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Aliases for SLC6A14 Gene

Aliases for SLC6A14 Gene

  • Solute Carrier Family 6 Member 14 2 3 4 5
  • Solute Carrier Family 6 (Neurotransmitter Transporter), Member 14 2 3
  • Solute Carrier Family 6 (Amino Acid Transporter), Member 14 2 3
  • Amino Acid Transporter ATB0+ 3 4
  • Sodium- And Chloride-Dependent Neutral And Basic Amino Acid Transporter B(0+) 3
  • Amino Acid Transporter B0+ 3
  • BMIQ11 3

External Ids for SLC6A14 Gene

Previous GeneCards Identifiers for SLC6A14 Gene

  • GC0XP110424
  • GC0XP112654
  • GC0XP113582
  • GC0XP114351
  • GC0XP115379
  • GC0XP115481
  • GC0XP105105

Summaries for SLC6A14 Gene

Entrez Gene Summary for SLC6A14 Gene

  • This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

GeneCards Summary for SLC6A14 Gene

SLC6A14 (Solute Carrier Family 6 Member 14) is a Protein Coding gene. Diseases associated with SLC6A14 include Body Mass Index Quantitative Trait Locus 11 and Meconium Ileus. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and neurotransmitter:sodium symporter activity. An important paralog of this gene is SLC6A5.

UniProtKB/Swiss-Prot for SLC6A14 Gene

  • Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner.

Gene Wiki entry for SLC6A14 Gene

Additional gene information for SLC6A14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC6A14 Gene

Genomics for SLC6A14 Gene

GeneHancer (GH) Regulatory Elements for SLC6A14 Gene

Promoters and enhancers for SLC6A14 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ116436 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 +0.0 7 1.2 GTF2F1 DRAP1 SOX13 PKNOX1 MAZ FOXA3 CHD1 ELF1 CTBP1 POLR2A SLC6A14 CT83
GH0XJ116271 Enhancer 0.9 Ensembl ENCODE 4.9 -164.0 -164005 2.6 JUN RAD21 BRCA1 ZNF143 SMC3 RCOR1 FOSL2 FOS CHD2 TCF7L2 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XJ116237 Enhancer 0.7 Ensembl ENCODE 5.1 -197.1 -197120 3.2 GATA3 NFIB DPF2 FOXA1 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XJ116229 Enhancer 0.7 ENCODE 4.2 -205.5 -205484 3.6 FOXA2 CEBPG CTBP1 GATA3 FOSL2 FOS MAFK TCF7L2 CEBPB REST AGTR2 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XJ116172 Enhancer 0.2 ENCODE 5.1 -263.6 -263589 1.8 SLC6A14 AGTR2 GC0XP116203
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC6A14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC6A14 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • POU2F1a
  • POU2F1
  • STAT1beta
  • STAT1
  • STAT1alpha
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for SLC6A14 Gene

Genomic Locations for SLC6A14 Gene
24,880 bases
Plus strand
24,879 bases
Plus strand

Genomic View for SLC6A14 Gene

Genes around SLC6A14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC6A14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC6A14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC6A14 Gene

Proteins for SLC6A14 Gene

  • Protein details for SLC6A14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
    Protein Accession:
    Secondary Accessions:
    • Q5H942

    Protein attributes for SLC6A14 Gene

    642 amino acids
    Molecular mass:
    72153 Da
    Quaternary structure:
    No Data Available
    • Transport inhibited by BCH (2-aminobicyclo-[2.2.1]-heptane-2-carboxylic acid).

neXtProt entry for SLC6A14 Gene

Post-translational modifications for SLC6A14 Gene

  • Glycosylation at isoforms=302, posLast=230230, isoforms=202, isoforms=197, posLast=189189, isoforms=174, posLast=163163, and posLast=155155
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC6A14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC6A14 Gene

Domains & Families for SLC6A14 Gene

Gene Families for SLC6A14 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC6A14 Gene


Suggested Antigen Peptide Sequences for SLC6A14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A14 subfamily.
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A14 subfamily.
genes like me logo Genes that share domains with SLC6A14: view

Function for SLC6A14 Gene

Molecular function for SLC6A14 Gene

UniProtKB/Swiss-Prot Function:
Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner.

Gene Ontology (GO) - Molecular Function for SLC6A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IBA --
GO:0005328 neurotransmitter:sodium symporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC6A14: view
genes like me logo Genes that share phenotypes with SLC6A14: view

Animal Models for SLC6A14 Gene

MGI Knock Outs for SLC6A14:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC6A14

miRNA for SLC6A14 Gene

miRTarBase miRNAs that target SLC6A14

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC6A14 Gene

Localization for SLC6A14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC6A14 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

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 SLC6A14 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC6A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 10446133
GO:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with SLC6A14: view

Pathways & Interactions for SLC6A14 Gene

genes like me logo Genes that share pathways with SLC6A14: view

Interacting Proteins for SLC6A14 Gene

Selected Interacting proteins: Q9UN76-S6A14_HUMAN for SLC6A14 Gene via IID

Gene Ontology (GO) - Biological Process for SLC6A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006520 cellular amino acid metabolic process TAS 10446133
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
GO:0009636 response to toxic substance IDA 17575980
genes like me logo Genes that share ontologies with SLC6A14: view

No data available for SIGNOR curated interactions for SLC6A14 Gene

Drugs & Compounds for SLC6A14 Gene

(5) Drugs for SLC6A14 Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
D-serine Approved, Experimental, Investigational Pharma Agonist, Transporter 0
Valaciclovir Approved, Investigational Pharma Transporter 0
Valganciclovir Approved, Investigational Pharma Transporter 87

(2) Additional Compounds for SLC6A14 Gene - From: IUPHAR and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inhibition, Inhibitor
  • Na(+)
  • Na+
  • SODIUM ion
genes like me logo Genes that share compounds with SLC6A14: view

Transcripts for SLC6A14 Gene

mRNA/cDNA for SLC6A14 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC6A14 Gene

Solute carrier family 6 (amino acid transporter), member 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC6A14 Gene

No ASD Table

Relevant External Links for SLC6A14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC6A14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC6A14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC6A14 Gene

This gene is overexpressed in Minor Salivary Gland (x17.3), Lung (x13.3), and Vagina (x4.0).

Protein differential expression in normal tissues from HIPED for SLC6A14 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC6A14 Gene

Protein tissue co-expression partners for SLC6A14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC6A14 Gene:


SOURCE GeneReport for Unigene cluster for SLC6A14 Gene:


mRNA Expression by UniProt/SwissProt for SLC6A14 Gene:

Tissue specificity: Levels are highest in adult and fetal lung, in trachea and salivary gland. Lower levels detected in mammary gland, stomach and pituitary gland, and very low levels in colon, uterus, prostate and testis.

Evidence on tissue expression from TISSUES for SLC6A14 Gene

  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SLC6A14: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC6A14 Gene

Orthologs for SLC6A14 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A14 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC6A14 33
  • 94.26 (n)
(Canis familiaris)
Mammalia SLC6A14 33
  • 92.28 (n)
(Bos Taurus)
Mammalia SLC6A14 33
  • 88.58 (n)
(Mus musculus)
Mammalia Slc6a14 16 33
  • 87.98 (n)
(Rattus norvegicus)
Mammalia Slc6a14 33
  • 87.22 (n)
(Gallus gallus)
Aves SLC6A14 33
  • 71.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a14.1 33
  • 69.21 (n)
Str.1195 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23471 33
(Danio rerio)
Actinopterygii slc6a14 33
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5549 35
  • 43 (a)
CG3252 35
  • 38 (a)
BG:DS03431.1 35
  • 35 (a)
CG8850 35
  • 35 (a)
(Caenorhabditis elegans)
Secernentea snf-4 35
  • 36 (a)
snf-9 35
  • 31 (a)
snf-5 35
  • 31 (a)
snf-6 35
  • 31 (a)
snf-2 35
  • 30 (a)
snf-8 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.6688 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6688 33
Species where no ortholog for SLC6A14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for SLC6A14 Gene

Gene Tree for SLC6A14 (if available)
Gene Tree for SLC6A14 (if available)
Evolutionary constrained regions (ECRs) for SLC6A14: view image

Paralogs for SLC6A14 Gene

(18) SIMAP similar genes for SLC6A14 Gene using alignment to 1 proteins:

  • S6A14_HUMAN Pseudogenes for SLC6A14 Gene

genes like me logo Genes that share paralogs with SLC6A14: view

Variants for SLC6A14 Gene

Sequence variations from dbSNP and Humsavar for SLC6A14 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1000290686 -- 116,456,823(+) T/C intron_variant
rs1000955912 -- 116,438,291(+) A/G intron_variant
rs1001091871 -- 116,437,947(+) A/G coding_sequence_variant, missense_variant
rs1001915485 -- 116,443,162(+) A/C intron_variant
rs1004113241 -- 116,437,124(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC6A14 Gene

Variant ID Type Subtype PubMed ID
dgv2379e212 CNV gain 25503493
dgv2380e212 CNV loss 25503493
dgv2381e212 CNV loss 25503493
dgv2382e212 CNV gain 25503493
dgv2383e212 CNV gain 25503493
dgv2384e212 CNV loss 25503493
dgv2385e212 CNV gain 25503493
dgv2386e212 CNV gain 25503493
dgv526n21 CNV gain 19592680
nsv438153 CNV loss 16468122
nsv523582 CNV gain 19592680
nsv526428 CNV gain 19592680
nsv527804 CNV gain 19592680

Variation tolerance for SLC6A14 Gene

Residual Variation Intolerance Score: 14.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC6A14 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC6A14 Gene

Disorders for SLC6A14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC6A14 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 11
  • bmiq11
meconium ileus
  • intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
- elite association - COSMIC cancer census association via MalaCards


  • Note=Genetic variations in SLC6A14 may be associated with obesity in some populations, as shown by significant differences in allele frequencies between obese and non-obese individuals. {ECO:0000269 PubMed:14660737, ECO:0000269 PubMed:14660752}.

Additional Disease Information for SLC6A14

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC6A14: view

No data available for Genatlas for SLC6A14 Gene

Publications for SLC6A14 Gene

  1. The SLC6A14 gene shows evidence of association with obesity. (PMID: 14660752) Suviolahti E … Pajukanta P (The Journal of clinical investigation 2003) 3 4 22 44 58
  2. Cloning and functional expression of a human Na(+) and Cl(-)-dependent neutral and cationic amino acid transporter B(0+). (PMID: 10446133) Sloan JL … Mager S (The Journal of biological chemistry 1999) 2 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study. (PMID: 19876004) Corpeleijn E … Blaak EE (Obesity (Silver Spring, Md.) 2010) 3 44 58
  5. Human solute carrier SLC6A14 is the beta-alanine carrier. (PMID: 18599538) Anderson CM … Thwaites DT (The Journal of physiology 2008) 3 22 58

Products for SLC6A14 Gene

Sources for SLC6A14 Gene

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