Gene Gene information from NCBI Gene database.
Entrez ID 9319
Gene name Thyroid hormone receptor interactor 13
Gene symbol TRIP13
Synonyms (NCBI Gene)
16E1BPMVA3OOMD9OZEMA9
Chromosome 5
Chromosome location 5p15.33
Summary This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in e
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs376882637 C>A,G,T Pathogenic Stop gained, missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1131692330 G>C Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
203
miRTarBase ID miRNA Experiments Reference
MIRT001491 hsa-miR-155-5p pSILAC 18668040
MIRT016349 hsa-miR-193b-3p Microarray 20304954
MIRT001491 hsa-miR-155-5p Proteomics 18668040
MIRT001491 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT024619 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001556 Process Oocyte maturation IEA
GO:0001673 Component Male germ cell nucleus IEA
GO:0003712 Function Transcription coregulator activity TAS 7776974
GO:0005515 Function Protein binding IPI 16169070, 16189514, 19060904, 21516116, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604507 12307 ENSG00000071539
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15645
Protein name Pachytene checkpoint protein 2 homolog (Human papillomavirus type 16 E1 protein-binding protein) (16E1-BP) (HPV16 E1 protein-binding protein) (Thyroid hormone receptor interactor 13) (Thyroid receptor-interacting protein 13) (TR-interacting protein 13) (T
Protein function Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis
PDB 5VQ9 , 5VQA , 5WC2 , 6F0X , 6LK0 , 7L9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 175 321 ATPase family associated with various cellular activities (AAA) Domain
Sequence
MDEAVGDLKQALPCVAESPTVHVEVHQRGSSTAKKEDINLSVRKLLNRHNIVFGDYTWTE
FDEPFLTRNVQSVSIIDTELKVKDSQPIDLSACTVALHIFQLNEDGPSSENLEEETENII
AANHWVLPAAEFHGLWDSLVYDVEVKSHLLDYVMTTLLFSDKNVNSNLITWNRVVLLHGP
PGTGKTSLCKALAQKLTIRLSSRYRYGQLIEINSHSLFSKWFSESGKLVTKMFQKIQDLI
DDKDALVFVLIDEVESLTAARNACRAGTEPSDAIRVVNAVLTQIDQIKRHSNVVILTTSN
ITEKIDVAFVDRADIKQYIGP
PSAAAIFKIYLSCLEELMKCQIIYPRQQLLTLRELEMIG
FIENNVSKLSLLLNDISRKSEGLSGRVLRKLPFLAHALYVQAPTVTIEGFLQALSLAVDK
QFEERKKLAAYI
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cell cycle  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
35
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mosaic variegated aneuploidy syndrome 3 Pathogenic rs376882637, rs1131692330 RCV000496081
RCV000496083
Oocyte maturation defect 9 Pathogenic rs759712974, rs1754056948, rs1203102465 RCV001255424
RCV001255426
RCV001255427
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TRIP13-related disorder Uncertain significance; Benign; Likely benign rs777202257, rs1035323563, rs183763272, rs948268218, rs759305318, rs1240211104, rs140779385, rs375328821, rs762906422, rs146441673, rs372479379, rs375068192, rs774804423, rs149881196, rs144634558
View all (5 more)
RCV003393063
RCV003421090
RCV003939095
RCV003956459
RCV003909119
RCV003983499
RCV003894010
RCV003892296
RCV003914598
RCV003959162
RCV003942227
RCV003976755
RCV003967198
RCV003943221
RCV003968251
RCV003958119
RCV003910681
RCV003895620
RCV003923151
RCV004756116
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 31093306
Adenocarcinoma of Lung Stimulate 33136091, 40441196
Adenocarcinoma of Lung Associate 38216586
Anemia Hemolytic Associate 31915374
Breast Neoplasms Stimulate 40441196
Carcinogenesis Associate 30720159, 31337978, 33136091, 35114976
Carcinogenesis Stimulate 31740732
Carcinoma Hepatocellular Associate 35907846, 36031387, 36785674, 40441196
Carcinoma Non Small Cell Lung Stimulate 34184074
Carcinoma Non Small Cell Lung Associate 36896765