TRAF7

Chr 16

TNF receptor associated factor 7

Also known as: CAFDADD, RFWD1, RNF119

NCBI Gene: 84231 ENSG00000131653 UniProt: Q6Q0C0

TRAF7 encodes an E3 ubiquitin and SUMO-protein ligase that regulates innate immunity, inflammation, and apoptosis through protein modification and degradation pathways. Autosomal dominant mutations cause cardiac, facial, and digital anomalies with developmental delay, representing a recognizable multiple congenital anomaly syndrome. This condition affects multiple organ systems with congenital malformations apparent from birth.

ResearchSummary from RefSeq, OMIM, UniProt

Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiac, facial, and digital anomalies with developmental delay

Clinical highlights

Gene-disease validity (ClinGen)

syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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