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

Gene ID: 79703, updated on 17-Jun-2024

Summary

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

See TOP6BL in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66744736..66843516)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 3599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3600 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 ATAC-STARR-seq lymphoblastoid silent region 3601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5057 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 ReSE screen-validated silencer GRCh37_chr11:66609109-66609235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3603 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 ATAC-STARR-seq lymphoblastoid silent region 3605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5058 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 ATAC-STARR-seq lymphoblastoid active region 5059 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

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Hydatidiform mole, recurrent, 4
MedGen: C5193094 OMIM: 618432 GeneReviews: Not available
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EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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

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_001302084.2NP_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

    Source sequence(s)
    AK302025, BC028240, BE676873
    Consensus CDS
    CCDS76440.1
    UniProtKB/Swiss-Prot
    B4DXL1, Q8N6T0, Q9H677
    UniProtKB/TrEMBL
    A0A140TA08
    Related
    ENSP00000444319.1, ENST00000540737.7
    Conserved Domains (1) summary
    pfam15091
    Location:54505
    DUF4554; Domain of unknown function (DUF4554)
  2. NM_024650.4NP_078926.4  type 2 DNA topoisomerase 6 subunit B-like isoform a

    Status: VALIDATED

    Source sequence(s)
    AP000485, AP001157
    UniProtKB/TrEMBL
    A0A2R8Y5A2, A0A2U3TZP7
    Related
    ENSP00000432039.3, ENST00000525908.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)