Gene Gene information from NCBI Gene database.
Entrez ID 57709
Gene name Solute carrier family 7 member 14
Gene symbol SLC7A14
Synonyms (NCBI Gene)
PPP1R142
Chromosome 3
Chromosome location 3q26.2
Summary 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.
670
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IEA
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615720 29326 ENSG00000013293
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Retinal dystrophy Likely pathogenic rs1711773849, rs2473367392 RCV003890848
RCV003890849
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 68 Pathogenic rs587777272, rs587777273 RCV000114375
RCV000114377
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Optic atrophy Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Retinitis pigmentosa Uncertain significance ClinVar
ClinVar, Disgenet, Orphanet
ClinVar, Disgenet, Orphanet
ClinVar, Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 30924391
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 27759212 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus HPO_DG
★☆☆☆☆
Found in Text Mining only
Glaucoma Glaucoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Hyperinsulinism Hyperinsulinism HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypogonadism Hypogonadism HPO_DG
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation HPO_DG
★☆☆☆☆
Found in Text Mining only