SLC35B3

Chr 6

solute carrier family 35 member B3

Also known as: C6orf196, CGI-19, PAPST2

NCBI Gene: 51000ENSG00000124786UniProt: Q9H1N7

This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.40
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.000
Z-score 0.31
OE 0.92 (0.62–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.90 (0.80–1.02)
184 obs / 204.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.62–1.40)
0≤0.351.4
Missense OE?0.90 (0.80–1.02)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 16 / 17.4Missense obs/exp: 184 / 204.1Syn Z: 1.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC35B3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients