SLC9B2

Chr 4

solute carrier family 9 member B2

Also known as: NHA2, NHE10, NHEDC2

NCBI Gene: 133308ENSG00000164038UniProt: Q86UD5OMIM: 611789

Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.12
OE 0.52 (0.33–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.05Z-score
OE missense 1.01 (0.92–1.11)
284 obs / 281.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.52 (0.33–0.85)
0≤0.351.4
Missense OE?1.01 (0.92–1.11)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 12 / 23.0Missense obs/exp: 284 / 281.5Syn Z: 0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC9B2 · 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