NME8 NME/NM23 family member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NME8provided by HGNC
Official Full Name: NME/NM23 family member 8provided by HGNC
Primary source: HGNC:HGNC:16473
See related: Ensembl:ENSG00000086288 MIM:607421; AllianceGenome:HGNC:16473
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99
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 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]
Expression: Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (37848597..37900397)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (37989652..38041414)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (37888199..37939999)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
Title: Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
Studies suggest that the rs2718058 near gene NME8 on chromosome 7p14.1 might not play a major role in the genetic predisposition to late-onset Alzheimer's disease (LOAD) in the North Han Chinese.
Title: NME8 rs2718058 polymorphism with Alzheimer's disease risk: a replication and meta-analysis.
Addition of the minor allele for rs670139 (MS4A4E), rs9331896 (CLU), and rs12155159 (NME8) was nominally associated with change on the DWRT, DSST, and WFT, respectively, in whites.
Title: Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study.
NME8 locus polymorphism is associated with cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease.
Title: Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer's disease.
GPR141-NME8 locus had strong genetic effect on the susceptibility to generalized periodontitis in Japanese individuals with history of smoking. identified 2 suggestive loci for periodontitis in a Japanese population.
Title: A genome-wide association study of periodontitis in a Japanese population.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
Title: Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.
The minor allele frequencies of TXNDC3 in East Asian individuals are significantly different from those in United Kingdom control individuals.
Title: Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic association analysis of RHOB and TXNDC3 in osteoarthritis.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary ciliary dyskinesia 6 MedGen: C1970506 OMIM: 610852 GeneReviews: Primary Ciliary Dyskinesia	Compare labs

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to reactive oxygen species	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of outer dynein arm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in sperm cytoplasmic droplet	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: thioredoxin domain-containing protein 3

Names: 3'-5' exonuclease NME8; epididymis secretory protein Li 99; sperm-specific thioredoxin 2; spermatid-specific thioredoxin-2; thioredoxin domain containing 3 (spermatozoa)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_015893.1 RefSeqGene

Range

5001..56801

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016616.5 → NP_057700.3 thioredoxin domain-containing protein 3

See identical proteins and their annotated locations for NP_057700.3

Status: REVIEWED

Source sequence(s)

AF202051, BC036816

Consensus CDS

CCDS5452.1

UniProtKB/Swiss-Prot

Q8N427, Q9NZH1

UniProtKB/TrEMBL

A0A0K0K1K2

Related

ENSP00000199447.4, ENST00000199447.9

Conserved Domains (3) summary

smart00562
Location:451 → 586

NDK; Enzymes that catalyze nonsubstrate specific conversions of nucleoside diphosphates to nucleoside triphosphates

cd02948
Location:11 → 113

TRX_NDPK; TRX domain, TRX and NDP-kinase (NDPK) fusion protein family; most members of this group are fusion proteins which contain one redox active TRX domain containing a CXXC motif and three NDPK domains, and are characterized as intermediate chains (ICs) of ...

cd04416
Location:451 → 582

NDPk_TX; NDP kinase domain of thioredoxin domain-containing proteins (TXNDC3 and TXNDC6): Txl-2 (TXNDC6) and Sptrx-2 (TXNDC3) are fusion proteins of Group II N-terminal thioredoxin domains followed by one or three NDP kinase domains, respectively. Sptrx-2, which ...