Gene Gene information from NCBI Gene database.
Entrez ID 81603
Gene name Tripartite motif containing 8
Gene symbol TRIM8
Synonyms (NCBI Gene)
FSGSNEDSGERPRNF27
Chromosome 10
Chromosome location 10q24.32
Summary This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations res
miRNA miRNA information provided by mirtarbase database.
157
miRTarBase ID miRNA Experiments Reference
MIRT018878 hsa-miR-335-5p Microarray 18185580
MIRT025917 hsa-miR-7-5p Microarray 19073608
MIRT051030 hsa-miR-17-5p CLASH 23622248
MIRT048914 hsa-miR-93-5p CLASH 23622248
MIRT261132 hsa-miR-656-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003713 Function Transcription coactivator activity IDA 23077300
GO:0005515 Function Protein binding IPI 19549727, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus IMP 33508234
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606125 15579 ENSG00000171206
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZR9
Protein name E3 ubiquitin-protein ligase TRIM8 (EC 2.3.2.27) (Glioblastoma-expressed RING finger protein) (RING finger protein 27) (RING-type E3 ubiquitin transferase TRIM8) (Tripartite motif-containing protein 8)
Protein function E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubMed:28747347). Participates in the activation
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15227 zf-C3HC4_4 15 55 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in glomerular podocytes of kidneys. {ECO:0000269|PubMed:33508234, ECO:0000305}.
Sequence
MAENWKNCFEEELICPICLHVFVEPVQLPCKHNFCRGCIGEAWAKDSGLVRCPECNQAYN
QKPGLEKNLKLTNIVEKFNALHVEKPPAALHCVFCRRGPPLPAQKVCLRCEAPCCQSHVQ
THLQQPSTARGHLLVEADDVRAWSCPQHNAYRLYHCEAEQVAVCQYCCYYSGAHQGHSVC
DVEIRRNEIRKMLMKQQDRLEEREQDIEDQLYKLESDKRLVEEKVNQLKEEVRLQYEKLH
QLLDEDLRQTVEVLDKAQAKFCSENAAQALHLGERMQEAKKLLGSLQLLFDKTEDVSFMK
NTKSVKILMDRTQTCTSSSLSPTKIGHLNSKLFLNEVAKKEKQLRKMLEGPFSTPVPFLQ
SVPLYPCGVSSSGAEKRKHSTAFPEASFLETSSGPVGGQYGAAGTASGEGQSGQPLGPCS
STQHLVALPGGAQPVHSSPVFPPSQYPNGSAAQQPMLPQYGGRKILVCSVDNCYCSSVAN
HGGHQPYPRSGHFPWTVPSQEYSHPLPPTPSVPQSLPSLAVRDWLDASQQPGHQDFYRVY
GQPSTKHYVTS
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Interferon gamma signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
82
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Focal segmental glomerulosclerosis Likely pathogenic; Pathogenic rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858 RCV001849526
RCV001849527
RCV001849528
RCV001849529
RCV001849831
RCV001849832
RCV001849431
RCV001849497
Focal segmental glomerulosclerosis and neurodevelopmental syndrome Pathogenic; Likely pathogenic rs2135985089, rs1386357224, rs2135984894, rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs772349788, rs2064030791, rs2492914801, rs2064032086, rs2492916342, rs866294686 RCV001549296
RCV001549297
RCV001549301
RCV001549303
RCV001549305
RCV001549307
RCV001549309
RCV003458774
RCV002052093
RCV002272907
RCV002280036
RCV002472307
RCV003334090
RCV003389304
RCV001549299
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858 RCV001849526
RCV001849527
RCV001849528
RCV001849529
RCV001849831
RCV001849832
RCV001849431
RCV001849497
Seizure Likely pathogenic; Pathogenic rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858 RCV001849526
RCV001849527
RCV001849528
RCV001849529
RCV001849831
RCV001849832
RCV001849431
RCV001849497
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TRIM8-related disorder Benign; Likely benign; Uncertain significance rs140447881, rs140859541, rs374055249, rs751046151, rs199997459, rs757862795, rs777852686, rs61758111, rs200568469, rs749088678, rs753886521, rs767650424 RCV003911323
RCV003903380
RCV003893229
RCV004754925
RCV004754929
RCV003418557
RCV003936426
RCV003963432
RCV003943624
RCV003916668
RCV003402536
RCV003893453
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 34916780
Asthma Associate 35470728
Bicuspid Aortic Valve Disease Associate 36071494
Brain Diseases Associate 34930159
Carcinogenesis Associate 26077989
Carcinoma Renal Cell Inhibit 25277184
Carcinoma Renal Cell Associate 33173411
Cholangiocarcinoma Associate 36635225
Drug Hypersensitivity Associate 32603359
Eyelid Diseases Associate 38088023