH01J048241 Enhancer 0.9 FANTOM5 Ensembl ENCODE 27.2 +22.2 22231 7.8 SPI1 NR2F2 GATA3 ATF2 MAX EGR1 SP1 SLC5A9 ENSG00000272491 SKINT1L ENSG00000279214
GH01J048468 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.4 +248.8 248822 4.2 HNRNPK NRF1 POLR2G PHF8 ZNF10 ZBTB10 POLR2A ZNF423 ZBTB26 RFX1 SPATA6 lnc-AGBL4-8 ENSG00000272491 SLC5A9 RF00015-002 RNU4-61P
GH01J048227 Enhancer 0.8 Ensembl ENCODE 16.6 +6.0 6031 3.8 CTCF SPI1 ZFHX2 STAT5A RAD21 SMARCA4 NFATC1 PBX3 BCL3 EGR2 ENSG00000272491 SLC5A9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A9 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A9

Top Transcription factor binding sites by QIAGEN in the SLC5A9 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • HEN1
  • MyoD
  • NF-E2
  • NF-E2 p45
  • PPAR-gamma1
  • PPAR-gamma2
  • TGIF

Genomic Locations for SLC5A9 Gene

Genomic Locations for SLC5A9 Gene
chr1:48,222,270-48,248,644
(GRCh38/hg38)
Size:
26,375 bases
Orientation:
Plus strand
chr1:48,688,357-48,714,316
(GRCh37/hg19)
Size:
25,960 bases
Orientation:
Plus strand

Genomic View for SLC5A9 Gene

Genes around SLC5A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A9 Gene

Proteins for SLC5A9 Gene

  • Protein details for SLC5A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M3M2-SC5A9_HUMAN
    Recommended name:
    Sodium/glucose cotransporter 4
    Protein Accession:
    Q2M3M2
    Secondary Accessions:
    • B3KY87
    • B7ZL45
    • B7ZL47
    • E9PAK4
    • E9PJ08
    • Q5TET3

    Protein attributes for SLC5A9 Gene

    Size:
    681 amino acids
    Molecular mass:
    74073 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC5A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC5A9 Gene

Post-translational modifications for SLC5A9 Gene

  • Glycosylation at Asn251
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC5A9 Gene

Domains & Families for SLC5A9 Gene

Gene Families for SLC5A9 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC5A9 Gene

Blocks:
  • Na+/solute symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58067, highly similar to Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), mRNA (B4DJL5_HUMAN)
  • SLC5A9 protein (B7ZL45_HUMAN)
  • Solute carrier family 5 (Sodium/glucose cotransporter), member 9 (B7ZL47_HUMAN)
  • Solute carrier family 5 member 9 (SC5A9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M3M2

UniProtKB/Swiss-Prot:

SC5A9_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A9: view

Function for SLC5A9 Gene

Molecular function for SLC5A9 Gene

UniProtKB/Swiss-Prot Function:
Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.

Gene Ontology (GO) - Molecular Function for SLC5A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005362 low-affinity glucose:sodium symporter activity TAS --
GO:0005412 glucose:sodium symporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A9: view
genes like me logo Genes that share phenotypes with SLC5A9: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A9

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC5A9 Gene

Localization for SLC5A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A9 Gene

Membrane; Multi-pass membrane protein.

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 SLC5A9 gene
Compartment Confidence
plasma membrane 4
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC5A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SLC5A9: view

Pathways & Interactions for SLC5A9 Gene

genes like me logo Genes that share pathways with SLC5A9: view

Pathways by source for SLC5A9 Gene

1 BioSystems pathway for SLC5A9 Gene

Interacting Proteins for SLC5A9 Gene

;

Gene Ontology (GO) - Biological Process for SLC5A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0008645 hexose transmembrane transport TAS --
GO:0055085 transmembrane transport IEA --
GO:1904659 glucose transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC5A9: view

No data available for SIGNOR curated interactions for SLC5A9 Gene

Drugs & Compounds for SLC5A9 Gene

(3) Drugs for SLC5A9 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Canagliflozin Approved Pharma Inhibition, Inhibitor SGLT2 inhibitor,potent and selective 132
Hypoglycemic Agents Pharma 7644
Sodium-Glucose Transporter 2 Inhibitors Pharma 707

(1) Additional Compounds for SLC5A9 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A9: view

Transcripts for SLC5A9 Gene

mRNA/cDNA for SLC5A9 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A9 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18
SP1: - - - -
SP2: - - - - -
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for SLC5A9 Gene

GeneLoc Exon Structure for
SLC5A9

Expression for SLC5A9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC5A9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC5A9 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x18.0), Kidney - Cortex (x7.8), and Liver (x4.4).

Protein differential expression in normal tissues from HIPED for SLC5A9 Gene

This gene is overexpressed in Bone marrow stromal cell (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC5A9 Gene



Protein tissue co-expression partners for SLC5A9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A9

SOURCE GeneReport for Unigene cluster for SLC5A9 Gene:

Hs.37890

mRNA Expression by UniProt/SwissProt for SLC5A9 Gene:

Q2M3M2-SC5A9_HUMAN
Tissue specificity: Expressed in the small intestine, kidney and liver.

Evidence on tissue expression from TISSUES for SLC5A9 Gene

  • Intestine(4.5)
  • Liver(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with SLC5A9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A9 Gene

Orthologs for SLC5A9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC5A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A9 31 30
  • 99.24 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc5a9 30
  • 86.67 (n)
cow
(Bos Taurus)
Mammalia SLC5A9 31 30
  • 86.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A9 31 30
  • 85.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a9 17 31 30
  • 84.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A9 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves SLC5A9 31 30
  • 72.09 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC5A9 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a9 30
  • 66.93 (n)
Str.1258 30
zebrafish
(Danio rerio)
Actinopterygii slc5a9 31 30
  • 68.7 (n)
OneToOne
Species where no ortholog for SLC5A9 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC5A9 Gene

ENSEMBL:
Gene Tree for SLC5A9 (if available)
TreeFam:
Gene Tree for SLC5A9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A9: view image

Paralogs for SLC5A9 Gene

(6) SIMAP similar genes for SLC5A9 Gene using alignment to 7 proteins:

  • SC5A9_HUMAN
  • B4DJL5_HUMAN
  • B7ZL45_HUMAN
  • E9PJ08_HUMAN
  • F8WD86_HUMAN
  • H0Y5P9_HUMAN
  • H0YC92_HUMAN
genes like me logo Genes that share paralogs with SLC5A9: view

Variants for SLC5A9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A9 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs149485404 Uncertain Significance: not provided 48,228,955(+) G/A SPLICE_DONOR_VARIANT
rs12047252 - p.Met207Thr
rs141515954 - p.Val124Ile
rs212989 - p.Val152Met
rs212991 - p.Ile269Met

Additional dbSNP identifiers (rs#s) for SLC5A9 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC5A9 Gene

Variant ID Type Subtype PubMed ID
esv3578249 CNV gain 25503493
esv4009 CNV loss 18987735
nsv1011588 CNV gain 25217958

Variation tolerance for SLC5A9 Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.77; 95.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC5A9 Gene

Human Gene Mutation Database (HGMD)
SLC5A9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A9 Gene

Disorders for SLC5A9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC5A9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
benign familial infantile epilepsy
  • benign familial infantile convulsion
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC5A9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC5A9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC5A9 Gene

Publications for SLC5A9 Gene

  1. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41 54
  2. SLC5A9/SGLT4, a new Na+-dependent glucose transporter, is an essential transporter for mannose, 1,5-anhydro-D-glucitol, and fructose. (PMID: 15607332) Tazawa S … Isaji M (Life sciences 2005) 3 4 54
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales PA … Knepper MA (Journal of the American Society of Nephrology : JASN 2009) 3 54

Products for SLC5A9 Gene

Sources for SLC5A9 Gene