FADD

Chr 11q13.3

Fas associated via death domain

Aliases:: MORT1, GIG3
MANE:: ENST00000301838.5

OMIM: 602457 ↗NCBI: 8772 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FADD · Q13158

v62025-08-01

Predicted Aligned Error matrix for FADD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.1/ 100

Confident

208 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)67%
Low(50–70)26%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

FADD-related immunodeficiency
0.66
congenital heart malformation
0.46
hereditary disease
0.42
head and neck squamous cell carcinoma
0.21
hepatocellular carcinoma
0.21
lung carcinoma
0.20
lung adenocarcinoma
0.19
gastric carcinoma
0.19
colon adenocarcinoma
0.19
clear cell renal carcinoma
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

FAS-associated death domain protein

Apoptotic adapter molecule that recruits caspases CASP8 or CASP10 to the activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:23955153, PubMed:24025841, PubMed:7538907, PubMed:9184224). The resulting aggregate called the death-inducing signaling complex (DISC) performs CASP8 proteolytic activation (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:7538907, PubMed:9184224). Active CASP8 initiates the subsequent cascade of caspases mediating apoptosis (PubMed:16762833). Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling (PubMed:21109225, PubMed:24204270)