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Aliases for NXNL2 Gene

Aliases for NXNL2 Gene

  • Nucleoredoxin Like 2 2 3 5
  • Rod-Derived Cone Viability Factor 2 2 3 4
  • C9orf121 3 4
  • RDCVF2 3 4
  • Chromosome 9 Open Reading Frame 121 2
  • Nucleoredoxin-Like Protein 2 3
  • RdCVF2L 3

External Ids for NXNL2 Gene

Previous HGNC Symbols for NXNL2 Gene

  • C9orf121

Previous GeneCards Identifiers for NXNL2 Gene

  • GC09P090340
  • GC09P091150
  • GC09P060978

Summaries for NXNL2 Gene

GeneCards Summary for NXNL2 Gene

NXNL2 (Nucleoredoxin Like 2) is a Protein Coding gene. Diseases associated with NXNL2 include Retinitis Pigmentosa. An important paralog of this gene is NXNL1.

UniProtKB/Swiss-Prot for NXNL2 Gene

  • May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons.

Additional gene information for NXNL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NXNL2 Gene

Genomics for NXNL2 Gene

GeneHancer (GH) Regulatory Elements for NXNL2 Gene

Promoters and enhancers for NXNL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I088528 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 559.4 -1.4 -1415 10.1 PKNOX1 CLOCK NEUROD1 SIN3A ZBTB7B ETS1 GLIS2 ELK1 FOS SP3 NXNL2 LOC105376134 SPIN1 RPL21P85
GH09I088475 Enhancer 1 Ensembl ENCODE 11.5 -57.8 -57783 3.2 PKNOX1 BMI1 BATF KLF5 IRF4 RFX5 ATF7 FOS IKZF2 RUNX3 SPIN1 NXNL2 PIR61508 RPL21P85
GH09I087725 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.2 -808.2 -808225 3.3 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SP3 NFYC CTSL NXNL2 LOC649166 GC09P087714
GH09I087710 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -821.5 -821463 7.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 E2F8 FOS GC09P087714 CTSL LOC649166 NXNL2 DAPK1 GC09P087601
GH09I088425 Enhancer 0.7 Ensembl ENCODE 10.8 -109.2 -109173 0.6 TEAD1 CEBPA CEBPB ZNF384 SMAD4 SPIN1 NXNL2 HNRNPA1P14 PIR61508
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NXNL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NXNL2 gene promoter:

Genomic Locations for NXNL2 Gene

Genomic Locations for NXNL2 Gene
chr9:88,535,073-88,584,466
(GRCh38/hg38)
Size:
49,394 bases
Orientation:
Plus strand
chr9:91,150,016-91,199,189
(GRCh37/hg19)

Genomic View for NXNL2 Gene

Genes around NXNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NXNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NXNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NXNL2 Gene

Proteins for NXNL2 Gene

  • Protein details for NXNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VZ03-NXNL2_HUMAN
    Recommended name:
    Nucleoredoxin-like protein 2
    Protein Accession:
    Q5VZ03
    Secondary Accessions:
    • B1AMD0
    • Q8TBG6

    Protein attributes for NXNL2 Gene

    Size:
    156 amino acids
    Molecular mass:
    17614 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NXNL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NXNL2 Gene

Post-translational modifications for NXNL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NXNL2 Gene

No data available for DME Specific Peptides for NXNL2 Gene

Domains & Families for NXNL2 Gene

Gene Families for NXNL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NXNL2 Gene

Suggested Antigen Peptide Sequences for NXNL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VZ03

UniProtKB/Swiss-Prot:

NXNL2_HUMAN :
  • Belongs to the nucleoredoxin family.
Family:
  • Belongs to the nucleoredoxin family.
genes like me logo Genes that share domains with NXNL2: view

Function for NXNL2 Gene

Molecular function for NXNL2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons.

Phenotypes From GWAS Catalog for NXNL2 Gene

Gene Ontology (GO) - Molecular Function for NXNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004791 thioredoxin-disulfide reductase activity IBA --
genes like me logo Genes that share ontologies with NXNL2: view
genes like me logo Genes that share phenotypes with NXNL2: view

Animal Models for NXNL2 Gene

MGI Knock Outs for NXNL2:

Animal Model Products

miRNA for NXNL2 Gene

miRTarBase miRNAs that target NXNL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NXNL2 Gene

Localization for NXNL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NXNL2 gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NXNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with NXNL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NXNL2 Gene

Pathways & Interactions for NXNL2 Gene

SuperPathways for NXNL2 Gene

No Data Available

Interacting Proteins for NXNL2 Gene

Gene Ontology (GO) - Biological Process for NXNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007600 sensory perception IEA --
GO:0007601 visual perception IEA --
GO:0007608 sensory perception of smell IEA --
GO:0045494 photoreceptor cell maintenance IEA --
GO:0098869 cellular oxidant detoxification IEA --
genes like me logo Genes that share ontologies with NXNL2: view

No data available for Pathways by source and SIGNOR curated interactions for NXNL2 Gene

Drugs & Compounds for NXNL2 Gene

No Compound Related Data Available

Transcripts for NXNL2 Gene

mRNA/cDNA for NXNL2 Gene

(5) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NXNL2 Gene

Nucleoredoxin-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NXNL2 Gene

No ASD Table

Relevant External Links for NXNL2 Gene

GeneLoc Exon Structure for
NXNL2
ECgene alternative splicing isoforms for
NXNL2

Expression for NXNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NXNL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NXNL2 Gene

This gene is overexpressed in Fallopian Tube (x6.4) and Cervix - Endocervix (x5.7).

Protein differential expression in normal tissues from HIPED for NXNL2 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NXNL2 Gene



Protein tissue co-expression partners for NXNL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NXNL2 Gene:

NXNL2

SOURCE GeneReport for Unigene cluster for NXNL2 Gene:

Hs.734507

Evidence on tissue expression from TISSUES for NXNL2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with NXNL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NXNL2 Gene

Orthologs for NXNL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NXNL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NXNL2 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia NXNL2 33 34
  • 87.74 (n)
mouse
(Mus musculus)
Mammalia Nxnl2 33 16 34
  • 85.16 (n)
rat
(Rattus norvegicus)
Mammalia Nxnl2 33
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia NXNL2 34
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NXNL2 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 19 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NXNL2 33 34
  • 73.76 (n)
lizard
(Anolis carolinensis)
Reptilia NXNL2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486090 33
  • 62.34 (n)
zebrafish
(Danio rerio)
Actinopterygii nxnl2 33 34
  • 70.75 (n)
Dr.14023 33
worm
(Caenorhabditis elegans)
Secernentea C32D5.8 33 34
  • 53.03 (n)
C35B1.5 34
  • 36 (a)
ManyToMany
R05H5.3 34
  • 36 (a)
ManyToMany
T28A11.13 34
  • 36 (a)
ManyToMany
T20D4.7 34
  • 35 (a)
ManyToMany
trx-5 34
  • 35 (a)
ManyToMany
Y52E8A.3 34
  • 34 (a)
ManyToMany
F29B9.5 34
  • 30 (a)
ManyToMany
trx-3 34
  • 25 (a)
ManyToMany
C30H6.8 34
  • 21 (a)
ManyToMany
T05F1.11 34
  • 7 (a)
ManyToMany
F17B5.1 34
  • 6 (a)
ManyToMany
Species where no ortholog for NXNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NXNL2 Gene

ENSEMBL:
Gene Tree for NXNL2 (if available)
TreeFam:
Gene Tree for NXNL2 (if available)

Paralogs for NXNL2 Gene

Paralogs for NXNL2 Gene

(2) SIMAP similar genes for NXNL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NXNL2: view

Variants for NXNL2 Gene

Sequence variations from dbSNP and Humsavar for NXNL2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000089284 -- 88,558,409(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000093247 -- 88,577,654(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000141993 -- 88,545,513(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000223509 -- 88,579,546(+) C/G/T genic_downstream_transcript_variant, intron_variant
rs1000289842 -- 88,573,707(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NXNL2 Gene

Variant ID Type Subtype PubMed ID
esv24600 CNV gain 19812545
esv2738719 CNV deletion 23290073
esv2738720 CNV deletion 23290073
esv3573287 CNV loss 25503493
nsv1075252 CNV deletion 25765185
nsv1133734 CNV deletion 24896259
nsv511421 CNV gain 21212237
nsv614812 CNV gain 21841781
nsv614814 CNV gain 21841781
nsv6605 CNV insertion 18451855

Variation tolerance for NXNL2 Gene

Residual Variation Intolerance Score: 68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NXNL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NXNL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NXNL2 Gene

Disorders for NXNL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NXNL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
- elite association - COSMIC cancer census association via MalaCards
Search NXNL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NXNL2

genes like me logo Genes that share disorders with NXNL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NXNL2 Gene

Publications for NXNL2 Gene

  1. Thioredoxin rod-derived cone viability factor protects against photooxidative retinal damage. (PMID: 25596499) Elachouri G … Léveillard T (Free radical biology & medicine 2015) 2 3 58
  2. Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity. (PMID: 22343139) Jaillard C … Léveillard T (Human molecular genetics 2012) 2 3 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (PMID: 22331829) Chasman DI … Ridker PM (Circulation. Cardiovascular genetics 2012) 44 58

Products for NXNL2 Gene

Sources for NXNL2 Gene

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