KCNIP4

Chr 4

potassium voltage-gated channel interacting protein 4

Also known as: CALP, KCHIP4

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
0.44
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.821
Z-score 3.03
OE 0.14 (0.060.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.39Z-score
OE missense 0.67 (0.560.79)
94 obs / 140.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.14 (0.060.44)
00.351.4
Missense OE?0.67 (0.560.79)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 2 / 14.4Missense obs/exp: 94 / 140.5Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KCNIP4 · 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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