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FLASH GENE
Symbol NME8 contributors: mct - updated : 12-11-2015
HGNC name NME/NM23 family member 8
HGNC id 16473
Corresponding disease
ICS6 immotile cilia syndrome 6
Location 7p14.1      Physical location : -
Synonym name
  • NM23-H8
  • sperm-specific thioredoxin 2
  • thioredoxin domain containing 3 (spermatozoa)
  • epididymis secretory protein Li 99
  • Synonym symbol(s) NME8, SPTRX2, SPTRX-2, CILD6, TXNDC3, NM23-H8, HEL-S-99
    DNA
    TYPE functioning gene
    STRUCTURE 51.80 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located between D7S485 and D7S528
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2327 - 588 - 2003 12909633
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid
    Reproductivespermatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a thioredoxin domain
  • three tandemly repeated NDP-kinase domains
  • several potential phosphorylation sites
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to sea urchin IC1
    Homologene
    FAMILY group II thioredoxin family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text restricted to spermatogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage
    basic FUNCTION
  • may catalyze the conversion of nucleoside-diphosphate to nucleoside triphosphate (CTP, GTP and UTP)
  • may be a component of sperm axonemal organization
  • required during the final stages of sperm tail maturation in the testis and/or epididymis
  • TXNDC2 and NME8, retain association with the spermatozoa after spermiation and potentially play an important role in regulating the redox status of the mature gamete
  • sperm-specific thioredoxins, TXNDC2 and NME8, are critically important in protecting these cells against the increases in oxidative stress associated with paternal age
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS6
    Susceptibility
  • to osteoarthritis
  • to neurodegeneration (Alzheimer disease)
  • Variant & Polymorphism SNP
  • significant associations between 5' SNPs and osteoarthritis that hint at regulatory functions
  • NME8 rs2718058 appears to play a role in lowering the brain neurodegeneration
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS