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Aliases for NME8 Gene

Aliases for NME8 Gene

  • NME/NM23 Family Member 8 2 3 4 5
  • 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
  • TXNDC3 3 4
  • SPTRX2 3 4
  • Epididymis Secretory Protein Li 99 3
  • EC 2.1.1.31 63
  • EC 2.5.1.6 63
  • HEL-S-99 3
  • CILD6 3

External Ids for NME8 Gene

Previous HGNC 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

Regulatory Elements for NME8 Gene

Enhancers for NME8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NME8 on UCSC Golden Path with GeneCards custom track

Genomic Location for NME8 Gene

Chromosome:
7
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

Genes around NME8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NME8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NME8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NME8 Gene

Domains & Families for NME8 Gene

Gene Families for NME8 Gene

Suggested Antigen Peptide Sequences for NME8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N427

UniProtKB/Swiss-Prot:

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

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

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

Human Phenotype Ontology for NME8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NME8 Gene

MGI Knock Outs for NME8:

Animal Model Products

  • Taconic Biosciences Mouse Models for NME8

miRNA for NME8 Gene

miRTarBase miRNAs that target NME8

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NME8 Gene

Localization for NME8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NME8 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NME8 Gene COMPARTMENTS Subcellular localization image for NME8 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
golgi apparatus 2
plasma membrane 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for NME8 Gene

Pathways & Interactions 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:0006183 GTP biosynthetic process IEA --
GO:0006228 UTP biosynthetic process IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0030317 sperm motility IEA --
genes like me logo Genes that share ontologies with NME8: view

No data available for Pathways by source and SIGNOR curated interactions for NME8 Gene

Drugs & Compounds for NME8 Gene

No Compound Related Data Available

Transcripts 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 (x22.9) and Testis (x11.6).

Protein differential expression in normal tissues from HIPED for NME8 Gene

This gene is overexpressed in Testis (49.9) and Peripheral blood mononuclear cells (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NME8: view

Protein tissue co-expression partners for NME8 Gene

- Elite partner

Primer Products

Orthologs for NME8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NME8 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia NME8 35
  • 80.06 (n)
  • 68.97 (a)
NME8 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nme8 35
  • 74.27 (n)
  • 63.9 (a)
Nme8 16
Nme8 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TXNDC3 35
  • 98.64 (n)
  • 97.28 (a)
NME8 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nme8 35
  • 72.79 (n)
  • 61.86 (a)
cow
(Bos Taurus)
Mammalia NME8 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NME8 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NME8 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TXNDC3 35
  • 61.03 (n)
  • 49.47 (a)
NME8 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NME8 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nme9 35
  • 51.9 (n)
  • 40.95 (a)
zebrafish
(Danio rerio)
Actinopterygii nme8 35
  • 48.25 (n)
  • 38.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta nmdyn-D6 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(2) 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
rs10250905 - 37,867,702(+) TGTAG(C/T)GTGAC reference, missense
rs2722372 - 37,850,665(+) TTGCA(A/G)AGCAA reference, missense
VAR_036171 A breast cancer sample
rs56128139 - 37,894,544(+) GCAAA(C/T)AGAGA reference, missense
rs921396 -- 37,856,656(-) TCTCA(C/T)AAATT intron-variant

Variation tolerance for NME8 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.72; 86.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NME8 Gene

Human Gene Mutation Database (HGMD)
NME8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NME8 Gene

Disorders for NME8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NME8 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NME8 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NME8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NME8
genes like me logo Genes that share disorders with NME8: view

No data available for Genatlas for NME8 Gene

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 67
  2. Nme protein family evolutionary history, a vertebrate perspective. (PMID: 19852809) Desvignes T. … Bobe J. (BMC Evol. Biol. 2009) 2 3
  3. The human Nm23/nucleoside diphosphate kinases. (PMID: 11768308) Lacombe M.-L.L. … Lambeth D.O. (J. Bioenerg. Biomembr. 2000) 2 3
  4. A genome-wide association study of periodontitis in a Japanese population. (PMID: 25672891) Shimizu S. … Furuichi Y. (J. Dent. Res. 2015) 3
  5. Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease. (PMID: 25486118) Liu Y. … Tan L. (PLoS ONE 2014) 3

Products for NME8 Gene

Sources for NME8 Gene

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