Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9319
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor interactor 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIP13
Synonyms (NCBI Gene) Gene synonyms aliases
16E1BP, MVA3, OOMD9, OZEMA9
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604507 12307 ENSG00000071539
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mosaic Variegated Aneuploidy mosaic variegated aneuploidy syndrome 3 rs376882637, rs1131692330 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oocyte Maturation Defect oocyte maturation defect 9 N/A N/A GenCC
Stress Disorder Post-traumatic stress disorder N/A N/A GWAS
Wilms tumor kidney Wilms tumor N/A N/A GenCC
Associations from Text Mining Disease 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