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

Gene ID: 51314, updated on 2-Oct-2018

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; Vega:OTTHUMG00000023716
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; 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

Genomic context

See NME8 in Genome Data Viewer
Location:
7p14.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (37848597..37900401)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (37887930..37940003)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 141 Neighboring gene G protein-coupled receptor 141B, pseudogene Neighboring gene secreted frizzled related protein 4 Neighboring gene ependymin related 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 6
MedGen: C1970506 OMIM: 610852 GeneReviews: Primary Ciliary Dyskinesia
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NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: EPDR1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular response to reactive oxygen species IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
outer dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 
sperm cytoplasmic droplet IEA
Inferred from Electronic Annotation
more info
 
sperm principal piece IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thioredoxin domain-containing protein 3
Names
epididymis secretory protein Li 99
sperm-specific thioredoxin 2
spermatid-specific thioredoxin-2
thioredoxin domain containing 3 (spermatozoa)

NCBI Reference Sequences (RefSeq)

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

  1. NG_015893.1 RefSeqGene

    Range
    5001..56805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016616.4NP_057700.3  thioredoxin domain-containing protein 3

    See identical proteins and their annotated locations for NP_057700.3

    Status: REVIEWED

    Source sequence(s)
    AF202051, AF305596, BC036816
    Consensus CDS
    CCDS5452.1
    UniProtKB/Swiss-Prot
    Q8N427
    Related
    ENSP00000199447.4, OTTHUMP00000128304, ENST00000199447.8, OTTHUMT00000219946
    Conserved Domains (3) summary
    smart00562
    Location:451586
    NDK; Enzymes that catalyze nonsubstrate specific conversions of nucleoside diphosphates to nucleoside triphosphates
    cd02948
    Location:11113
    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:451582
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    37848597..37900401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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