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NXNL2 nucleoredoxin like 2 [ Homo sapiens (human) ]

Gene ID: 158046, updated on 5-Mar-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 photoreceptor cell maintenance and sensory perception. Predicted to act upstream of or within sensory perception of smell and visual perception. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
9q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (88535178..88584510)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (100689280..100738616)
105.20220307 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. Thioredoxin rod-derived cone viability factor protects against photooxidative retinal damage. Elachouri G, et al. Free Radic Biol Med, 2015 Apr. PMID 25596499
  2. 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
  3. 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
  4. 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
  5. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article

See all (10) 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)

Genotypes

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_2023_10

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

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