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    NXNL2 nucleoredoxin like 2 [ Homo sapiens (human) ]

    Gene ID: 158046, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NXNL2provided by HGNC
    Official Full Name
    nucleoredoxin like 2provided by HGNC
    Primary source
    HGNC:HGNC:30482
    See related
    Ensembl:ENSG00000130045 MIM:615299; AllianceGenome:HGNC:30482
    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
    RDCVF2; RdCVF2L; C9orf121
    Summary
    Predicted to be involved in sensory perception of smell and visual perception. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See NXNL2 in Genome Data Viewer
    Location:
    9q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (88535178..88584510)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100689280..100738616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (91150093..91190708)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91110399-91110940 Neighboring gene ribosomal protein L21 pseudogene 85 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91134584-91135288 Neighboring gene uncharacterized LOC105376134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91149879-91150713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91150714-91151547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:91204313-91204818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:91240150-91240802 Neighboring gene long intergenic non-protein coding RNA 2843 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:91266744-91267943 Neighboring gene uncharacterized LOC105376135 Neighboring gene microRNA 4289

    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. NXNL2 Promotes Colon Cancer Proliferation and Metastasis by Regulating AKT Pathway. Li W, et al. Appl Biochem Biotechnol, 2023 Dec. PMID 37084033
    2. Thioredoxin rod-derived cone viability factor protects against photooxidative retinal damage. Elachouri G, et al. Free Radic Biol Med, 2015 Apr. PMID 25596499
    3. Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity. Jaillard C, et al. Hum Mol Genet, 2012 May 15. PMID 22343139, Free PMC Article
    4. Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity. Lambard S, et al. PLoS One, 2010 Oct 7. PMID 20949100, Free PMC Article
    5. Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential. Chalmel F, et al. BMC Mol Biol, 2007 Aug 31. PMID 17764561, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NXNL2 Promotes Colon Cancer Proliferation and Metastasis by Regulating AKT Pathway.
      Title: NXNL2 Promotes Colon Cancer Proliferation and Metastasis by Regulating AKT Pathway.
    2. regulation of the Nucleoredoxin-like genes involves a CRX responsive element that can act as both as a positive regulator of promoter activity and as a modulator of cell-type specificity
      Title: Expression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of nucleoredoxin-like 2 (NXNL2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of smell IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    nucleoredoxin-like protein 2
    Names
    rod-derived cone viability factor 2
    NP_001155097.1
    NP_660326.2
    XP_005251784.1
    XP_011516578.1
    XP_054189057.1
    XP_054189058.1
    XP_054189059.1
    XP_054218027.1
    XP_054218028.1
    XP_054218029.1

    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_001161625.2 → NP_001155097.1  nucleoredoxin-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001155097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL162729
      Consensus CDS
      CCDS55325.1
      UniProtKB/Swiss-Prot
      B1AMD0, Q5VZ03, Q8TBG6
      Related
      ENSP00000365014.3, ENST00000375854.8
      Conserved Domains (1) summary
      cd02964
      Location:10 → 144
      TryX_like_family; Tryparedoxin (TryX)-like family; composed of TryX and related proteins including nucleoredoxin (NRX), rod-derived cone viability factor (RdCVF) and the nematode homolog described as a 16-kD class of TRX. Most members of this family, except RdCVF, are ...

    2. NM_145283.3 → NP_660326.2  nucleoredoxin-like protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL162729, AL592486, BC022521
      Consensus CDS
      CCDS6679.1
      UniProtKB/Swiss-Prot
      Q5VZ03
      Related
      ENSP00000365015.3, ENST00000375855.3
      Conserved Domains (1) summary
      cl00388
      Location:10 → 104
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      88535178..88584510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518276.3 → XP_011516578.1  nucleoredoxin-like protein 2 isoform X1

      Conserved Domains (1) summary
      cl00388
      Location:10 → 103
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    2. XM_005251727.4 → XP_005251784.1  nucleoredoxin-like protein 2 isoform X2

      Conserved Domains (1) summary
      cl00388
      Location:10 → 101
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791787.1 Reference GRCh38.p14 PATCHES

      Range
      15723..65055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333083.1 → XP_054189058.1  nucleoredoxin-like protein 2 isoform X1

    2. XM_054333084.1 → XP_054189059.1  nucleoredoxin-like protein 2 isoform X2

    3. XM_054333082.1 → XP_054189057.1  nucleoredoxin-like protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      100689280..100738616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362053.1 → XP_054218028.1  nucleoredoxin-like protein 2 isoform X1

    2. XM_054362054.1 → XP_054218029.1  nucleoredoxin-like protein 2 isoform X2

    3. XM_054362052.1 → XP_054218027.1  nucleoredoxin-like protein 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VZ03.1 GenPept UniProtKB/Swiss-Prot:Q5VZ03

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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