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

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, Nov 2024]
Expression: Broad expression in skin (RPKM 13.7), testis (RPKM 6.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66744769..66843516)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66741018..66839790)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66512240..66610987)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Top association findings suggested that the bipolar disorder risk allele at SNP rs10896235 in C11orf80 may be associated with increased risk of headache, including migraine.
Title: Leveraging electronic health records to study pleiotropic effects on bipolar disorder and medical comorbidities.

Submit: New GeneRIF Correction

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PC (e-PCR)
- UniSTS:49448

SHGC-105288 (e-PCR)
- UniSTS:169277

SHGC-30028 (e-PCR)
- UniSTS:48451

RH46345 (e-PCR)
- UniSTS:19528

GDB:197884 (e-PCR)
- UniSTS:155987

D19Ertd98e (e-PCR), detects polymorphism
- UniSTS:167259

RH16038 (e-PCR)
- UniSTS:78964

SHGC-144078 (e-PCR)
- UniSTS:172164

RH65295 (e-PCR)
- UniSTS:88298

RH98933 (e-PCR)
- UniSTS:87550

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

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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.