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C11orf80 chromosome 11 open reading frame 80 [ Homo sapiens (human) ]

Gene ID: 79703, updated on 12-Oct-2019

Summary

Official Symbol
C11orf80provided by HGNC
Official Full Name
chromosome 11 open reading frame 80provided by HGNC
Primary source
HGNC:HGNC:26197
See related
Ensembl:ENSG00000173715 MIM:616109
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; TOP6BL; TOPOVIBL
Expression
Broad expression in skin (RPKM 13.7), testis (RPKM 6.8) and 22 other tissues See more
Orthologs

Genomic context

See C11orf80 in Genome Data Viewer
Location:
11q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66744736..66843516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66512207..66613997)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 4 Neighboring gene RNA binding motif protein 4B Neighboring gene spectrin beta, non-erythrocytic 2 Neighboring gene RNA, 7SL, cytoplasmic 12, pseudogene Neighboring gene FRA11A repeat instability region Neighboring gene complement C1q binding protein pseudogene 2 Neighboring gene ferritin light chain pseudogene 6 Neighboring gene Ras converting CAAX endopeptidase 1 Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene pyruvate carboxylase 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: CN258389 OMIM: 618432 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22531

Gene Ontology Provided by GOA

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

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

    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
    B4DXL1
    Related
    ENSP00000444319.1, ENST00000540737.6
    Conserved Domains (1) summary
    pfam15091
    Location:54505
    DUF4554; Domain of unknown function (DUF4554)
  2. NM_024650.3NP_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
    Consensus CDS
    CCDS53664.1
    UniProtKB/Swiss-Prot
    Q8N6T0
    Related
    ENSP00000354227.6, ENST00000360962.9
    Conserved Domains (1) summary
    pfam15091
    Location:220671
    DUF4554; Domain of unknown function (DUF4554)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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