Gene Gene information from NCBI Gene database.
Entrez ID 11254
Gene name Solute carrier family 6 member 14
Gene symbol SLC6A14
Synonyms (NCBI Gene)
BMIQ11
Chromosome X
Chromosome location Xq23
Summary 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 be
miRNA miRNA information provided by mirtarbase database.
467
miRTarBase ID miRNA Experiments Reference
MIRT030183 hsa-miR-26b-5p Microarray 19088304
MIRT1365912 hsa-miR-1228 CLIP-seq
MIRT1365913 hsa-miR-125a-5p CLIP-seq
MIRT1365914 hsa-miR-125b CLIP-seq
MIRT1365915 hsa-miR-140-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001761 Function Beta-alanine transmembrane transporter activity IBA
GO:0001761 Function Beta-alanine transmembrane transporter activity IDA 18599538
GO:0001762 Process Beta-alanine transport IBA
GO:0001762 Process Beta-alanine transport IDA 18599538
GO:0003333 Process Amino acid transmembrane transport TAS 10446133
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300444 11047 ENSG00000268104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN76
Protein name Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (Amino acid transporter ATB0+) (Solute carrier family 6 member 14)
Protein function Amino acid transporter that plays an important role in the absorption of amino acids in the intestinal tract. Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent man
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00209 SNF 36 588 Sodium:neurotransmitter symporter family Family
Tissue specificity 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. {ECO:0000269|PubMed:10446133}.
Sequence
Sequence length 642
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Variant SLC6A14 may confer susceptibility towards obesity
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CELIAC DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26106611
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21771784
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12381519, 14563674 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 26106611, 31731384 Associate
★☆☆☆☆
Found in Text Mining only
Celiac Disease Celiac disease CTD_human_DG 30097691
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervix carcinoma Cervix carcinoma BEFREE 16168467
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 39670859 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 18700007, 32190668, 36272033, 36419192, 38070204 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 15905073
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 15905073
★☆☆☆☆
Found in Text Mining only