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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
352
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Herpes simplex encephalitis, susceptibility to, 3 Pathogenic rs2542619877 RCV004566621
TRAF3 haploinsufficiency Pathogenic rs2542634545 RCV003325323
TRAF3-related disorder Pathogenic rs2542619877 RCV004759418
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ependymoma Uncertain significance rs145456077 RCV000577847
Familial cancer of breast Benign rs2273393 RCV005927757
Immunodeficiency 132b Uncertain significance rs1566789877 RCV005208146
Multisystem inflammatory syndrome in children Uncertain significance rs551555655 RCV001779432
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37798663
Alzheimer Disease Stimulate 20643858
Asthma Associate 36253437
Breast Neoplasms Associate 19825990
Carcinoma Hepatocellular Associate 26981887, 32579175, 34745496
Cardiomegaly Associate 28753533
Cardiovascular Diseases Associate 28753533
Cerebral Infarction Associate 28753533
Cholangiocarcinoma Associate 31539122
Cholecystitis Associate 30692554