NME8

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene (also known as the TXNDC3 gene) on chromosome 7.^[5][6]

NME8
Identifiers
Aliases	NME8, CILD6, NM23-H8, SPTRX2, TXNDC3, sptrx-2, HEL-S-99, NME/NM23 family member 8, DNAI8
External IDs	OMIM: 607421; MGI: 1920662; HomoloGene: 9593; GeneCards: NME8; OMA:NME8 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p14.1 Start 37,848,597 bp[1] End 37,900,397 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A2|13 7.0 cM Start 19,829,248 bp[2] End 19,881,964 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte testicle gonad monocyte right testis left testis sperm blood bone marrow bone marrow cell Top expressed in spermatid seminiferous tubule spermatocyte embryo Gonadal ridge bone marrow fossa ventricle of the heart islet of Langerhans lens More reference expression data BioGPS n/a
Gene ontology Molecular function microtubule binding nucleoside diphosphate kinase activity Cellular component cytoplasm sperm principal piece sperm cytoplasmic droplet outer dynein arm Biological process multicellular organism development flagellated sperm motility cellular response to reactive oxygen species cell differentiation nucleoside diphosphate phosphorylation spermatogenesis cell redox homeostasis cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51314 73412 Ensembl ENSG00000086288 ENSMUSG00000041138 UniProt Q8N427 Q715T0 RefSeq (mRNA) NM_016616 NM_001167909 NM_181591 RefSeq (protein) NP_057700 NP_001161381 NP_853622 Location (UCSC) Chr 7: 37.85 – 37.9 Mb Chr 13: 19.83 – 19.88 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function.^[5]

Clinical significance

Mutations in the TXNDC3 gene are associated with primary ciliary dyskinesia.^[7]