Aliases for SLC38A11 Gene

Aliases for SLC38A11 Gene

  • Solute Carrier Family 38 Member 11 2 3 4 5
  • Putative Sodium-Coupled Neutral Amino Acid Transporter 11 3 4
  • AVT2 3 4
  • Solute Carrier Family 38, Member 11 2

External Ids for SLC38A11 Gene

Previous GeneCards Identifiers for SLC38A11 Gene

  • GC02M165464
  • GC02M165754
  • GC02M157637

Summaries for SLC38A11 Gene

GeneCards Summary for SLC38A11 Gene

SLC38A11 (Solute Carrier Family 38 Member 11) is a Protein Coding gene. Diseases associated with SLC38A11 include Fucosidosis and Spherocytosis, Type 1. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A3.

UniProtKB/Swiss-Prot Summary for SLC38A11 Gene

Additional gene information for SLC38A11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC38A11 Gene

Genomics for SLC38A11 Gene

GeneHancer (GH) Regulatory Elements for SLC38A11 Gene

Promoters and enhancers for SLC38A11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC38A11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC38A11

Top Transcription factor binding sites by QIAGEN in the SLC38A11 gene promoter:
  • AML1a
  • C/EBPalpha
  • CHOP-10
  • CP2
  • Evi-1
  • FOXL1
  • Nkx2-5
  • POU3F1
  • RORalpha1

Genomic Locations for SLC38A11 Gene

Genomic Locations for SLC38A11 Gene
chr2:164,896,186-164,955,560
(GRCh38/hg38)
Size:
59,375 bases
Orientation:
Minus strand
chr2:165,752,696-165,812,035
(GRCh37/hg19)
Size:
59,340 bases
Orientation:
Minus strand

Genomic View for SLC38A11 Gene

Genes around SLC38A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC38A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC38A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC38A11 Gene

Proteins for SLC38A11 Gene

  • Protein details for SLC38A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08AI6-S38AB_HUMAN
    Recommended name:
    Putative sodium-coupled neutral amino acid transporter 11
    Protein Accession:
    Q08AI6
    Secondary Accessions:
    • B4DF99
    • Q8N887

    Protein attributes for SLC38A11 Gene

    Size:
    406 amino acids
    Molecular mass:
    44825 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC38A11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC38A11 Gene

Post-translational modifications for SLC38A11 Gene

  • Glycosylation at Asn44 and Asn275
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC38A11 Gene

Domains & Families for SLC38A11 Gene

Gene Families for SLC38A11 Gene

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

Protein Domains for SLC38A11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC38A11 Gene

GenScript: Design optimal peptide antigens:
  • Putative sodium-coupled neutral amino acid transporter 11 (S38AB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08AI6

UniProtKB/Swiss-Prot:

S38AB_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC38A11: view

Function for SLC38A11 Gene

Molecular function for SLC38A11 Gene

UniProtKB/Swiss-Prot Function:
Putative sodium-dependent amino acid/proton antiporter.

Phenotypes From GWAS Catalog for SLC38A11 Gene

Gene Ontology (GO) - Molecular Function for SLC38A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC38A11: view
genes like me logo Genes that share phenotypes with SLC38A11: view

Animal Models for SLC38A11 Gene

MGI Knock Outs for SLC38A11:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC38A11

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC38A11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC38A11 Gene

Localization for SLC38A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC38A11 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 SLC38A11 gene
Compartment Confidence
plasma membrane 3
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC38A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC38A11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC38A11 Gene

Pathways & Interactions for SLC38A11 Gene

PathCards logo

SuperPathways for SLC38A11 Gene

No Data Available

Interacting Proteins for SLC38A11 Gene

;

Gene Ontology (GO) - Biological Process for SLC38A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006865 amino acid transport IEA --
genes like me logo Genes that share ontologies with SLC38A11: view

No data available for Pathways by source and SIGNOR curated interactions for SLC38A11 Gene

Drugs & Compounds for SLC38A11 Gene

(1) Additional Compounds for SLC38A11 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 SLC38A11: view

Transcripts for SLC38A11 Gene

mRNA/cDNA for SLC38A11 Gene

6 REFSEQ mRNAs :
4 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 SLC38A11

Alternative Splicing Database (ASD) splice patterns (SP) for SLC38A11 Gene

No ASD Table

Relevant External Links for SLC38A11 Gene

GeneLoc Exon Structure for
SLC38A11

Expression for SLC38A11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC38A11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC38A11

SOURCE GeneReport for Unigene cluster for SLC38A11 Gene:

Hs.658702

Evidence on tissue expression from TISSUES for SLC38A11 Gene

  • Spleen(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SLC38A11: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC38A11 Gene

Orthologs for SLC38A11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC38A11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC38A11 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC38A11 31 30
  • 88.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC38A11 31 30
  • 87.85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc38a11 17 31 30
  • 84.56 (n)
rat
(Rattus norvegicus)
Mammalia Slc38a11 30
  • 82.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SLC38A11 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC38A11 31 30
  • 72.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC38A11 31
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc38a11 30
  • 66.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536170 30
  • 61.2 (n)
slc38a11 31 31
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005983 30
  • 47.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13743 31 30
  • 45.66 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT2 33 31 30
  • 45.45 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR671W 30
  • 44.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02277g 30
  • 43.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01481 30
  • 47.48 (n)
Species where no ortholog for SLC38A11 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 SLC38A11 Gene

ENSEMBL:
Gene Tree for SLC38A11 (if available)
TreeFam:
Gene Tree for SLC38A11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC38A11: view image

Paralogs for SLC38A11 Gene

genes like me logo Genes that share paralogs with SLC38A11: view

Variants for SLC38A11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC38A11 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
786867 Benign: not provided 164,915,282(-) C/CA INTRON_VARIANT
rs4564790 - p.Ala194Thr

Additional dbSNP identifiers (rs#s) for SLC38A11 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC38A11 Gene

Variant ID Type Subtype PubMed ID
nsv834444 CNV gain 17160897

Variation tolerance for SLC38A11 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC38A11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC38A11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC38A11 Gene

Disorders for SLC38A11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC38A11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fucosidosis
  • alpha-l-fucosidase deficiency
spherocytosis, type 1
  • sph1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC38A11

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 SLC38A11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC38A11 Gene

Publications for SLC38A11 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. (PMID: 25130324) Cai DC … Hagoort P (Genes, brain, and behavior 2014) 3 54
  4. Evolutionary origin of amino acid transporter families SLC32, SLC36 and SLC38 and physiological, pathological and therapeutic aspects. (PMID: 23506890) Schiöth HB … Fredriksson R (Molecular aspects of medicine 2013) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for SLC38A11 Gene

Sources for SLC38A11 Gene