NME8 (NME/NM23 family member 8)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51314
Gene name NME/NM23 family member 8
Gene symbol NME8
Synonyms (NCBI Gene)
CILD6DNAI8HEL-S-99NM23-H8SPTRX2TXNDC3sptrx-2
Chromosome 7
Chromosome location 7p14.1
Summary 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 s
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs121918300 T>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs146777129 A>G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT041630 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 11737268
GO:0005737 Component Cytoplasm IDA 11737268
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607421 16473 ENSG00000086288
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N427
Protein name Thioredoxin domain-containing protein 3 (3'-5' exonuclease NME8) (EC 3.1.-.-) (NM23-H8) (NME/NM23 family member 8) (Spermatid-specific thioredoxin-2) (Sptrx-2)
Protein 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. In vitro, it has neither nucleoside diphosphate kinase (NDPK) activity
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 11 → 115 Thioredoxin Domain
PF00334 NDK 155 → 236 Nucleoside diphosphate kinase Domain
PF00334 NDK 316 → 452 Nucleoside diphosphate kinase Domain
PF00334 NDK 451 → 586 Nucleoside diphosphate kinase Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific. Expressed only in primary spermatocytes and round spermatids. {ECO:0000269|PubMed:11737268}.
Sequence 
MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDE
ILHFAVAEADNIVTLQPFRDKCEPVFLFSVNGKIIEKIQGANAPLVNKKVINLIDEERKI
AAGEMARPQYPEIPLVDSDSEVSEESPCESVQELYSIAIIKPDAVISKKVLEIKRKITKA
GFIIEAEHKTVLTEEQVVNFYSRIADQCDFEEFVSFMTSGLSYILVVSQGSKHNPPSEET
EPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFM
DAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQA
LCKEYENEDYFNKLIENMTSGPSLALVLLRDNGLQYWKQLLGPRTVEEAIEYFPESLCAQ
FAMDSLPVNQLYGSDSLETAEREIQHFFPLQSTLGLIKPHATSEQREQILKIVKEAGFDL
TQVKKMFLTPEQIEKIYPKVTGKDFYKDLLEMLSVGPSMVMILTKWNAVAEWRRLMGPTD
PEEAKLLSPDSIRAQFGISKLKNIVHGASNAYEAKEVVNRLFEDPEEN
Sequence length 588
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
424
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs1530822 RCV005888358
Malignant lymphoma, large B-cell, diffuse Benign rs2722354 RCV005918478
Malignant tumor of esophagus Benign rs2722354 RCV005918477
NME8-related disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign rs1170478165, rs121918300, rs148479667, rs146777129, rs1785241444, rs753326006, rs770220386, rs142570057, rs140494494, rs201277639, rs201295247, rs371745920, rs534679328 RCV003405553
RCV003415635
RCV003906484
RCV003929989
RCV003981694
RCV003931956
RCV003972304
RCV003960031
RCV003960347
RCV004754532
RCV003892796
RCV003938262
RCV003898230
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25486118, 30258121, 33213512
Atrophy Associate 25486118
Blood Coagulation Disorders Inherited Associate 17360648
Breast Neoplasms Associate 30947698
Ciliary Motility Disorders Associate 11737268, 17360648, 18434704
Cognition Disorders Associate 25486118
Congenital Abnormalities Associate 11737268
Genetic Diseases Inborn Associate 17360648
Infertility Male Associate 11737268, 17360648
Leukemia Myelogenous Chronic BCR ABL Positive Associate 38283355