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Slc24a5 Gene Detail
Summary
  • Symbol
    Slc24a5
  • Name
    solute carrier family 24, member 5
  • Synonyms
    F630045L20Rik, NCKX5, NCX5, Oca6
  • Feature Type
    protein coding gene
  • IDs
    MGI:2677271
    NCBI Gene: 317750
  • Gene Overview
    MyGene.info: SLC24A5
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:125068127-125088677 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 61.14 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    164 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2677271
protein coding gene Chr2:125068124-125088677 (.)
129S1/SvImJ MGP_129S1SvImJ_G0026423
protein coding gene Chr2:128227758-128252552 (+)
A/J MGP_AJ_G0026385
protein coding gene Chr2:123014977-123035448 (+)
AKR/J MGP_AKRJ_G0026361
protein coding gene Chr2:126531585-126552456 (+)
BALB/cJ MGP_BALBcJ_G0026397
protein coding gene Chr2:123306054-123326732 (+)
C3H/HeJ MGP_C3HHeJ_G0026141
protein coding gene Chr2:127016284-127037839 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026844
protein coding gene Chr2:132332226-132352778 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024221
protein coding gene Chr2:117804046-117824483 (+)
CAST/EiJ MGP_CASTEiJ_G0025603
protein coding gene Chr2:127262358-127282857 (+)
CBA/J MGP_CBAJ_G0026121
protein coding gene Chr2:137135503-137159890 (+)
DBA/2J MGP_DBA2J_G0026255
protein coding gene Chr2:122429813-122450905 (+)
FVB/NJ MGP_FVBNJ_G0026219
protein coding gene Chr2:121119984-121141046 (+)
LP/J MGP_LPJ_G0026360
protein coding gene Chr2:128472289-128492695 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026240
protein coding gene Chr2:141281923-141302487 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026898
protein coding gene Chr2:126558850-126583236 (+)
PWK/PhJ MGP_PWKPhJ_G0025339
protein coding gene Chr2:121966480-121987877 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025140
protein coding gene Chr2:125645086-125665792 (+)
WSB/EiJ MGP_WSBEiJ_G0025676
protein coding gene Chr2:127464173-127486487 (+)



Homology
more
  • Human Ortholog
    SLC24A5, solute carrier family 24 member 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SLC24A5, solute carrier family 24 member 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    JSX, NCKX5, OCA6, SHEP4
  • Links
    NCBI Gene ID: 283652
    neXtProt AC: NX_Q71RS6
    UniProt: Q71RS6

  • Chr Location
    15q21.1; chr15:48120972-48142392 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Slc24a5 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
    21 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
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 knock-out allele exhibit hypopigmentation and ocular albinism.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 317750 NCBI Gene Model | MGI Sequence Detail 20551 C57BL/6J ±  kb
    transcript NM_175034 RefSeq | MGI Sequence Detail 1951 C57BL/6  
    polypeptide Q8C261 UniProt | EBI | MGI Sequence Detail 501 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Primer pair 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 8
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory