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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC6A8
solute carrier family 6 member 8
Chromosome X Β· Xq28
NCBI Gene: 6535Ensembl: ENSG00000130821.18HGNC: HGNC:11055UniProt: P48029
113PubMed Papers
21Diseases
0Drugs
189Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
creatine:sodium symporter activitycreatine transmembrane transportapical plasma membraneplasma membranecreatine transporter deficiencyX-linked creatine transporter deficiencyIntellectual disabilitygenetic disorder
✦AI Summary

SLC6A8 encodes a creatine:sodium symporter that mediates the cellular uptake of creatine, playing a crucial role in cellular energy metabolism 12. The transporter facilitates creatine import across cell membranes in a sodium-dependent manner, enabling cells to utilize creatine for ATP generation through the phosphocreatine system 13. In cancer contexts, SLC6A8 exhibits complex roles: it supports tumor growth by facilitating creatine uptake for energy production 23, yet creatine can also induce ferroptosis through ERK2-FSP1 signaling pathway modulation 4. The transporter is particularly important in metastatic colonization, where it enables uptake of extracellularly produced phosphocreatine to fuel ATP generation during hypoxic stress 1. SLC6A8 also regulates immune cell function, with creatine uptake reprogramming macrophage polarization by modulating cytokine responses 5. Clinically, SLC6A8 represents both a therapeutic target and biomarker - its inhibition shows anti-tumor effects in colorectal cancer models 2, while knockout suppresses hepatocellular carcinoma invasion and migration 6. The gene is associated with cerebral creatine deficiency syndrome 1 when mutated, highlighting its essential role in brain creatine transport.

Sources cited
1
SLC6A8 transports phosphocreatine to generate ATP during metastatic survival under hypoxic conditions
PMID: 25601461
2
SLC6A8 mediates creatine uptake and its inhibition suppresses colorectal cancer growth
PMID: 34613776
3
SLC6A8 enables tumor cell uptake of myeloid-derived creatine in hypoxic niches
PMID: 38134929
4
SLC6A8-mediated creatine uptake can induce ferroptosis through ERK2-FSP1 signaling
PMID: 40892544
5
SLC6A8-mediated creatine uptake reprograms macrophage polarization
PMID: 31399282
6
SLC6A8 knockdown suppresses hepatocellular carcinoma invasion and migration
PMID: 33356959
Disease Associationsβ“˜21
creatine transporter deficiencyOpen Targets
0.85Strong
X-linked creatine transporter deficiencyOpen Targets
0.67Moderate
Intellectual disabilityOpen Targets
0.62Moderate
genetic disorderOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
cerebral creatine deficiency syndromeOpen Targets
0.42Moderate
CADDSOpen Targets
0.33Weak
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeOpen Targets
0.33Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
Abnormal facial shapeOpen Targets
0.27Weak
Low-set earsOpen Targets
0.27Weak
SeizureOpen Targets
0.27Weak
developmental disorder of mental healthOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
hypertensionOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
triple-negative breast cancerOpen Targets
0.10Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
Cerebral creatine deficiency syndrome 1UniProt
Pathogenic Variants189
NM_005629.4(SLC6A8):c.262_262+1delinsTTPathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2025
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 153
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)Pathogenic
Creatine transporter deficiency|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 554
NM_005629.4(SLC6A8):c.1767+1_1767+2insALikely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2025
NM_005629.4(SLC6A8):c.263-1G>CPathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024
NM_005629.4(SLC6A8):c.263-2A>GPathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024
NM_005629.4(SLC6A8):c.1142-2A>GLikely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)Pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 325
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 114
NM_005629.4(SLC6A8):c.1392+24_1393-30delPathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024
NM_005629.4(SLC6A8):c.541T>C (p.Cys181Arg)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 181
NM_005629.4(SLC6A8):c.757G>C (p.Gly253Arg)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 253
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 132
NM_005629.4(SLC6A8):c.1271G>A (p.Gly424Asp)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 424
NM_005629.4(SLC6A8):c.262+1G>TPathogenic
Creatine transporter deficiency|not provided
β˜…β˜…β˜…β˜†2024
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg)Pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 381
NM_005629.4(SLC6A8):c.1206G>A (p.Trp402Ter)Pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 402
NM_005629.4(SLC6A8):c.219del (p.Asn74fs)Pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 74
NM_005629.4(SLC6A8):c.1432dup (p.Ala478fs)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 478
NM_005629.4(SLC6A8):c.92del (p.Pro31fs)Likely pathogenic
Creatine transporter deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 31
View on ClinVar β†—
Related Genes
GAMTProtein interaction95%CKMT1BProtein interaction92%CKBProtein interaction86%SLC6A16Shared pathway75%HAPLN1Protein interaction73%GATMProtein interaction72%
Tissue Expression6 tissues
Heart
100%
Brain
63%
Bone Marrow
27%
Ovary
10%
Lung
9%
Liver
2%
Gene Interaction Network
Click a node to explore
SLC6A8GAMTCKMT1BCKBSLC6A16HAPLN1GATM
PROTEIN STRUCTURE
Preparing viewer…
PDB9KR7 Β· 3.29 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.25Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.12 [0.07–0.25]
RankingsWhere SLC6A8 stands among ~20K protein-coding genes
  • #4,206of 20,598
    Most Researched113 Β· top quartile
  • #370of 5,498
    Most Pathogenic Variants189 Β· top 10%
  • #738of 17,882
    Most Constrained (LOEUF)0.25 Β· top 5%
Genes detectedSLC6A8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Therapeutic targeting of SLC6A8 creatine transporter suppresses colon cancer progression and modulates human creatine levels.
PMID: 34613776
Sci Adv Β· 2021
1.00
2
Creatine promotes cancer metastasis through activation of Smad2/3.
PMID: 33811821
Cell Metab Β· 2021
0.90
3
Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses.
PMID: 31399282
Immunity Β· 2019
0.80
4
Myeloid cell-derived creatine in the hypoxic niche promotes glioblastoma growth.
PMID: 38134929
Cell Metab Β· 2024
0.70
5
SLC6A8-mediated creatine uptake suppresses ERK2-FSP1 signaling and induces ferroptosis in colorectal cancer.
PMID: 40892544
Cell Rep Β· 2025
0.60