C11orf80 Gene (Protein Coding)

Chromosome 11 Open Reading Frame 80

GC11P066744
GIFtS:
35

Aliases for C11orf80 Gene

Aliases for C11orf80 Gene

  • Chromosome 11 Open Reading Frame 80 2 3 5
  • Type 2 DNA Topoisomerase VI Subunit B-Like 3 4
  • Type 2 DNA Topoisomerase 6 Subunit B-Like 3 4
  • TOPOVIBL 3 4
  • TOP6BL 3
  • HYDM4 3

External Ids for C11orf80 Gene

Previous GeneCards Identifiers for C11orf80 Gene

  • GC11P066269
  • GC11P066512
  • GC11P062840

Summaries for C11orf80 Gene

GeneCards Summary for C11orf80 Gene

C11orf80 (Chromosome 11 Open Reading Frame 80) is a Protein Coding gene. Diseases associated with C11orf80 include Hydatidiform Mole, Recurrent, 4 and Hydatidiform Mole, Recurrent, 1.

UniProtKB/Swiss-Prot Summary for C11orf80 Gene

  • [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 relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles.

Additional gene information for C11orf80 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C11orf80 Gene

Genomics for C11orf80 Gene

GeneHancer (GH) Regulatory Elements for C11orf80 Gene

Promoters and enhancers for C11orf80 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C11orf80 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C11orf80

Top Transcription factor binding sites by QIAGEN in the C11orf80 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-4
  • GR
  • GR-alpha
  • LCR-F1
  • RSRFC4
  • Sox9
  • Spz1

Genomic Locations for C11orf80 Gene

Genomic Locations for C11orf80 Gene
chr11:66,744,451-66,843,516
(GRCh38/hg38)
Size:
99,066 bases
Orientation:
Plus strand
chr11:66,511,922-66,610,987
(GRCh37/hg19)
Size:
99,066 bases
Orientation:
Plus strand

Genomic View for C11orf80 Gene

Genes around C11orf80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf80 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for C11orf80 Gene

Proteins for C11orf80 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for C11orf80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6T0-TO6BL_HUMAN
    Recommended name:
    Type 2 DNA topoisomerase 6 subunit B-like
    Protein Accession:
    Q8N6T0
    Secondary Accessions:
    • Q9H677

    Protein attributes for C11orf80 Gene

    Size:
    577 amino acids
    Molecular mass:
    64047 Da
    Quaternary structure:
    • Isoform 3: Heterotetramer of SPO11 and 2 TOP6BL chains. Isoform 3: Interacts with SPO11.
    Miscellaneous:
    • Expansion of a polymorphic CGG repeat within the 5'-UTR of this gene may be the cause of folate-sensitive fragile site FRA11A. The expansion is identified in the 15-year-old proband with mental retardation as well as in phenotypically normal members of the family.
    • [Isoform 1]: Contains a signal peptide sequence at position 1-23.
    SequenceCaution:
    • Sequence=AAH28240.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15387.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for C11orf80 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C11orf80 Gene

Protein Expression for C11orf80 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C11orf80 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C11orf80 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C11orf80 Gene

Domains & Families for C11orf80 Gene

Gene Families for C11orf80 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf80 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf80 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55941 (B4DXL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N6T0

UniProtKB/Swiss-Prot:

TO6BL_HUMAN :
  • [Isoform 3]: Despite a weak sequence similarity, retains most of the structural features of the ancestral archaeal Top6B subunit (AC O05207), including the transducer domain that interacts with the SPO11 subunit and the ATP-binding fold, also named GHKL fold.
  • Belongs to the TOP6B-like family.
Domain:
  • [Isoform 3]: Despite a weak sequence similarity, retains most of the structural features of the ancestral archaeal Top6B subunit (AC O05207), including the transducer domain that interacts with the SPO11 subunit and the ATP-binding fold, also named GHKL fold.
Family:
  • Belongs to the TOP6B-like family.
genes like me logo Genes that share domains with C11orf80: view

Function for C11orf80 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for C11orf80 Gene

UniProtKB/Swiss-Prot 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 relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles.

Phenotypes From GWAS Catalog for C11orf80 Gene

genes like me logo Genes that share phenotypes with C11orf80: view

Animal Model Products

CRISPR Products

miRNA for C11orf80 Gene

miRTarBase miRNAs that target C11orf80

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf80 Gene

Localization for C11orf80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf80 Gene

Chromosome. Note=Localizes to meiotic chromosomes. {ECO:0000250 UniProtKB:J3QMY9}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C11orf80 gene
Compartment Confidence
cytoskeleton 3
nucleus 2
mitochondrion 1
cytosol 1
plasma membrane 0
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C11orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with C11orf80: view

Pathways & Interactions for C11orf80 Gene

PathCards logo

SuperPathways for C11orf80 Gene

No Data Available

Interacting Proteins for C11orf80 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000354227 Q8N6T0-TO6BL_HUMAN for C11orf80 Gene via STRING IID

GPS-Prot Interaction Network for C11orf80
;

Gene Ontology (GO) - Biological Process for C11orf80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007131 reciprocal meiotic recombination IBA,ISS --
GO:0042138 meiotic DNA double-strand break formation IBA,ISS --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with C11orf80: view

No data available for Pathways by source and SIGNOR curated interactions for C11orf80 Gene

Drugs & Compounds for C11orf80 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for C11orf80 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for C11orf80 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf80 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4:
SP5:
SP6: -
SP7: - - -
SP8:

Relevant External Links for C11orf80 Gene

GeneLoc Exon Structure for
C11orf80

Expression for C11orf80 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C11orf80 Gene

mRNA expression in normal human tissues for C11orf80 Gene
mRNA expression by BioGPS for C11orf80 GenemRNA expression by GTEx for C11orf80 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C11orf80 Gene

This gene is overexpressed in Tlymphocyte (46.7) and Heart (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C11orf80 Gene



Protein tissue co-expression partners for C11orf80 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C11orf80

SOURCE GeneReport for Unigene cluster for C11orf80 Gene:

Hs.292088

mRNA Expression by UniProt/SwissProt for C11orf80 Gene:

Q8N6T0-TO6BL_HUMAN
Tissue specificity: Detected in lung, spleen,colon and in skeletal muscle. Expressed in the ovaries, Fallopian tubes and uterus (PubMed:30388401).

Evidence on tissue expression from TISSUES for C11orf80 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with C11orf80: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C11orf80 Gene

Orthologs for C11orf80 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C11orf80 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia C11H11orf80 30
  • 99.02 (n)
C11orf80 31
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia C29H11orf80 30
  • 82.45 (n)
C11orf80 31
  • 72 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia C18H11orf80 30
  • 80.87 (n)
C11orf80 31
  • 75 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gm960 17 31 30
  • 74.64 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia C11orf80 31
  • 39 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii zgc:195212 30
  • 40.67 (n)
C14H11orf80 31
  • 19 (a)
 OneToOne
Species where no ortholog for C11orf80 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C11orf80 Gene

ENSEMBL:
Gene Tree for C11orf80 (if available)
TreeFam:
Gene Tree for C11orf80 (if available)

Paralogs for C11orf80 Gene

(42) SIMAP similar genes for C11orf80 Gene using alignment to 13 proteins:

  • CK080_HUMAN
  • B4DXL1_HUMAN
  • C9JZP8_HUMAN
  • E9PIE7_HUMAN
  • E9PJS1_HUMAN
  • E9PKM2_HUMAN
  • E9PMI8_HUMAN
  • E9PMU2_HUMAN
  • E9PNG9_HUMAN
  • H0YD22_HUMAN
  • H0YD55_HUMAN
  • H0YDL3_HUMAN
  • H0YE21_HUMAN
genes like me logo Genes that share paralogs with C11orf80: view

No data available for Paralogs for C11orf80 Gene

Variants for C11orf80 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C11orf80 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1449401018 Pathogenic: HYDATIDIFORM MOLE, RECURRENT, 4 66,822,606(+) T/C MISSENSE_VARIANT
rs779402951 Pathogenic: HYDATIDIFORM MOLE, RECURRENT, 4 66,801,039(+) A/AT NONSENSE
VAR_082606 Hydatidiform mole, recurrent, 4 (HYDM4) [MIM:618432] p.Ser401Pro

Additional dbSNP identifiers (rs#s) for C11orf80 Gene

Structural Variations from Database of Genomic Variants (DGV) for C11orf80 Gene

Variant ID Type Subtype PubMed ID
esv2665794 CNV deletion 23128226
esv2744640 CNV deletion 23290073
esv2744642 CNV deletion 23290073
esv3547920 CNV deletion 23714750
esv3626698 CNV loss 21293372
nsv1134146 CNV deletion 24896259
nsv364 CNV insertion 18451855
nsv468602 CNV loss 19166990
nsv508638 CNV deletion 20534489
nsv516087 CNV gain 19592680
nsv555225 CNV loss 21841781
nsv555226 CNV gain 21841781
nsv951020 CNV deletion 24416366

Variation tolerance for C11orf80 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf80 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf80 Gene

Disorders for C11orf80 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C11orf80 Gene - From: OMIM, ClinVar, GTR, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TO6BL_HUMAN
  • Hydatidiform mole, recurrent, 4 (HYDM4) [MIM:618432]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269 PubMed:30388401}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C11orf80

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C11orf80: view

No data available for Genatlas for C11orf80 Gene

Publications for C11orf80 Gene

  1. The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation. (PMID: 26917764) Robert T … de Massy B (Science (New York, N.Y.) 2016) 2 3 4 54
  2. The molecular basis of the folate-sensitive fragile site FRA11A at 11q13. (PMID: 18160775) Debacker K … Kooy F (Cytogenetic and genome research 2007) 2 3 4 54
  3. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 41 54
  4. Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles. (PMID: 30388401) Nguyen NMP … Slim R (American journal of human genetics 2018) 4 54
  5. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. (PMID: 27433848) Malik S … Nakanishi A (Cell cycle (Georgetown, Tex.) 2016) 3 54

ExternalLinks

View latest publications for C11orf80 gene in Mastermind

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