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TOP6BL TOP6B like initiator of meiotic double strand breaks [ Homo sapiens (human) ]

Gene ID: 79703, updated on 7-Sep-2023

Summary

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Official Symbol
TOP6BLprovided by HGNC
Official Full Name
TOP6B like initiator of meiotic double strand breaksprovided by HGNC
Primary source
HGNC:HGNC:26197
See related
Ensembl:ENSG00000173715 MIM:616109; AllianceGenome:HGNC:26197
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HYDM4; C11orf80; TOPOVIBL
Summary
Predicted to be involved in meiotic DNA double-strand break formation and reciprocal meiotic recombination. Predicted to be located in chromosome. Implicated in gestational trophoblastic neoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in skin (RPKM 13.7), testis (RPKM 6.8) and 22 other tissues See more
Orthologs
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Genomic context

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See TOP6BL in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66744736..66843516)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66740985..66839790)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66512207..66610987)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66453249-66453749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66462288-66462788 Neighboring gene RNA binding motif protein 4B Neighboring gene spectrin beta, non-erythrocytic 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66487347-66488304 Neighboring gene RNA, 7SL, cytoplasmic 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66511467-66511967 Neighboring gene fragile site, folic acid type, rare, fra(11)(q13.3) Neighboring gene complement C1q binding protein pseudogene 2 Neighboring gene ferritin light chain pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66580049-66580832 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66610783-66611489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66617715-66618294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66618295-66618873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644024-66644524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644525-66645025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66645752-66646490 Neighboring gene Ras converting CAAX endopeptidase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66649447-66650184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66650185-66650922 Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene pyruvate carboxylase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66672605-66673252 Neighboring gene RNA, U7 small nuclear 23 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The molecular basis of the folate-sensitive fragile site FRA11A at 11q13. Debacker K, et al. Cytogenet Genome Res, 2007. PMID 18160775
  2. Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities. Prieto ML, et al. Transl Psychiatry, 2016 Aug 16. PMID 27529678, Free PMC Article
  3. The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation. Robert T, et al. Science, 2016 Feb 26. PMID 26917764
  4. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hydatidiform mole, recurrent, 4
MedGen: C5193094 OMIM: 618432 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22531

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in meiotic DNA double-strand break formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in meiotic DNA double-strand break formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in reciprocal meiotic recombination ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
type 2 DNA topoisomerase 6 subunit B-like
Names
type 2 DNA topoisomerase VI subunit B-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001302084.2 → NP_001289013.1  type 2 DNA topoisomerase 6 subunit B-like isoform b

    See identical proteins and their annotated locations for NP_001289013.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons, resulting in an alternate 5' UTR and translation initiation at a downstream in-frame start codon, and it also uses two alternate in-frame splice sites in the coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK302025, BC028240, BE676873
    Consensus CDS
    CCDS76440.1
    UniProtKB/Swiss-Prot
    Q8N6T0
    UniProtKB/TrEMBL
    A0A140TA08, B4DXL1
    Related
    ENSP00000444319.1, ENST00000540737.7
    Conserved Domains (1) summary
    pfam15091
    Location:54 → 505
    DUF4554; Domain of unknown function (DUF4554)

  2. NM_024650.3 → NP_078926.3  type 2 DNA topoisomerase 6 subunit B-like isoform a

    See identical proteins and their annotated locations for NP_078926.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC028240, BE676873, BI559574
    UniProtKB/Swiss-Prot
    Q8N6T0
    UniProtKB/TrEMBL
    A0A2U3TZP7
    Related
    ENSP00000432039.3, ENST00000525908.6
    Conserved Domains (1) summary
    pfam15091
    Location:220 → 671
    DUF4554; Domain of unknown function (DUF4554)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66744736..66843516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66740985..66839790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6T0.3 GenPept UniProtKB/Swiss-Prot:Q8N6T0

Gene LinkOut

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