Entity Details

Primary name NME8
Entity type gene
Source Source Link

Details

PrimaryID51314
RefseqGeneNG_015893
SymbolNME8
NameNME/NM23 family member 8
Chromosome7
Location7p14.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTXND3_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005930 axoneme
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0008017 microtubule binding
GO:0016607 nuclear speck
GO:0030154 cell differentiation
GO:0030317 flagellated sperm motility
GO:0034614 cellular response to reactive oxygen species
GO:0036157 outer dynein arm
GO:0060271 cilium assembly
GO:0097225 sperm midpiece
GO:0097228 sperm principal piece
GO:0097598 sperm cytoplasmic droplet

Diseases

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Disease IDSourceNameDescription
610852 OMIMCiliary dyskinesia, primary, 6 (CILD6)A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions