TOP3A (DNA topoisomerase III alpha)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7156
Gene name Gene Name - the full gene name approved by the HGNC.
DNA topoisomerase III alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOP3A
Synonyms (NCBI Gene) Gene synonyms aliases
MGRISCE2, PEOB5, TOP3, ZGRF7
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs200944917 G>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs376902371 T>C Pathogenic Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs752838075 G>-,GG Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1288928564 C>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs1555568139 A>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(242)
miRTarBase ID miRNA Experiments Reference
MIRT046639 hsa-miR-222-3p CLASH 23622248
MIRT044415 hsa-miR-320a CLASH 23622248
MIRT680154 hsa-miR-5571-5p HITS-CLIP 23824327
MIRT680153 hsa-miR-660-3p HITS-CLIP 23824327
MIRT680152 hsa-miR-4324 HITS-CLIP 23824327
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
USF1 Activation 9748294
USF2 Activation 11557042
YY1 Activation 9748294
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IDA 23543748
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 8622991
GO:0003697 Function Single-stranded DNA binding IDA 29290614
GO:0003916 Function DNA topoisomerase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601243 11992 ENSG00000177302
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q13472
Protein name DNA topoisomerase 3-alpha (EC 5.6.2.1) (DNA topoisomerase III alpha)
Protein function Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a targ
PDB 4CGY , 4CHT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01751 Toprim 36 → 181 Toprim domain Family
PF01131 Topoisom_bac 195 → 607 DNA topoisomerase Family
PF01396 zf-C4_Topoisom 655 → 694 Topoisomerase DNA binding C4 zinc finger Family
PF06839 zf-GRF 811 → 852 GRF zinc finger Domain
PF06839 zf-GRF 895 → 939 GRF zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: High expression is found in testis, heart, skeletal muscle and pancreas.
Sequence 
MIFPVARYALRWLRRPEDRAFSRAAMEMALRGVRKVLCVAEKNDAAKGIADLLSNGRMRR
REGLSKFNKIYEFDYHLYGQNVTMVMTSVSGHLLAHDFQMQFRKWQSCNPLVLFEAEIEK
YCPENFVDIKKTLERETRQCQALVIWTDCDREGENIGFEIIHVCKAVKPNLQVLRARFSE
ITPHAVRTACENLTEPDQRVSDAVDVRQELDLRIGAAFTRFQTLRLQRIFPEVLAEQLIS
YGSCQFPTLGFVVERFKAIQAFVPEIFHRIKVTHDHKDGIVEFNWKRHRLFNHTACLVLY
QLCVEDPMATVVEVRSKPKSKWRPQALDTVELEKLASRKLRINAKETMRIAEKLYTQGYI
SYPRTETNIFPRDLNLTVLVEQQTPDPRWGAFAQSILERGGPTPRNGNKSDQAHPPIHPT
KYTNNLQGDEQRLYEFIVRHFLACCSQDAQGQETTVEIDIAQERFVAHGLMILARNYLDV
YPYDHWSDKILPVYEQGSHFQPSTVEMVDGETSPPKLLTEADLIALMEKHGIGTDATHAE
HIETIKARMYVGLTPDKRFLPGHLGMGLVEGYDSMGYEMSKPDLRAELEADLKLICDGKK
DKFVVLRQQVQKYKQVFIEAVAKAKKLDEALAQYFGNGTELAQQEDIYPAMPEPIRKCPQ
CNKDMVLKTKKNGGFYLSCMGFPECRSAVWLPDSVLEASRDSSVCPVCQPHPVYRLKLKF
KRGSLPPTMPLEFVCCIGGCDDTLREILDLRFSGGPPRASQPSGRLQANQSLNRMDNSQH
PQPADSRQTGSSKALAQTLPPPTAAGESNSVTCNCGQEAVLLTVRKEGPNRGRQFFKCNG
GSCNFFLWADSPNPGAGGPPALAYRPLGASLGCPPGPGIHLGGFGNPGDGSGSGTSCLCS
QPSVTRTVQKDGPNKGRQFHTCAKPREQQCGFFQWVDENTAPGTSGAPSWTGDRGRTLES
EARSKRPRASSSDMGSTAKKPRKCSLCHQPGHTRPFCPQNR
Sequence length 1001
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Homologous recombination
Fanconi anemia pathway 		  HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE microcephaly, growth restriction, and increased sister chromatid exchange 2 rs1555568139, rs1288928564, rs752838075 N/A
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 rs1597981046, rs200944917, rs376902371 N/A
Fatal Mitochondrial Disease Mitochondrial disease rs200944917, rs376902371 N/A
Show/Hide Unknown Diseases (2)
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
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28355294
Adenocarcinoma of Lung Associate 28355294
Alternating hemiplegia of childhood Associate 28877996, 31138797
ATR X syndrome Associate 35920001
Bloom Syndrome Associate 33631320, 35119917, 37013609
Breast Neoplasms Associate 19432957
Carcinoma Non Small Cell Lung Associate 28355294
Carcinoma Ovarian Epithelial Associate 27315793
Hearing Loss Associate 33713422
Hepatomegaly Associate 33631320