• Gene id: 51314

Gene Summary

• Gene Symbol: NME8   Gene   UCSC   Ensembl
• Aliases: CILD6, HEL-S-99, NM23-H8, SPTRX2, TXNDC3, sptrx-2
• Gene name: NME/NM23 family member 8
• Alternate names: thioredoxin domain-containing protein 3, epididymis secretory protein Li 99, sperm-specific thioredoxin 2, spermatid-specific thioredoxin-2, thioredoxin domain containing 3 (spermatozoa),
• Gene location: 7p14.1 (37848596: 37900400)     Exons: 18     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607421

SNPs

rs121918300

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

Protein Summary

• Protein general information: Q8N427  
  • Name: Thioredoxin domain containing protein 3 (NM23 H8) (NME/NM23 family member 8) (Spermatid specific thioredoxin 2) (Sptrx 2)
  • Length: 588  
  • Mass: 67,270
• Sequence:

  MASKKREVQLQTVINNQSLWDEMLQNKGLTVIDVYQAWCGPCRAMQPLFRKLKNELNEDEILHFAVAEADNIVTL
  QPFRDKCEPVFLFSVNGKIIEKIQGANAPLVNKKVINLIDEERKIAAGEMARPQYPEIPLVDSDSEVSEESPCES
  VQELYSIAIIKPDAVISKKVLEIKRKITKAGFIIEAEHKTVLTEEQVVNFYSRIADQCDFEEFVSFMTSGLSYIL
  VVSQGSKHNPPSEETEPQTDTEPNERSEDQPEVEAQVTPGMMKNKQDSLQEYLERQHLAQLCDIEEDAANVAKFM
  DAFFPDFKKMKSMKLEKTLALLRPNLFHERKDDVLRIIKDEDFKILEQRQVVLSEKEAQALCKEYENEDYFNKLI
  ENMTSGPSLALVLLRDNGLQYWKQLLGPRTVEEAIEYFPESLCAQFAMDSLPVNQLYGSDSLETAEREIQHFFPL
  QSTLGLIKPHATSEQREQILKIVKEAGFDLTQVKKMFLTPEQIEKIYPKVTGKDFYKDLLEMLSVGPSMVMILTK
  WNAVAEWRRLMGPTDPEEAKLLSPDSIRAQFGISKLKNIVHGASNAYEAKEVVNRLFEDPEEN

• Structural information:
  • Protein Domains: Thioredoxin. (2-119)
  • Interpro: IPR034907  IPR036850  IPR036249  IPR017937  IPR013766  
  • Prosite: PS00194 PS51352
  • STRING: ENSP00000199447
• Other Databases: GeneCards:  NME8  Malacards:  NME8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006165	nucleoside diphosphate phosphorylation	IEA	biological process
GO:0006183	GTP biosynthetic process	IEA	biological process
GO:0006228	UTP biosynthetic process	IEA	biological process
GO:0006241	CTP biosynthetic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008017	microtubule binding	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0097228	sperm principal piece	IEA	cellular component
GO:0097598	sperm cytoplasmic droplet	IEA	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IBA	biological process
GO:0004550	nucleoside diphosphate kinase activity	IEA	molecular function
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006165	nucleoside diphosphate phosphorylation	IEA	biological process
GO:0006183	GTP biosynthetic process	IEA	biological process
GO:0006228	UTP biosynthetic process	IEA	biological process
GO:0006241	CTP biosynthetic process	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008017	microtubule binding	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0034614	cellular response to reactive oxygen species	IEA	biological process
GO:0036157	outer dynein arm	IMP	cellular component
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0097228	sperm principal piece	IEA	cellular component
GO:0097598	sperm cytoplasmic droplet	IEA	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IBA	biological process
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0036157	outer dynein arm	IMP	cellular component
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IBA	biological process

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG: H00564
Flagellar anomalies	MIK: 11737268
Male factor infertility	MIK: 11737268
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Flagellar anomalies, Male infertility	MIK: 11737268
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11737268	Flagellar anomalies, Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R