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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 Obesity Bmiq11 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 Amino acid transport across the plasma membrane. 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

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

Genomics for SLC6A14 Gene

Regulatory Elements for SLC6A14 Gene

Enhancers for SLC6A14 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
GH0XF116271 1 Ensembl ENCODE 4.9 -164.0 -164005 2.6 TBP JUN CEBPB USF2 RAD21 EP300 BRCA1 JUND SMC3 STAT3 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XF116237 0.8 Ensembl ENCODE 5.1 -197.1 -197121 3.2 JUND GATA3 ATF2 PRDM1 TRIM28 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XF116229 0.8 ENCODE 4.2 -205.5 -205484 3.6 CTCF TBP CEBPG RAD21 GATA3 CTBP1 NFE2 FOS TCF7L2 MTA2 AGTR2 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
GH0XF116172 0.4 ENCODE 5.1 -263.6 -263589 1.8 SCRT2 SLC6A14 AGTR2 GC0XP116203
GH0XF116280 0.2 ENCODE 4 -155.4 -155413 1.4 SLC6A14 GC0XP116203 GC0XM116401 RNU6-154P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC6A14 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC6A14 Gene

Chromosome:
X
Start:
116,436,579 bp from pter
End:
116,461,458 bp from pter
Size:
24,880 bases
Orientation:
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:
    Q9UN76-S6A14_HUMAN
    Recommended name:
    Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)
    Protein Accession:
    Q9UN76
    Secondary Accessions:
    • Q5H942

    Protein attributes for SLC6A14 Gene

    Size:
    642 amino acids
    Molecular mass:
    72153 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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 Asn 155, Asn 163, Asn 174, Asn 189, Asn 197, Asn 202, Asn 230, and Asn 302
  • 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

Protein Domains for SLC6A14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC6A14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN76

UniProtKB/Swiss-Prot:

S6A14_HUMAN :
  • Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A14 subfamily.
Family:
  • 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: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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

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:0006810 transport TAS 10446133
GO:0006836 neurotransmitter transport IEA --
GO:0006865 amino acid transport TAS --
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
Valaciclovir Approved, Investigational Pharma Transporter 0
Valganciclovir Approved, Investigational Pharma Transporter 80
D-serine Experimental Pharma Agonist, Transporter 0
Α-METHYL-D,L-TRYPTOPHAN Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-methyl-D,L-tryptophan
Inhibition, Inhibitor
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC6A14: view

Transcripts for SLC6A14 Gene

mRNA/cDNA for SLC6A14 Gene

Unigene Clusters for SLC6A14 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SLC6A14 Gene

GeneLoc Exon Structure for
SLC6A14
ECgene alternative splicing isoforms for
SLC6A14

Expression for SLC6A14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

SLC6A14

SOURCE GeneReport for Unigene cluster for SLC6A14 Gene:

Hs.522109

mRNA Expression by UniProt/SwissProt for SLC6A14 Gene:

Q9UN76-S6A14_HUMAN
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.
genes like me logo Genes that share expression patterns with SLC6A14: view

Primer Products

Orthologs for SLC6A14 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC6A14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC6A14 34
  • 94.26 (n)
dog
(Canis familiaris)
Mammalia SLC6A14 34
  • 92.28 (n)
cow
(Bos Taurus)
Mammalia SLC6A14 34
  • 88.58 (n)
mouse
(Mus musculus)
Mammalia Slc6a14 34 16
  • 87.98 (n)
rat
(Rattus norvegicus)
Mammalia Slc6a14 34
  • 87.22 (n)
chicken
(Gallus gallus)
Aves SLC6A14 34
  • 71.14 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc6a14.1 34
  • 69.21 (n)
Str.1195 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23471 34
zebrafish
(Danio rerio)
Actinopterygii slc6a14 34
  • 63.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5549 36
  • 43 (a)
CG3252 36
  • 38 (a)
BG:DS03431.1 36
  • 35 (a)
CG8850 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea snf-4 36
  • 36 (a)
snf-5 36
  • 31 (a)
snf-6 36
  • 31 (a)
snf-9 36
  • 31 (a)
snf-2 36
  • 30 (a)
snf-8 36
  • 24 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6688 34
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

ENSEMBL:
Gene Tree for SLC6A14 (if available)
TreeFam:
Gene Tree for SLC6A14 (if available)

Paralogs for SLC6A14 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs10217924 -- 116,453,209(+) GAAAA(C/G)AAGGT intron-variant
rs10218102 -- 116,446,526(+) AAATG(C/T)GGATT intron-variant
rs10218234 -- 116,446,203(+) AGCAG(A/T)GCACT intron-variant
rs10218418 -- 116,448,142(+) GTAAA(G/T)ATTTT intron-variant
rs10521578 -- 116,455,534(+) AATTC(A/G)CATTG intron-variant

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

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

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)

Relevant External Links for SLC6A14 Gene

Human Gene Mutation Database (HGMD)
SLC6A14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC6A14

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

Disorders for SLC6A14 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC6A14 Gene - From: OMIM, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

S6A14_HUMAN
  • 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}.

Relevant External Links for SLC6A14

Genetic Association Database (GAD)
SLC6A14
Human Genome Epidemiology (HuGE) Navigator
SLC6A14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC6A14
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. (J. Clin. Invest. 2003) 3 4 22 46 64
  2. Cloning and functional expression of a human Na(+) and Cl(-)- dependent neutral and cationic amino acid transporter B(0+). (PMID: 10446133) Sloan J.L. … Mager S. (J. Biol. Chem. 1999) 2 3 4 64
  3. Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study. (PMID: 19876004) Corpeleijn E. … Blaak E.E. (Obesity (Silver Spring) 2010) 3 46 64
  4. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Human solute carrier SLC6A14 is the beta-alanine carrier. (PMID: 18599538) Anderson C.M. … Thwaites D.T. (J. Physiol. (Lond.) 2008) 3 22 64

Products for SLC6A14 Gene

Sources for SLC6A14 Gene

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