Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HORMAD2 contributors: mct - updated : 01-06-2018
HGNC name HORMA domain containing 2
HGNC id 28383
Location 22q12.2      Physical location : 30.476.452 - 30.573.058
Synonym symbol(s) MGC26710, CT46.2
DNA
TYPE functioning gene
STRUCTURE 127.36 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 1909 35.3 307 - 2004 15461802
12 - 2349 - 307 - 2004 15461802
10 - 2267 - 219 - 2004 15461802
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   lowly Homo sapiens
Reproductivemale systemtestis  predominantly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
cell cycle     cell cycle, M
life cycle
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one horma domain
  • HOMOLOGY
    interspecies ortholog to murine Hormad21
    intraspecies paralog to HORMAD1
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text
  • synapsis of meiotic chromosomes
  • localizes to unsynapsed meiotic chromosomes
  • basic FUNCTION
  • probable constituent of the synaptonemal complex during meiosis
  • regulate interactions between homologous chromosomes (homologs) during meiosis in a wide range of eukaryotes
  • meiotic HORMA-domain proteins are required to direct double-strand breaks repair towards homologues
  • involvement of meiotic HORMA-domain proteins in the regulation of homologue interactions is conserved in mammals
  • HORMAD2-dependent recruitment of ATR to unsynapsed chromosome axes constitutes a mechanism for the surveillance of asynapsis
  • SYCP3 and the SYCP2 C terminus, form a compact core around which cohesin complexes, HORMADs, HORMAD1, and HORMAD2 and the N terminus of SYCP2 are arrayed
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with RED1
  • HORMAD2-dependent quality control mechanism that recognizes unsynapsis and recruits ATR activity during mammalian meiosis
  • HORMAD1 binds a motif found both at its own C terminus and at that of HORMAD2, indicating that this mode of intermolecular association is a conserved feature of meiotic chromosome structure
  • TRIP13 regulates both MAD2L1 and meiotic HORMAD1, HORMAD2 by disassembling these HORMA domain-closure motif complexes
  • TRIP13 is a negative regulator of the HORMA proteins, including HORMAD1 and HORMAD2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • male Hormad2-deficient mice are infertile due to spermatocyte loss as a result of characteristic impairment of sex body formation