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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC39A8
solute carrier family 39 member 8
Chromosome 4 Β· 4q24
NCBI Gene: 64116Ensembl: ENSG00000138821.15HGNC: HGNC:20862UniProt: Q9C0K1
77PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecadmium ion transmembrane transportmanganese ion transmembrane transportzinc ion transmembrane transportSLC39A8-CDGcongenital disorder of glycosylation type IIosteoarthritishypertension
✦AI Summary

SLC39A8 encodes ZIP8, an electroneutral divalent metal cation:bicarbonate symporter that mediates cellular uptake of zinc, manganese, iron, cobalt, selenium, and cadmium 1. The transporter functions at the plasma membrane as well as intracellularly at lysosomal membranes, transporting metal-bicarbonate complexes or metal-selenite anions 1. SLC39A8 is ubiquitously expressed across all cell types and plays critical roles in development, tissue homeostasis, and immunity 1. Zinc uptake via SLC39A8 indirectly regulates the transcription factor MTF1 and metalloproteases involved in cartilage and heart development, while also controlling innate immune function and inflammatory responses 1. In intestinal epithelium, SLC39A8 mediates manganese absorption at the apical membrane and maintains epithelial integrity through sphingolipid metabolism pathways 2. In lung alveolar progenitor cells, ZIP8 regulates cell renewal through SIRT1-dependent mechanisms; deficiency impairs regeneration and promotes idiopathic pulmonary fibrosis 3. SLC39A8 variants associate with congenital disorder of glycosylation type 2N and exhibit striking pleiotropy, linked to developmental disorders, cardiovascular disease, schizophrenia, inflammatory bowel disease, Parkinson disease, and multi-organ fibrosis 145. Pathogenic variants disrupt protein localization, expression, or metal uptake capacity, with differential effects across metal substrates 6.

Sources cited
1
SLC39A8 encodes ZIP8, a conserved metal cation transporter mediating uptake of Mn2+, Zn2+, Fe2+, Se4+, and Co2+; ubiquitously expressed; global knockout is embryolethal; variants associated with pleiotrophic phenotypes across multiple organ systems
PMID: 31521203
2
SLC39A8 localizes to apical membrane and mediates intestinal manganese absorption; links to inflammatory bowel disease through sphingolipid metabolism and epithelial barrier function
PMID: 38839750
3
ZIP8/SLC39A8 regulates alveolar progenitor cell renewal through SIRT1-dependent mechanisms; deficiency impairs lung regeneration and promotes idiopathic pulmonary fibrosis
PMID: 35389887
4
SLC39A8 variants exhibit differential effects on protein localization and metal uptake capacity; variants associated with congenital disorder of glycosylation type 2 and Leigh-like syndrome
PMID: 39884836
5
SLC39A8 nonsynonymous variant (rs13107325) influences multiple traits including schizophrenia and Parkinson disease risk
PMID: 27182965
6
SLC39A8 implicated in multi-organ fibrosis through metal ion transport pathways affecting liver, pancreas, heart, and kidney
PMID: 38806679
Disease Associationsβ“˜21
SLC39A8-CDGOpen Targets
0.81Strong
congenital disorder of glycosylation type IIOpen Targets
0.77Strong
osteoarthritisOpen Targets
0.56Moderate
hypertensionOpen Targets
0.55Moderate
schizophreniaOpen Targets
0.54Moderate
intelligenceOpen Targets
0.54Moderate
Abnormality of the skeletal systemOpen Targets
0.54Moderate
gastroesophageal reflux diseaseOpen Targets
0.51Moderate
obesityOpen Targets
0.51Moderate
asthmaOpen Targets
0.51Moderate
osteoarthritis, hipOpen Targets
0.50Moderate
osteoarthritis, kneeOpen Targets
0.50Moderate
obstructive sleep apneaOpen Targets
0.50Moderate
joint diseaseOpen Targets
0.50Moderate
enthesopathyOpen Targets
0.49Moderate
sleep apneaOpen Targets
0.49Moderate
esophageal diseaseOpen Targets
0.48Moderate
spinal stenosisOpen Targets
0.48Moderate
alcohol drinkingOpen Targets
0.48Moderate
substance-related disorderOpen Targets
0.48Moderate
Congenital disorder of glycosylation 2NUniProt
Pathogenic Variants9
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)Pathogenic
SLC39A8-CDG|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 38
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)Likely pathogenic
SLC39A8-CDG|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 340
NM_001135146.2(SLC39A8):c.611G>T (p.Gly204Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 204
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)Pathogenic
SLC39A8-CDG
β˜…β˜†β˜†β˜†2022β†’ Residue 428
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)Pathogenic
SLC39A8-CDG
β˜…β˜†β˜†β˜†2021β†’ Residue 74
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter)Likely pathogenic
SLC39A8-CDG
β˜…β˜†β˜†β˜†2020β†’ Residue 106
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter)Likely pathogenic
SLC39A8-CDG
β˜…β˜†β˜†β˜†2020β†’ Residue 342
NM_001135146.2(SLC39A8):c.978C>A (p.Cys326Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 326
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser)Likely pathogenic
SLC39A8-CDG
β˜…β˜†β˜†β˜†β†’ Residue 113
View on ClinVar β†—
Related Genes
SLC30A7Protein interaction86%SLC30A10Protein interaction78%SLC30A1Protein interaction76%SLC39A11Protein interaction74%SLC30A4Protein interaction73%SLC39A1Protein interaction73%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
91%
Liver
19%
Ovary
11%
Brain
9%
Heart
4%
Gene Interaction Network
Click a node to explore
SLC39A8SLC30A7SLC30A10SLC30A1SLC39A11SLC30A4SLC39A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9C0K1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.62Intermediate
Observed/Expected LoF0.38 [0.24–0.60]
RankingsWhere SLC39A8 stands among ~20K protein-coding genes
  • #6,210of 20,598
    Most Researched77
  • #2,952of 5,498
    Most Pathogenic Variants9
  • #4,139of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedSLC39A8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.
PMID: 31521203
Hum Genomics Β· 2019
1.00
2
The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
PMID: 38839750
Nat Commun Β· 2024
0.90
3
The ZIP8/SIRT1 axis regulates alveolar progenitor cell renewal in aging and idiopathic pulmonary fibrosis.
PMID: 35389887
J Clin Invest Β· 2022
0.80
4
Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.
PMID: 39884836
Life Sci Alliance Β· 2025
0.70
5
Detection and interpretation of shared genetic influences on 42 human traits.
PMID: 27182965
Nat Genet Β· 2016
0.60