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Slc7a14 Gene Detail
Summary
  • Symbol
    Slc7a14
  • Name
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 14
  • Feature Type
    protein coding gene
  • IDs
    MGI:3040688
    NCBI Gene: 241919
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:31257007-31364527 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 15.17 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    570 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3040688
 protein coding gene Chr3:31257003-31364712 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027133
 protein coding gene Chr3:28735312-28854441 (-)
A/J MGP_AJ_G0027093
 protein coding gene Chr3:28353000-28461566 (-)
AKR/J MGP_AKRJ_G0027062
 protein coding gene Chr3:28787369-28896004 (-)
BALB/cJ MGP_BALBcJ_G0027105
 protein coding gene Chr3:28031201-28147121 (-)
C3H/HeJ MGP_C3HHeJ_G0026847
 protein coding gene Chr3:28812447-28920346 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027551
 protein coding gene Chr3:30257924-30374642 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024912
 protein coding gene Chr3:26243732-26349247 (-)
CAST/EiJ MGP_CASTEiJ_G0026301
 protein coding gene Chr3:28724016-28836101 (-)
CBA/J MGP_CBAJ_G0026825
 protein coding gene Chr3:31017075-31132643 (-)
DBA/2J MGP_DBA2J_G0026959
 protein coding gene Chr3:27889301-28006317 (-)
FVB/NJ MGP_FVBNJ_G0026927
 protein coding gene Chr3:27343218-27450962 (-)
LP/J MGP_LPJ_G0027070
 protein coding gene Chr3:29441154-29552745 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026947
 protein coding gene Chr3:33588874-33710657 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027610
 protein coding gene Chr3:28561919-28686550 (-)
PWK/PhJ MGP_PWKPhJ_G0026034
 protein coding gene Chr3:27407859-27521084 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025846
 protein coding gene Chr3:28040318-28154225 (-)
WSB/EiJ MGP_WSBEiJ_G0026375
 protein coding gene Chr3:28624799-28736165 (-)



Homology
more
  • Human Ortholog
    SLC7A14, solute carrier family 7 member 14
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC7A14, solute carrier family 7 member 14
  • Synonyms
    PPP1R142
  • Links
    NCBI Gene ID: 57709
    neXtProt AC: NX_Q8TBB6
    UniProt: Q8TBB6

  • Chr Location
    3q26.2; chr3:170459548-170586075 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Slc7a14 mouse models; 1 with human SLC7A14 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. A p.G330R mutation additionally leads to progressive sensorineural hearing loss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    5
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    802
  • Tissues
    60
  • cDNA Data
    16
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000069072 Ensembl Gene Model | MGI Sequence Detail 107521 C57BL/6J ±  kb
    transcript ENSMUST00000091259 Ensembl | MGI Sequence Detail 8897 Not Applicable  
    polypeptide ENSMUSP00000088803 Ensembl | MGI Sequence Detail 771 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 16
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 5
      Phenotypes 8
    • Earliest
      J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
    • Latest
      J:336865 Li S, et al., Epistatic genetic interactions between Insm1 and Ikzf2 during cochlear outer hair cell development. Cell Rep. 2023 May 30;42(5):112504
    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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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory