TOP6BL (TOP6B like initiator of meiotic double strand breaks)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79703
Gene name Gene Name - the full gene name approved by the HGNC.
TOP6B like initiator of meiotic double strand breaks
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOP6BL
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf80, HYDM4, TOPOVIBL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HYDM4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs779402951 ->T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT569444 hsa-miR-7108-3p PAR-CLIP 20371350
MIRT569443 hsa-miR-6828-5p PAR-CLIP 20371350
MIRT569444 hsa-miR-7108-3p PAR-CLIP 20371350
MIRT569443 hsa-miR-6828-5p PAR-CLIP 20371350
MIRT830458 hsa-miR-1262 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005694 Component Chromosome IEA
GO:0007131 Process Reciprocal meiotic recombination IBA 21873635
GO:0007131 Process Reciprocal meiotic recombination ISS
GO:0042138 Process Meiotic DNA double-strand break formation IBA 21873635
GO:0042138 Process Meiotic DNA double-strand break formation ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616109 26197 ENSG00000173715
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N6T0
Protein name Type 2 DNA topoisomerase 6 subunit B-like (TOP6B like initiator of meiotic double strand breaks) (Type 2 DNA topoisomerase VI subunit B-like) (TOPOVIBL)
Protein function [Isoform 3]: Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with SPO11, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes r
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15091 DUF4554 120 → 571 Domain of unknown function (DUF4554) Family
Tissue specificity TISSUE SPECIFICITY: Detected in lung, spleen,colon and in skeletal muscle. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401). {ECO:0000269|PubMed:18160775, ECO:0000269|PubMed:30388401}.
Sequence
Sequence length 577
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Hydatidiform Mole hydatidiform mole, recurrent, 4 GenCC
Bipolar Disorder Bipolar Disorder GWAS
Gout Gout GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA