Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10293
Gene name Gene Name - the full gene name approved by the HGNC.
TRAF interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAIP
Synonyms (NCBI Gene) Gene synonyms aliases
RNF206, SCKL9, TRIP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCKL9
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs767664526 G>A Pathogenic Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs864622784 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022218 hsa-miR-124-3p Microarray 18668037
MIRT024554 hsa-miR-215-5p Microarray 19074876
MIRT025570 hsa-miR-34a-5p Proteomics 21566225
MIRT026188 hsa-miR-192-5p Microarray 19074876
MIRT1451312 hsa-miR-3135 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 17544371
GO:0005515 Function Protein binding IPI 17474147, 25416956, 26711499, 27462463, 31515488, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA 30165463
GO:0005730 Component Nucleolus IDA 27462463, 30165463
GO:0006915 Process Apoptotic process TAS 9104814
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605958 30764 ENSG00000183763
Protein
UniProt ID Q9BWF2
Protein name E3 ubiquitin-protein ligase TRAIP (EC 2.3.2.27) (RING finger protein 206) (TRAF-interacting protein)
Protein function E3 ubiquitin ligase required to protect genome stability in response to replication stress (PubMed:25335891, PubMed:26595769, PubMed:26711499, PubMed:26781088, PubMed:27462463, PubMed:31545170). Acts as a key regulator of interstrand cross-link
PDB 4ZTD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 5 50 Ring finger domain Domain
Sequence
MPIRALCTICSDFFDHSRDVAAIHCGHTFHLQCLIQWFETAPSRTCPQCRIQVGKRTIIN
KLFFDLAQEEENVLDAEFLKNELDNVRAQLSQKDKEKRDSQVIIDTLRDTLEERNATVVS
LQQALGKAEMLCSTLKKQMKYLEQQQDETKQAQEEARRLRSKMKTMEQIELLLQSQRPEV
EEMIRDMGVGQSAVEQLAVYCVSLKKEYENLKEARKASGEVADKLRKDLFSSRSKLQTVY
SELDQAKLELKSAQKDLQSADKEIMSLKKKLTMLQETLNLPPVASETVDRLVLESPAPVE
VNLKLRRPSFRDDIDLNATFDVDTPPARPSSSQHGYYEKLCLEKSHSPIQDVPKKICKGP
RKESQLSLGGQSCAGEPDEELVGAFPIFVRNAILGQKQPKRPRSESSCSKDVVRTGFDGL
GGRTKFIQPTDTVMIRPLPVKPKTKVKQRVRVKTVPSLFQAKLDTFLWS
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Seckel Syndrome Seckel syndrome, Seckel syndrome 9 GenCC
Diabetes Diabetes GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32121037
Arthritis Rheumatoid Inhibit 27847407
Carcinogenesis Associate 31972358
Carcinoma Basal Cell Associate 21068752
Carcinoma Basal Cell Inhibit 31972358
Carcinoma Hepatocellular Associate 31972358
DNA Virus Infections Associate 30165463
Dwarfism Associate 26595769
Embryo Loss Associate 21068752
Inflammation Inhibit 27847407