AFAP1L2

Chr 10

actin filament associated protein 1 like 2

Also known as: CTB-1144G6.4, KIAA1914, XB130

NCBI Gene: 84632ENSG00000169129UniProt: Q8N4X5OMIM: 612420

Enables SH2 domain binding activity; SH3 domain binding activity; and protein tyrosine kinase activator activity. Involved in several processes, including positive regulation of epidermal growth factor receptor signaling pathway; regulation of gene expression; and regulation of mitotic cell cycle. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

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.
2
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.49
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.002
Z-score 4.19
OE 0.31 (0.20–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.65Z-score
OE missense 0.91 (0.84–0.99)
429 obs / 468.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.20–0.49)
0≤0.351.4
Missense OE?0.91 (0.84–0.99)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 13 / 42.5Missense obs/exp: 429 / 468.9Syn Z: -0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AFAP1L2 · protein map & ClinVar variants

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

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