KIAA1549L

Chr 11

KIAA1549 like

Also known as: C11orf41, C11orf69, G2

NCBI Gene: 25758ENSG00000110427UniProt: Q6ZVL6

The KIAA1549L protein is predicted to be located in cellular membranes, though its specific function remains unclear. This gene is extremely intolerant to loss-of-function variants (pLI ~0, LOEUF 0.5), suggesting that mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with KIAA1549L mutations in the literature to date.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
20
P/LP submissions
0%
P/LP missense
0.50
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— KIAA1549L
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 unique Pathogenic / Likely Pathogenic· 260 VUS of 314 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.50LOEUF
pLI 0.000
Z-score 4.94
OE 0.36 (0.26–0.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.30Z-score
OE missense 0.89 (0.84–0.94)
925 obs / 1043.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.36 (0.26–0.50)
0≤0.351.4
Missense OE0.89 (0.84–0.94)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 25 / 69.4Missense obs/exp: 925 / 1043.2Syn Z: -0.86
DN
0.6646th %ile
GOF
0.6930th %ile
LOF
0.4037th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

314 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
VUS260
Likely Benign17
Benign4
20
Pathogenic
260
VUS
17
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
20
0
20
Likely Pathogenic
0
0
0
0
0
VUS
0
250
10
0
260
Likely Benign
0
11
0
6
17
Benign
0
1
0
3
4
Total0262309301

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KIAA1549L · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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