NKAIN2

Chr 6

sodium/potassium transporting ATPase interacting 2

Also known as: FAM77B, NKAIP2, TCBA, TCBA1

This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.024
Z-score 2.18
OE 0.37 (0.190.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.02Z-score
OE missense 0.74 (0.620.88)
88 obs / 119.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.190.77)
00.351.4
Missense OE?0.74 (0.620.88)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 5 / 13.7Missense obs/exp: 88 / 119.3Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NKAIN2 · 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

No active trials found for this gene.

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