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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.
SLC35B2
solute carrier family 35 member B2
Chromosome 6 Β· 6p21.1
NCBI Gene: 347734Ensembl: ENSG00000157593.20HGNC: HGNC:16872UniProt: Q8TB61
50PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi apparatusmembranepositive regulation of canonical NF-kappaB signal transduction3'-phosphoadenosine 5'-phosphosulfate transportleukodystrophy, hypomyelinating, 26, with chondrodysplasiaprimary bone dysplasia with multiple joint dislocationsscoliosisIntellectual disability
✦AI Summary

SLC35B2 encodes a Golgi membrane transporter that mediates the import of 3'-phosphoadenosine 5'-phosphosulfate (PAPS), the universal sulfate donor, from the cytosol into the Golgi lumen 1. This transport function is essential for sulfation reactions, particularly proteoglycan sulfation, which is critical for skeletal and brain development 1. The protein plays important roles in innate immunity by facilitating the production of sulfated glycosaminoglycans (sGAGs) that promote STING polymerization and activation in response to DNA virus infections 23. In cancer contexts, SLC35B2 enables protein tyrosine sulfation that affects tumor progression through modulation of signaling pathways, including Hippo signaling in hepatocellular carcinoma 4 and integrin Ξ²4 stability in pancreatic adenocarcinoma 5. Clinically, biallelic pathogenic variants in SLC35B2 cause hypomyelinating leukodystrophy 26 with chondrodysplasia, characterized by growth retardation, skeletal abnormalities, and severe intellectual disability due to impaired proteoglycan sulfation 1. The gene also shows differential expression patterns in psychiatric disorders, with reduced expression in bipolar disorder that is normalized by lithium treatment 6.

Sources cited
1
SLC35B2 transports PAPS into Golgi lumen and variants cause chondrodysplasia with hypomyelinating leukodystrophy
PMID: 35325049
2
SLC35B2 enables sGAG production that promotes STING polymerization in innate immunity
PMID: 33857420
3
FBXW7 regulates SLC35B2 to control sGAG production and STING activation in DNA virus response
PMID: 40926016
4
SLC35B2-mediated sulfation affects SAV1 and Hippo signaling in hepatocellular carcinoma
PMID: 38377452
5
SLC35B2-TPST2 axis promotes pancreatic cancer growth and metastasis through integrin Ξ²4 sulfation
PMID: 37192689
6
SLC35B2 expression is reduced in bipolar disorder and normalized by lithium treatment
PMID: 35501530
Disease Associationsβ“˜21
leukodystrophy, hypomyelinating, 26, with chondrodysplasiaOpen Targets
0.55Moderate
primary bone dysplasia with multiple joint dislocationsOpen Targets
0.33Weak
scoliosisOpen Targets
0.25Weak
Abnormal corpus callosum morphologyOpen Targets
0.25Weak
Abnormality of the amniotic fluidOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
Cerebral atrophyOpen Targets
0.25Weak
CNS hypomyelinationOpen Targets
0.25Weak
Intellectual disabilityOpen Targets
0.25Weak
Short long boneOpen Targets
0.25Weak
Short statureOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.19Weak
rheumatoid arthritisOpen Targets
0.08Suggestive
melanomaOpen Targets
0.06Suggestive
paralytic strabismusOpen Targets
0.06Suggestive
hypotensionOpen Targets
0.05Suggestive
Meniere diseaseOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.03Suggestive
osteoarthritis, hipOpen Targets
0.03Suggestive
androgenetic alopeciaOpen Targets
0.03Suggestive
Leukodystrophy, hypomyelinating, 26, with chondrodysplasiaUniProt
Pathogenic Variants3
NM_178148.4(SLC35B2):c.1224_1225del (p.Arg408fs)Pathogenic
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 408
NM_178148.4(SLC35B2):c.885dup (p.Lys296Ter)Pathogenic
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
β˜…β˜†β˜†β˜†2025β†’ Residue 296
NM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del)Pathogenic
Primary bone dysplasia with multiple joint dislocations|Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
β˜†β˜†β˜†β˜†2023β†’ Residue 407
View on ClinVar β†—
Related Genes
SULT4A1Protein interaction92%SLC35D3Protein interaction92%SLC35D1Protein interaction88%SLC35D2Protein interaction83%B4GALT7Protein interaction75%B3GAT3Protein interaction75%
Tissue Expression6 tissues
Liver
100%
Heart
94%
Lung
82%
Ovary
73%
Brain
72%
Bone Marrow
67%
Gene Interaction Network
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SLC35B2SULT4A1SLC35D3SLC35D1SLC35D2B4GALT7B3GAT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TB61
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.48 [0.34–0.71]
RankingsWhere SLC35B2 stands among ~20K protein-coding genes
  • #8,877of 20,598
    Most Researched50
  • #4,062of 5,498
    Most Pathogenic Variants3
  • #5,436of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedSLC35B2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Golgi apparatus-synthesized sulfated glycosaminoglycans mediate polymerization and activation of the cGAMP sensor STING.
PMID: 33857420
Immunity Β· 2021
1.00
2
Enhanced SLC35B2/SAV1 sulfation axis promotes tumor growth by inhibiting Hippo signaling in HCC.
PMID: 38377452
Hepatology Β· 2025
0.90
3
Inhibition of the SLC35B2-TPST2 Axis of Tyrosine Sulfation Attenuates the Growth and Metastasis of Pancreatic Ductal Adenocarcinom.
PMID: 37192689
Cell Mol Gastroenterol Hepatol Β· 2023
0.80
4
Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia.
PMID: 35501530
J Neural Transm (Vienna) Β· 2022
0.70
5
FBXW7 is a multifaceted regulator of the innate immune response to DNA viruses.
PMID: 40926016
Cell Mol Immunol Β· 2025
0.60