AFF3

Chr 2

ALF transcription elongation factor 3

Also known as: KINS, LAF4, MLLT2-like

NCBI Gene: 3899 ENSG00000144218 UniProt: P51826

AFF3 encodes a nuclear transcriptional activator that binds double-stranded DNA and functions in lymphoid development. Mutations cause KINSSHIP syndrome, an autosomal dominant disorder. This gene is highly constrained against loss-of-function mutations (pLI = 1.0, LOEUF = 0.22), indicating intolerance to protein-truncating variants.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtKINSSHIP syndrome

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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