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Aliases for NME8 Gene

Aliases for NME8 Gene

  • NME/NM23 Family Member 8 2 3 4
  • TXNDC3 3 4 6
  • SPTRX2 3 4 6
  • Thioredoxin Domain Containing 3 (Spermatozoa) 2 3
  • Spermatid-Specific Thioredoxin-2 3 4
  • Sperm-Specific Thioredoxin 2 2 3
  • Sptrx-2 3 4
  • NM23-H8 3 4
  • CILD6 3 6
  • Thioredoxin Domain-Containing Protein 3 3
  • EC 2.1.1.31 64
  • EC 2.5.1.6 64

External Ids for NME8 Gene

Previous Symbols for NME8 Gene

  • TXNDC3

Summaries for NME8 Gene

Entrez Gene Summary for NME8 Gene

  • 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. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]

GeneCards Summary for NME8 Gene

NME8 (NME/NM23 Family Member 8) is a Protein Coding gene. Diseases associated with NME8 include ciliary dyskinesia, primary, 6 and primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia. GO annotations related to this gene include nucleoside diphosphate kinase activity. An important paralog of this gene is NME7.

UniProtKB/Swiss-Prot for NME8 Gene

  • Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds

Gene Wiki entry for NME8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NME8 Gene

Genomics for NME8 Gene

Genomic Location for NME8 Gene

Start:
37,848,597 bp from pter
End:
37,900,401 bp from pter
Size:
51,805 bases
Orientation:
Plus strand

Genomic View for NME8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NME8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NME8 Gene

No data available for Regulatory Elements for NME8 Gene

Proteins for NME8 Gene

  • Protein details for NME8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N427-TXND3_HUMAN
    Recommended name:
    Thioredoxin domain-containing protein 3
    Protein Accession:
    Q8N427
    Secondary Accessions:
    • Q9NZH1

    Protein attributes for NME8 Gene

    Size:
    588 amino acids
    Molecular mass:
    67270 Da
    Quaternary structure:
    • Monomer

neXtProt entry for NME8 Gene

Proteomics data for NME8 Gene at MOPED

Selected DME Specific Peptides for NME8 Gene

Post-translational modifications for NME8 Gene

No Post-translational modifications

Other Protein References for NME8 Gene

Domains for NME8 Gene

UniProtKB/Swiss-Prot:

TXND3_HUMAN
Domain:
  • Contains 3 inactive NDK domains that each lack the active His residue, suggesting that they have no NDP kinase activity:
    • Q8N427
  • Contains 1 thioredoxin domain.:
    • Q8N427
Family:
  • In the C-terminal section; belongs to the NDK family.:
    • Q8N427
genes like me logo Genes that share domains with NME8: view

No data available for Gene Families for NME8 Gene

Function for NME8 Gene

Molecular function for NME8 Gene

UniProtKB/Swiss-Prot Function: Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds

Enzyme Numbers (IUBMB) for NME8 Gene

Gene Ontology (GO) - Molecular Function for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004550 nucleoside diphosphate kinase activity IBA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NME8: view
genes like me logo Genes that share phenotypes with NME8: view

Animal Models for NME8 Gene

MGI Knock Outs for NME8:

miRNA for NME8 Gene

miRTarBase miRNAs that target NME8

No data available for Transcription Factor Targeting and HOMER Transcription for NME8 Gene

Localization for NME8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NME8 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NME8: view

Pathways for NME8 Gene

SuperPathways for NME8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006165 nucleoside diphosphate phosphorylation IEA --
GO:0006183 GTP biosynthetic process IEA --
GO:0006228 UTP biosynthetic process IEA --
GO:0006241 CTP biosynthetic process IEA --
GO:0007275 multicellular organismal development IEA --
genes like me logo Genes that share ontologies with NME8: view

No data available for Pathways by source for NME8 Gene

Transcripts for NME8 Gene

mRNA/cDNA for NME8 Gene

Unigene Clusters for NME8 Gene

NME/NM23 family member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NME8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
SP1:
SP2: - - - - - - - -

Relevant External Links for NME8 Gene

GeneLoc Exon Structure for
NME8
ECgene alternative splicing isoforms for
NME8

Expression for NME8 Gene

mRNA expression in normal human tissues for NME8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NME8 Gene

This gene is overexpressed in Whole Blood (22.9) and Testis (11.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NME8 Gene

SOURCE GeneReport for Unigene cluster for NME8 Gene Hs.723454

mRNA Expression by UniProt/SwissProt for NME8 Gene

Q8N427-TXND3_HUMAN
Tissue specificity: Testis-specific. Expressed only in primary spermatocytes and round spermatids.
genes like me logo Genes that share expressions with NME8: view

Orthologs for NME8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NME8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NME8 37
  • 97 (a)
OneToOne
TXNDC3 36
  • 98.64 (n)
  • 97.28 (a)
cow
(Bos Taurus)
Mammalia NME8 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NME8 36
  • 80.06 (n)
  • 68.97 (a)
NME8 37
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nme8 36
  • 74.27 (n)
  • 63.9 (a)
Nme8 16
Nme8 37
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NME8 37
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NME8 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nme8 36
  • 72.79 (n)
  • 61.86 (a)
chicken
(Gallus gallus)
Aves NME8 37
  • 47 (a)
OneToOne
TXNDC3 36
  • 61.03 (n)
  • 49.47 (a)
lizard
(Anolis carolinensis)
Reptilia NME8 37
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nme9 36
  • 51.9 (n)
  • 40.95 (a)
zebrafish
(Danio rerio)
Actinopterygii nme8 36
  • 48.25 (n)
  • 38.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta nmdyn-D6 37
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 33 (a)
OneToMany
Species with no ortholog for NME8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NME8 Gene

ENSEMBL:
Gene Tree for NME8 (if available)
TreeFam:
Gene Tree for NME8 (if available)

Paralogs for NME8 Gene

Paralogs for NME8 Gene

Selected SIMAP similar genes for NME8 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NME8: view

Variants for NME8 Gene

Sequence variations from dbSNP and Humsavar for NME8 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs921396 -- 37,856,656(-) TCTCA(C/T)AAATT intron-variant
rs921397 -- 37,848,972(-) CCCTC(A/G)TTGTG utr-variant-5-prime
rs935765 -- 37,885,836(-) GCCAA(A/G)TATGG intron-variant
rs935766 -- 37,885,653(-) CCCCT(A/G)AATTG intron-variant
rs982144 -- 37,867,127(-) catcc(A/C)gctgc intron-variant

Relevant External Links for NME8 Gene

HapMap Linkage Disequilibrium report
NME8
Human Gene Mutation Database (HGMD)
NME8

No data available for Structural Variations from Database of Genomic Variants (DGV) for NME8 Gene

Disorders for NME8 Gene

(1) OMIM Diseases for NME8 Gene (607421)

UniProtKB/Swiss-Prot

TXND3_HUMAN
  • Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: 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. {ECO:0000269 PubMed:17360648}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with NME8: view

Publications for NME8 Gene

  1. Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells. (PMID: 11737268) Sadek C.M. … Miranda-Vizuete A. (Genes Cells 2001) 2 3 4 23
  2. The human Nm23/nucleoside diphosphate kinases. (PMID: 11768308) Lacombe M.-L.L. … Lambeth D.O. (J. Bioenerg. Biomembr. 2000) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Nme protein family evolutionary history, a vertebrate perspective. (PMID: 19852809) Desvignes T. … Bobe J. (BMC Evol. Biol. 2009) 2 3
  5. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. (PMID: 17360648) Duriez B. … Amselem S. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4

Products for NME8 Gene

  • Addgene plasmids for NME8

Sources for NME8 Gene

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