Gene Gene information from NCBI Gene database.
Entrez ID 7187
Gene name TNF receptor associated factor 3
Gene symbol TRAF3
Synonyms (NCBI Gene)
CAP-1CAP1CD40bpCRAF1IIAE5IMD132AIMD132BLAP1RNF118
Chromosome 14
Chromosome location 14q32.32
Summary The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs143813189 C>T Risk-factor, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
359
miRTarBase ID miRNA Experiments Reference
MIRT006827 hsa-miR-32-5p Luciferase reporter assay 22709905
MIRT006827 hsa-miR-32-5p Luciferase reporter assay 22709905
MIRT028936 hsa-miR-26b-5p Microarray 19088304
MIRT568696 hsa-miR-662 HITS-CLIP 23824327
MIRT568695 hsa-miR-4286 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex NAS 21200404
GO:0001817 Process Regulation of cytokine production IEA
GO:0001817 Process Regulation of cytokine production ISS
GO:0002224 Process Toll-like receptor signaling pathway IDA 18222170
GO:0002224 Process Toll-like receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601896 12033 ENSG00000131323
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13114
Protein name TNF receptor-associated factor 3 (EC 2.3.2.27) (CD40 receptor-associated factor 1) (CRAF1) (CD40-binding protein) (CD40BP) (LMP1-associated protein 1) (LAP1) (RING-type E3 ubiquitin transferase TRAF3)
Protein function Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both i
PDB 1FLK , 1FLL , 1KZZ , 1L0A , 1RF3 , 1ZMS , 2ECY , 2GKW , 8T5P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02176 zf-TRAF 136 192 TRAF-type zinc finger Family
PF02176 zf-TRAF 192 251 TRAF-type zinc finger Family
Sequence
MESSKKMDSPGALQTNPPLKLHTDRSAGTPVFVPEQGGYKEKFVKTVEDKYKCEKCHLVL
CSPKQTECGHRFCESCMAALLSSSSPKCTACQESIVKDKVFKDNCCKREILALQIYCRNE
SRGCAEQLMLGHLLVHLKNDCHFEELPCVRPDCKEKVLRKDLRDHVEKACKYREATCSHC
KSQVPMIALQK
HEDTDCPCVVVSCPHKCSVQTLLRSELSAHLSECVNAPSTCSFKRYGCV
FQGTNQQIKAH
EASSAVQHVNLLKEWSNSLEKKVSLLQNESVEKNKSIQSLHNQICSFEI
EIERQKEMLRNNESKILHLQRVIDSQAEKLKELDKEIRPFRQNWEEADSMKSSVESLQNR
VTELESVDKSAGQVARNTGLLESQLSRHDQMLSVHDIRLADMDLRFQVLETASYNGVLIW
KIRDYKRRKQEAVMGKTLSLYSQPFYTGYFGYKMCARVYLNGDGMGKGTHLSLFFVIMRG
EYDALLPWPFKQKVTLMLMDQGSSRRHLGDAFKPDPNSSSFKKPTGEMNIASGCPVFVAQ
TVLENGTYIKDDTIFIKVIVDTSDLPDP
Sequence length 568
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NF-kappa B signaling pathway
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
IL-17 signaling pathway
TNF signaling pathway
Alcoholic liver disease
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Small cell lung cancer
Lipid and atherosclerosis
  TRAF3 deficiency - HSE
TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Ovarian tumor domain proteases
TICAM1-dependent activation of IRF3/IRF7
TRAF3-dependent IRF activation pathway
Negative regulators of DDX58/IFIH1 signaling
Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Herpes simplex encephalitis, susceptibility to, 3 Pathogenic rs2542619877 RCV004566621
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAF3 haploinsufficiency Pathogenic rs2542634545 RCV003325323
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAF3-related disorder Pathogenic rs2542619877 RCV004759418
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 37798663
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Stimulate 20643858
★☆☆☆☆
Found in Text Mining only
Asthma Associate 36253437
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Associate 19825990
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26981887, 32579175, 34745496
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Associate 28753533
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 28753533
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 28753533
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Associate 31539122
★☆☆☆☆
Found in Text Mining only
Cholecystitis Associate 30692554
★☆☆☆☆
Found in Text Mining only