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Slc7a8 Gene Detail
Summary
  • Symbol
    Slc7a8
  • Name
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 8
  • Synonyms
    LAT2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1355323
    NCBI Gene: 50934
  • Gene Overview
    MyGene.info: SLC7A8
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:54722215-54781886 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 27.91 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    747 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1355323
 protein coding gene Chr14:54722209-54781946 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021324
 protein coding gene Chr14:48692967-48752315 (-)
A/J MGP_AJ_G0021283
 protein coding gene Chr14:47734144-47792939 (-)
AKR/J MGP_AKRJ_G0021259
 protein coding gene Chr14:49458461-49519250 (-)
BALB/cJ MGP_BALBcJ_G0021287
 protein coding gene Chr14:47709882-47767911 (-)
C3H/HeJ MGP_C3HHeJ_G0021067
 protein coding gene Chr14:49157615-49218597 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021725
 protein coding gene Chr14:51154388-51215140 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019270
 protein coding gene Chr14:46149041-46208309 (-)
CAST/EiJ MGP_CASTEiJ_G0020586
 protein coding gene Chr14:45399864-45462144 (-)
CBA/J MGP_CBAJ_G0021034
 protein coding gene Chr14:52693202-52769174 (-)
DBA/2J MGP_DBA2J_G0021155
 protein coding gene Chr14:47473538-47531473 (-)
FVB/NJ MGP_FVBNJ_G0021137
 protein coding gene Chr14:46927981-46991830 (-)
LP/J MGP_LPJ_G0021229
 protein coding gene Chr14:49691708-49753814 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021161
 protein coding gene Chr14:52087372-52149977 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021752
 protein coding gene Chr14:48648474-48708493 (-)
PWK/PhJ MGP_PWKPhJ_G0020332
 protein coding gene Chr14:44007587-44068232 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020160
 protein coding gene Chr14:44630192-44687909 (-)
WSB/EiJ MGP_WSBEiJ_G0020639
 protein coding gene Chr14:48935342-48996082 (-)



Homology
more
  • Human Ortholog
    SLC7A8, solute carrier family 7 member 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SLC7A8, solute carrier family 7 member 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LAT2, LPI-PC1
  • Links
    NCBI Gene ID: 23428
    neXtProt AC: NX_Q9UHI5
    UniProt: Q9UHI5

  • Chr Location
    14q11.2; chr14:23125295-23183660 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Slc7a8 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted mutation display hypoactivity, decreased motor performance, and resistance to pharmacologically induced seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    872
  • Tissues
    180
  • cDNA Data
    50
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 50934 NCBI Gene Model | MGI Sequence Detail 59672 C57BL/6J ±  kb
    transcript NM_016972 RefSeq | MGI Sequence Detail 4064 C57BL/6  
    polypeptide Q9QXW9 UniProt | EBI | MGI Sequence Detail 531 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      Genomic 1
      cDNA 50
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2145551
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 7
      Phenotypes 10
    • Earliest
      J:59975 Bassi MT, et al., SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 1999 Dec 1;62(2):297-303
    • Latest
      J:256844 Espino Guarch M, et al., Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. Elife. 2018 Jan 22;7
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    06/23/2020
    MGI 6.15     		The Jackson Laboratory