Gene Gene information from NCBI Gene database.
Entrez ID 6520
Gene name Solute carrier family 3 member 2
Gene symbol SLC3A2
Synonyms (NCBI Gene)
4F24F2HC4T2HCCD98CD98HCMDU1NACAE
Chromosome 11
Chromosome location 11q12.3
Summary This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded tr
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT029803 hsa-miR-26b-5p Microarray 19088304
MIRT031815 hsa-miR-16-5p Proteomics 18668040
MIRT049624 hsa-miR-92a-3p CLASH 23622248
MIRT047602 hsa-miR-10a-5p CLASH 23622248
MIRT041531 hsa-miR-193b-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 17023546
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003725 Function Double-stranded RNA binding IDA 21266579
GO:0005515 Function Protein binding IPI 9878049, 10506149, 10631289, 12270127, 20374249, 25998567, 28298427, 30341327, 30867591, 31160781, 32296183, 32814053, 33298890, 34880232, 35271311
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
158070 11026 ENSG00000168003
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08195
Protein name Amino acid transporter heavy chain SLC3A2 (4F2 cell-surface antigen heavy chain) (4F2hc) (4F2 heavy chain antigen) (Lymphocyte activation antigen 4F2 large subunit) (Solute carrier family 3 member 2) (CD antigen CD98)
Protein function Acts as a chaperone that facilitates biogenesis and trafficking of functional transporters heterodimers to the plasma membrane. Forms heterodimer with SLC7 family transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10 and SLC7A11), a group of ami
PDB 2DH2 , 2DH3 , 6IRS , 6IRT , 6JMQ , 6JMR , 6S8V , 7B00 , 7CCS , 7CMH , 7CMI , 7DF1 , 7DSK , 7DSL , 7DSN , 7DSQ , 7EPZ , 7P9U , 7P9V , 8A6L , 8G0M , 8IDA , 8J8L , 8J8M , 8KDD , 8KDF , 8KDG , 8KDH , 8KDI , 8KDJ , 8KDN , 8KDO , 8KDP , 8QEY , 8WNS , 8WNT , 8WNY , 8X0W , 8XPU , 8YLP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16028 SLC3A2_N 145 225 Solute carrier family 3 member 2 N-terminus Family
PF00128 Alpha-amylase 239 325 Alpha amylase, catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously in all tissues tested with highest levels detected in kidney, placenta and testis and weakest level in thymus. During gestation, expression in the placenta was significantly stronger at full-term than at the mid-
Sequence
MELQPPEASIAVVSIPRQLPGSHSEAGVQGLSAGDDSELGSHCVAQTGLELLASGDPLPS
ASQNAEMIETGSDCVTQAGLQLLASSDPPALASKNAEVTGTMSQDTEVDMKEVELNELEP
EKQPMNAASGAAMSLAGAEKNGLVKIKVAEDEAEAAAAAKFTGLSKEELLKVAGSPGWVR
TRWALLLLFWLGWLGMLAGAVVIIVRAPRCRELPAQKWWHTGALY
RIGDLQAFQGHGAGN
LAGLKGRLDYLSSLKVKGLVLGPIHKNQKDDVAQTDLLQIDPNFGSKEDFDSLLQSAKKK
SIRVILDLTPNYRGENSWFSTQVDT
VATKVKDALEFWLQAGVDGFQVRDIENLKDASSFL
AEWQNITKGFSEDRLLIAGTNSSDLQQILSLLESNKDLLLTSSYLSDSGSTGEHTKSLVT
QYLNATGNRWCSWSLSQARLLTSFLPAQLLRLYQLMLFTLPGTPVFSYGDEIGLDAAALP
GQPMEAPVMLWDESSFPDIPGAVSANMTVKGQSEDPGSLLSLFRRLSDQRSKERSLLHGD
FHAFSAGPGLFSYIRHWDQNERFLVVLNFGDVGLSAGLQASDLPASASLPAKADLLLSTQ
PGREEGSPLELERLKLEPHEGLLLRFPYAA
Sequence length 630
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Ferroptosis
Protein digestion and absorption
  Basigin interactions
Amino acid transport across the plasma membrane
Defective SLC7A7 causes lysinuric protein intolerance (LPI)
Tryptophan catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA 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
Adenocarcinoma Adenocarcinoma BEFREE 25835180, 30300664
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27626312
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28012647
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 17329830 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28012647
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 31701662
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 21670318
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29545595, 30671766, 31819174
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 10196234, 29545595, 29867227, 30066829, 31819174, 32093034, 32907912, 35501367, 37484811 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 25466511
★☆☆☆☆
Found in Text Mining only