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Slc39a8 Gene Detail
Summary
  • Symbol
    Slc39a8
  • Name
    solute carrier family 39 (metal ion transporter), member 8
  • Synonyms
    4933419D20Rik, BIGM103, ZIP8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914797
    NCBI Gene: 67547
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:135531040-135594333 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 63.04 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2171 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914797
 protein coding gene Chr3:135522644-135594333 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027910
 protein coding gene Chr3:138746408-138814451 (+)
A/J MGP_AJ_G0027868
 protein coding gene Chr3:133867259-133932343 (+)
AKR/J MGP_AKRJ_G0027833
 protein coding gene Chr3:137405556-137477004 (+)
BALB/cJ MGP_BALBcJ_G0027881
 protein coding gene Chr3:133701255-133763876 (+)
C3H/HeJ MGP_C3HHeJ_G0027610
 protein coding gene Chr3:137748540-137814340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028324
 protein coding gene Chr3:143589610-143656229 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025662
 protein coding gene Chr3:129079011-129144866 (+)
CAST/EiJ MGP_CASTEiJ_G0027066
 protein coding gene Chr3:137478945-137561287 (+)
CBA/J MGP_CBAJ_G0027586
 protein coding gene Chr3:148422823-148501985 (+)
DBA/2J MGP_DBA2J_G0027726
 protein coding gene Chr3:133012921-133082939 (+)
FVB/NJ MGP_FVBNJ_G0027693
 protein coding gene Chr3:130501785-130570662 (+)
LP/J MGP_LPJ_G0027836
 protein coding gene Chr3:140167118-140234948 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027724
 protein coding gene Chr3:156532162-156604793 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028382
 protein coding gene Chr3:136945198-137015497 (+)
PWK/PhJ MGP_PWKPhJ_G0026790
 protein coding gene Chr3:132735899-132804616 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026616
 protein coding gene Chr3:135027623-135097169 (+)
WSB/EiJ MGP_WSBEiJ_G0027145
 protein coding gene Chr3:137737034-137810964 (+)



Homology
more
  • Human Ortholog
    SLC39A8, solute carrier family 39 member 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC39A8, solute carrier family 39 member 8
  • Synonyms
    BIGM103, CDG2N, LZT-Hs6, PP3105, ZIP8
  • Links
    NCBI Gene ID: 64116
    neXtProt AC: NX_Q9C0K1
    UniProt: Q9C0K1

  • Chr Location
    4q24; chr4:102251041-102431258 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc39a8 mouse models; 1 with human SLC39A8 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 4 alleles in 4 genetic backgrounds
    43 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 null allele die by E16.5 showing body edema, cardiac hypertrabeculation, thin compact myocardium, left ventricular noncompaction, increased cardiomyocyte proliferation, extracellular matrix accumulation, lower zinc level, and ventricular septal defects. Homozygosity for the p.A393T mutation leads to lower brain zinc levels and lower cortex dendritic spine density.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    70
  • GO References
    15
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
membraneless 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
    1117
  • Tissues
    95
  • cDNA Data
    16
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000053897 Ensembl Gene Model | MGI Sequence Detail 63294 C57BL/6J ±  kb
    transcript ENSMUST00000167390 Ensembl | MGI Sequence Detail 3533 Not Applicable  
    polypeptide ENSMUSP00000128245 Ensembl | MGI Sequence Detail 462 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 19
      Primer pair 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139613
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 12
      Diseases 2
      Gene Ontology 15
      Phenotypes 43
    • Earliest
      J:28008 Harrison SM, et al., Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Development. 1995 Aug;121(8):2479-89
    • Latest
      J:358128 Choi EK, et al., Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis. JCI Insight. 2024 Oct 22;9(20)
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory