TRAF2 Gene: TNF Receptor-Associated Factor 2

A central adaptor protein in TNF receptor signaling, NF-κB activation, and immune regulation

Gene Information Card

Symbol TRAF2
Full Name TNF receptor-associated factor 2
Gene Type protein-coding
Chromosomal Location 9q34.3
NCBI Gene ID 7186 ncbi.nlm.nih.gov/gene/7186
Ensembl ID ENSG00000127191
UniProt ID Q12933
OMIM ID 601895
HGNC ID 12032
Aliases TRAP3, MGC:45012

Description

TRAF2 (TNF receptor-associated factor 2) encodes a member of the TNF receptor-associated factor (TRAF) protein family. TRAF2 is a critical adaptor protein that mediates signal transduction from TNF receptors (TNFR1 and TNFR2) and other receptors, leading to activation of NF-κB and MAPK pathways. It plays a key role in regulating inflammation, apoptosis, and immune responses. TRAF2 contains a RING finger domain, zinc finger domains, and a TRAF domain, which mediate protein-protein interactions and ubiquitin ligase activity.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Inflammatory diseases TRAF2 regulates NF-κB activation; dysregulation leads to chronic inflammation PMID: 15616592
Autoimmune diseases TRAF2 modulates T cell responses; altered expression linked to autoimmunity PMID: 20037584
Cancer TRAF2 promotes cell survival via NF-κB; overexpression in various tumors PMID: 21199817
Immunodeficiency TRAF2 mutations impair immune signaling, causing susceptibility to infections PMID: 27693356

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 12.5 High
Spleen 11.8 High
Bone marrow 10.2 High
Lung 7.5 Medium
Liver 6.3 Medium
Brain 3.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
K562 12.8 Leukemia cell line
A549 9.4 Lung carcinoma
HepG2 7.1 Liver cancer
MCF7 6.5 Breast cancer
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1120C>T (p.Arg374Ter) Nonsense Rare Truncated protein, loss of function
c.1015A>G (p.Lys339Glu) Missense Rare Impaired NF-κB activation
c.1483C>T (p.Arg495Cys) Missense Rare Altered TRAF domain function
c.2005_2006insA Frameshift Rare Loss of function
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations impair TRAF2's ability to activate NF-κB, leading to defective immune responses and increased apoptosis.

Gain of Function (GOF)

Gain-of-function mutations are rare but may enhance NF-κB signaling, contributing to oncogenesis.

Dominant Negative (DN)

Dominant-negative mutations can interfere with wild-type TRAF2 function, disrupting TNF signaling.

Gene Ontology (GO)

• protein binding • ubiquitin protein ligase activity
• signal transducer activity • zinc ion binding
• NF-κB activation • apoptotic process
• immune response • TNF receptor binding

Pathways

TNF signaling pathway
NF-κB signaling pathway
MAPK signaling pathway
Apoptosis
RIG-I-like receptor signaling pathway

Protein Summary

TRAF2 is a 501-amino acid protein with a molecular weight of approximately 56 kDa. It contains a RING finger domain (residues 1-100), two zinc finger domains (residues 100-200), and a TRAF domain (residues 300-501) that mediates trimerization and interaction with receptors. TRAF2 functions as an E3 ubiquitin ligase, catalyzing K63-linked polyubiquitination of itself and other substrates, leading to activation of TAK1 and IKK complexes, ultimately activating NF-κB. It also interacts with cIAP1/2 to regulate apoptosis.

Related Products

Product name Cat.No. Species Gene ID
TRAF2 Knockout HEK293 Cell Line EDJ-KQ601 Human 7186 Details Get a Quote
TRAF2 Knockout A-549 Cell Line EDJ-KQ19043 Human 7186 Details Get a Quote
TRAF2 Knockout HCT 116 Cell Line EDJ-KQ19044 Human 7186 Details Get a Quote
TRAF2 Knockout HeLa Cell Line EDJ-KQ19045 Human 7186 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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