NME8 (NME/NM23 family member 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51314
Gene name Gene Name - the full gene name approved by the HGNC.
NME/NM23 family member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NME8
Synonyms (NCBI Gene) Gene synonyms aliases
CILD6, DNAI8, HEL-S-99, NM23-H8, SPTRX2, TXNDC3, sptrx-2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez 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 s
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607421 16473 ENSG00000086288
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ciliary dyskinesia Primary ciliary dyskinesia 6, primary ciliary dyskinesia, primary ciliary dyskinesia 6 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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