Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57709
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 7 member 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC7A14
Synonyms (NCBI Gene) Gene synonyms aliases
PPP1R142
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to medi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT711953 hsa-miR-8066 HITS-CLIP 19536157
MIRT711952 hsa-miR-5693 HITS-CLIP 19536157
MIRT711951 hsa-miR-194-3p HITS-CLIP 19536157
MIRT711950 hsa-miR-4797-3p HITS-CLIP 19536157
MIRT711949 hsa-miR-4695-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005765 Component Lysosomal membrane IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615720 29326 ENSG00000013293
Protein
UniProt ID Q8TBB6
Protein name Solute carrier family 7 member 14 (Gamma-aminobutyric acid transporter SLC7A14)
Protein function Imports 4-aminobutanoate (GABA) into lysosomes. May act as a GABA sensor that regulates mTORC2-dependent INS signaling and gluconeogenesis. The transport mechanism and substrate selectivity remain to be elucidated. {ECO:0000250|UniProtKB:Q8BXR1}
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 53 443 Amino acid permease Family
PF13906 AA_permease_C 627 677 C-terminus of AA_permease Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skin fibroblasts. {ECO:0000269|PubMed:22787143}.
Sequence
MSGFFTSLDPRRVQWGAAWYAMHSRILRTKPVESMLEGTGTTTAHGTKLAQVLTTVDLIS
LGVGSCVGTGMYVVSGLVAKEMAGPGVIVSFIIAAVASILSGVCYAEFGVRVPKTTGSAY
TYSYVTVGEFVAFFIGWNLILEYLIGTAAGASALSSMFDSLANHTISRWMADSVGTLNGL
GKGEESYPDLLALLIAVIVTIIVALGVKNSIGFNNVLNVLNLAVWVFIMIAGLFFINGKY
WAEGQFLPHGWSGVLQGAATCFYAFIGFDIIATTGEEAKNPNTSIPYAITASLVICLTAY
VSVSVILTLMVPYYTIDTESPLMEMFVAHGFYAAKFVVAIGSVAGLTVSLLGSLFPMPRV
IYAMAGDGLLFRFLAHVSSYTETPVVACIVSGFLAALLALLVSLRDLIEMMSIGTLLAYT
LVSVCVLLLRYQPESDIDGFVKF
LSEEHTKKKEGILADCEKEACSPVSEGDEFSGPATNT
CGAKNLPSLGDNEMLIGKSDKSTYNVNHPNYGTVDMTTGIEADESENIYLIKLKKLIGPH
YYTMRIRLGLPGKMDRPTAATGHTVTICVLLLFILMFIFCSFIIFGSDYISEQSWWAILL
VVLMVLLISTLVFVILQQPENPKKLPYMAPCLPFVPAFAMLVNIYLMLKLSTITWIRFAV
WCFVGLLIYFGYGIWNS
TLEISAREEALHQSTYQRYDVDDPFSVEEGFSYATEGESQEDW
GGPTEDKGFYYQQMSDAKANGRTSSKAKSKSKHKQNSEALIANDELDYSPE
Sequence length 771
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa, retinitis pigmentosa 68 GenCC
Alzheimer disease Alzheimer disease GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 27759212
Mesothelioma Associate 23626673
Mesothelioma Malignant Stimulate 23626673
Pancreatic Neoplasms Associate 32702921
Retinitis Pigmentosa Associate 31960602, 33207307