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 c... See more...

Aliases for NME8 Gene

Aliases for NME8 Gene

  • NME/NM23 Family Member 8 2 3 4 5
  • NM23-H8 2 3 4
  • SPTRX2 2 3 4
  • Thioredoxin Domain Containing 3 (Spermatozoa) 2 3
  • Thioredoxin Domain-Containing Protein 3 3 4
  • Spermatid-Specific Thioredoxin-2 3 4
  • Sperm-Specific Thioredoxin 2 2 3
  • Sptrx-2 3 4
  • TXNDC3 3 4
  • CILD6 2 3
  • Epididymis Secretory Protein Li 99 3
  • EC 2.1.1.31 51
  • EC 2.5.1.6 51
  • HEL-S-99 3
  • NME8 5

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. Gene Ontology (GO) annotations related to this gene include nucleoside diphosphate kinase activity. An important paralog of this gene is NME9.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NME8 Gene

Genomics for NME8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NME8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J037663 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -183.1 -183097 5.4 CEBPG REST CEBPA CEBPB SP1 ATF3 NR3C1 JUN RCOR1 GABPA NME8 GPR141 lnc-GPR141-3 piR-50391-016 ELMO1
GH07J037682 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 7.1 -164.3 -164314 3.4 SP1 BACH1 TCF12 IKZF2 RCOR1 TRIM22 PKNOX1 EED DPF2 RELB EPDR1 GPR141 lnc-GPR141-2 piR-50391-016 ENSG00000201566 ENSG00000200113 NME8 lnc-GPR141-3 RF01061-158
GH07J037690 Promoter/Enhancer 1.1 FANTOM5 Ensembl dbSUPER 8 -158.3 -158296 1.8 ZNF512 TRIM22 SPI1 ZNF507 POLR2A MTA2 MYC MLLT1 STARD3NL NME8 GPR141 ELMO1 EPDR1 lnc-GPR141-2 lnc-GPR141-3 RF01061-158
GH07J037786 Enhancer 1 Ensembl ENCODE 8.1 -61.6 -61596 2.4 SP1 BACH1 STAT3 RELA TCF12 IKZF2 RCOR1 EED ARID3A DPF2 NME8 GPR141BP MN298386 lnc-SFRP4-3 lnc-GPR141-2 EPDR1 GPR141 lnc-GPR141-3
GH07J037732 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -116.3 -116296 2.2 CEBPG CTCF ZNF143 RAD21 TRIM22 CEBPA CEBPB BCLAF1 ZBTB40 JUN RF01061-158 RF01061-159 GPR141 EPDR1 ELMO1 NME8 lnc-GPR141-2 lnc-GPR141-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NME8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NME8

Genomic Locations for NME8 Gene

Genomic Locations for NME8 Gene
chr7:37,848,597-37,900,397
(GRCh38/hg38)
Size:
51,801 bases
Orientation:
Plus strand
chr7:37,888,199-37,940,003
(GRCh37/hg19)
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

Selected DME Specific Peptides for NME8 Gene

Q8N427:
  • KEVVNRL
  • ILKIVKE

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NME8 Gene

InterPro:
Blocks:
  • Nucleoside diphosphate kinase
  • Thioredoxin type domain
ProtoNet:

Suggested Antigen Peptide Sequences for NME8 Gene

GenScript: Design optimal peptide antigens:
  • Spermatid-specific thioredoxin-2 (TXND3_HUMAN)

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.
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

Phenotypes From GWAS Catalog for NME8 Gene

Gene Ontology (GO) - Molecular Function for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IDA 17360648
genes like me logo Genes that share ontologies with NME8: view
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:
  • Nme8 Nme8<tm1.1Arte>

Animal Model Products

  • Taconic Biosciences Mouse Models for NME8

CRISPR Products

miRNA for NME8 Gene

miRTarBase miRNAs that target NME8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NME8

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NME8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
plasma membrane 2
nucleus 2
golgi apparatus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0036157 outer dynein arm IMP 17360648
GO:0097228 sperm principal piece IEA --
GO:0097598 sperm cytoplasmic droplet IEA --
genes like me logo Genes that share ontologies with NME8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NME8 Gene

Pathways & Interactions for NME8 Gene

PathCards logo

SuperPathways for NME8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NME8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0030317 flagellated sperm motility IEA --
GO:0034614 cellular response to reactive oxygen species 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

mRNA/cDNA for NME8 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NME8

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

Expression for NME8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for NME8 Gene



Protein tissue co-expression partners for NME8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NME8

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.

Evidence on tissue expression from TISSUES for NME8 Gene

  • Nervous system(4.6)
  • Eye(2.8)
  • Lung(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NME8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns 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 TXNDC3 30
  • 98.64 (n)
NME8 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NME8 30 31
  • 80.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nme8 30 17 31
  • 74.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nme8 30
  • 72.79 (n)
Cow
(Bos Taurus)
Mammalia NME8 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NME8 31
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NME8 31
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TXNDC3 30
  • 61.03 (n)
NME8 31
  • 47 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NME8 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nme9 30
  • 51.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii nme8 30
  • 48.25 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta nmdyn-D6 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for NME8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NME8: view image

Paralogs for NME8 Gene

Paralogs for NME8 Gene

(2) SIMAP similar genes for NME8 Gene using alignment to 4 proteins:

  • TXND3_HUMAN
  • C9JG62_HUMAN
  • C9JIT0_HUMAN
  • F8WEA2_HUMAN
genes like me logo Genes that share paralogs with NME8: view

Variants for NME8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NME8 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
643950 Uncertain Significance: Ciliary dyskinesia, primary, 6 37,857,319(+) T/A MISSENSE_VARIANT
645844 Uncertain Significance: Ciliary dyskinesia, primary, 6 37,876,980(+) C/A SYNONYMOUS_VARIANT
649144 Uncertain Significance: Ciliary dyskinesia, primary, 6 37,885,236(+) G/A MISSENSE_VARIANT
651277 Uncertain Significance: Ciliary dyskinesia, primary, 6 37,896,913(+) G/C MISSENSE_VARIANT
651928 Uncertain Significance: Ciliary dyskinesia, primary, 6 37,876,978(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NME8 Gene

Structural Variations from Database of Genomic Variants (DGV) for NME8 Gene

Variant ID Type Subtype PubMed ID
dgv1281e214 CNV loss 21293372
esv24163 CNV gain 19812545
esv2734271 CNV deletion 23290073
esv2761091 CNV gain 21179565
esv3612864 CNV gain 21293372
nsv1148776 CNV insertion 26484159
nsv606623 CNV loss 21841781
nsv8074 CNV loss 18304495
nsv951633 CNV deletion 24416366

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)

Additional Variant Information for NME8 Gene

Human Gene Mutation Database (HGMD)
NME8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NME8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NME8 Gene

Disorders for NME8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NME8 Gene - From: OMIM, ClinVar, GTR, Orphanet, 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.
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 CM … Miranda-Vizuete A (Genes to cells : devoted to molecular & cellular mechanisms 2001) 2 3 4 23
  2. The human Nm23/nucleoside diphosphate kinases. (PMID: 11768308) Lacombe ML … Lambeth DO (Journal of bioenergetics and biomembranes 2000) 2 3 4
  3. Nme protein family evolutionary history, a vertebrate perspective. (PMID: 19852809) Desvignes T … Bobe J (BMC evolutionary biology 2009) 2 3
  4. 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 (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for NME8 Gene

  • Signalway Proteins for NME8

Sources for NME8 Gene