SLC60A2

Chr 6

solute carrier family 60 member 2

Also known as: KIAA1919, MFSD4B, NaGLT1

NCBI Gene: 91749UniProt: Q5TF39

Predicted to enable symporter activity. Predicted to be involved in sodium ion transport and transmembrane transport. Predicted to be located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

7
ClinVar variants
7
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SLC60A2
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic of 7 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC60A2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic1
6
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————6
Likely Pathogenic
————1
VUS
————0
Likely Benign
————0
Benign
————0
Total—7

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC60A2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SLC60A2

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