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NME9 NME/NM23 family member 9 [ Homo sapiens (human) ]

Gene ID: 347736, updated on 5-Mar-2024

Summary

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Official Symbol
NME9provided by HGNC
Official Full Name
NME/NM23 family member 9provided by HGNC
Primary source
HGNC:HGNC:21343
See related
Ensembl:ENSG00000181322 MIM:618584; AllianceGenome:HGNC:21343
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NXL2; TXL2; TXL-2; TXNDC6; NM23-H9
Summary
Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in nucleotide metabolic process. Predicted to be located in dynein axonemal particle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 1.1), brain (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3q22.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138261436..138329851, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141002003..141070404, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137980278..138048693, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene OCT4 hESC enhancer GRCh37_chr3:137879291-137879792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20601 Neighboring gene debranching RNA lariats 1 Neighboring gene armadillo repeat containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20602 Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene muscle RAS oncogene homolog

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Thioredoxin-like protein 2b facilitates colon cancer cell proliferation and inhibits apoptosis via NF-κB pathway. Lu Y, et al. Cancer Lett, 2015 Jul 28. PMID 25555669
  2. The mammalian testis-specific thioredoxin system. Miranda-Vizuete A, et al. Antioxid Redox Signal, 2004 Feb. PMID 14713334
  3. Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran. Lu Y, et al. Antioxid Redox Signal, 2013 Sep 20. PMID 23311631, Free PMC Article
  4. Proteomic analysis in lung tissue of smokers and COPD patients. Lee EJ, et al. Chest, 2009 Feb. PMID 18753468
  5. Characterization of human thioredoxin-like 2. A novel microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme. Sadek CM, et al. J Biol Chem, 2003 Apr 11. PMID 12569107, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. our results indicate that Txl-2b expression stimulates cancer cell proliferation, accelerates the cell cycle and contributes to apoptosis resistance in colon cancer and provides a potential therapeutic target for colon cancer treatment.
    Title: Thioredoxin-like protein 2b facilitates colon cancer cell proliferation and inhibits apoptosis via NF-κB pathway.
  3. Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran.
    Title: Thioredoxin-like protein 2 is overexpressed in colon cancer and promotes cancer cell metastasis by interaction with ran.
  4. MMP-13 and thioredoxin-like 2 in lungs increased in patients with COPD. Thioredoxin-like 2 was primarily seen in the bronchial epithelium
    Title: Proteomic analysis in lung tissue of smokers and COPD patients.
  5. This protein is characterized. It is a microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme
    Title: Characterization of human thioredoxin-like 2. A novel microtubule-binding thioredoxin expressed predominantly in the cilia of lung airway epithelium and spermatid manchette and axoneme.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Clone Names

  • MGC129586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleoside diphosphate kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in CTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in GTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in UTP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in dynein axonemal particle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
thioredoxin domain-containing protein 6
Names
NME gene family member 9
thioredoxin-like protein 2

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.

mRNA and Protein(s)

  1. NM_001349018.2 → NP_001335947.1  thioredoxin domain-containing protein 6 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC022337
    Consensus CDS
    CCDS87142.1
    UniProtKB/Swiss-Prot
    Q7Z4A8, Q86XW9, Q8N1V7
    Related
    ENSP00000335444.3, ENST00000333911.9
    Conserved Domains (2) summary
    cd02948
    Location:11 → 112
    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:159 → 295
    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 ...

  2. NM_001349020.2 → NP_001335949.1  thioredoxin domain-containing protein 6 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:96 → 232
    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 ...
    cl00388
    Location:11 → 73
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  3. NM_001349021.2 → NP_001335950.1  thioredoxin domain-containing protein 6 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337, AC068777
    Consensus CDS
    CCDS87141.1
    Related
    ENSP00000419882.1, ENST00000484930.5
    Conserved Domains (2) summary
    cd04416
    Location:96 → 232
    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 ...
    cl00388
    Location:11 → 73
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  4. NM_001349022.2 → NP_001335951.1  thioredoxin domain-containing protein 6 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:98 → 234
    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 ...
    cl00388
    Location:1 → 67
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  5. NM_001349023.2 → NP_001335952.1  thioredoxin domain-containing protein 6 isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd04416
    Location:69 → 205
    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 ...
    cl00388
    Location:1 → 38
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

  6. NM_001349024.2 → NP_001335953.1  thioredoxin domain-containing protein 6 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd02948
    Location:11 → 89
    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:120 → 256
    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 ...

  7. NM_001349025.2 → NP_001335954.1  thioredoxin domain-containing protein 6 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a. Variants 7 and 8 both encode the same isoform (g).
    Source sequence(s)
    AC022337
    Conserved Domains (2) summary
    cd02948
    Location:11 → 89
    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:120 → 256
    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 ...

  8. NM_178130.4 → NP_835231.1  thioredoxin domain-containing protein 6 isoform b

    See identical proteins and their annotated locations for NP_835231.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence, the 3' UTR and coding sequence, and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, has a shorter and distinct C-terminus, and lacks an alternate internal segment compared to isoform a.
    Source sequence(s)
    AC022337, AC068777, AK094830
    Consensus CDS
    CCDS3099.1
    UniProtKB/Swiss-Prot
    Q86XW9
    Related
    ENSP00000372667.2, ENST00000383180.6
    Conserved Domains (2) summary
    cd04416
    Location:98 → 234
    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 ...
    cl00388
    Location:1 → 67
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138261436..138329851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448078.1 → XP_047304034.1  thioredoxin domain-containing protein 6 isoform X1

RNA

  1. XR_007095675.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141002003..141070404 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346437.1 → XP_054202412.1  thioredoxin domain-containing protein 6 isoform X1

RNA

  1. XR_008486712.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XW9.1 GenPept UniProtKB/Swiss-Prot:Q86XW9

Gene LinkOut

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