Aliases for NEPRO Gene

Aliases for NEPRO Gene

  • Nucleolus And Neural Progenitor Protein 2 3 4 5
  • C3orf17 3 4
  • Chromosome 3 Open Reading Frame 17 2
  • Protein Nepro Homolog 3
  • NET17 3

External Ids for NEPRO Gene

Previous HGNC Symbols for NEPRO Gene

  • C3orf17

Summaries for NEPRO Gene

GeneCards Summary for NEPRO Gene

NEPRO (Nucleolus And Neural Progenitor Protein) is a Protein Coding gene. Diseases associated with NEPRO include Anauxetic Dysplasia 1 and Hyperhidrosis, Gustatory.

UniProtKB/Swiss-Prot Summary for NEPRO Gene

  • May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development.

Additional gene information for NEPRO Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEPRO Gene

Genomics for NEPRO Gene

GeneHancer (GH) Regulatory Elements for NEPRO Gene

Promoters and enhancers for NEPRO 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
GH03J113017 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.4 +0.6 560 3.3 ZBTB40 SIN3A TCF12 MYC USF1 POLR2G SP1 GTF2E2 PHF8 ZFX NEPRO LOC107986114 NONHSAG035751.2 lnc-CD200R1-3 GTPBP8 CD200R1
GH03J113021 Enhancer 0.3 FANTOM5 510.7 -1.4 -1355 0.3 PRDM4 NEPRO lnc-CD200R1-3 CD200R1 LOC107986114 piR-40163-070
GH03J112990 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.1 +29.2 29160 5 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G GTF2E2 PHF8 ZNF639 GTPBP8 CD200R1 ENSG00000272844 NEPRO SPICE1 CFAP44 USF3
GH03J113694 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.5 -677.3 -677317 4.8 HNRNPK ZBTB40 SIN3A NRF1 POLR2G SP1 PHF8 FOS ZIC2 POLR2A USF3 lnc-ATP6V1A-7 NAA50 GTPBP8 NEPRO QTRT2 SIDT1 ATP6V1A RF00994-671
GH03J113742 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -726.6 -726564 8.8 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 MYC POLR2G USF1 SP1 ATP6V1A ENSG00000242659 NAA50 lnc-USF3-3 CFAP44 NEPRO SPICE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEPRO on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEPRO

Genomic Locations for NEPRO Gene

Genomic Locations for NEPRO Gene
chr3:113,002,444-113,019,861
(GRCh38/hg38)
Size:
17,418 bases
Orientation:
Minus strand
chr3:112,721,287-112,738,708
(GRCh37/hg19)
Size:
17,422 bases
Orientation:
Minus strand

Genomic View for NEPRO Gene

Genes around NEPRO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NEPRO Gene

Proteins for NEPRO Gene

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

    Protein Symbol:
    Q6NW34-NEPRO_HUMAN
    Recommended name:
    Nucleolus and neural progenitor protein
    Protein Accession:
    Q6NW34
    Secondary Accessions:
    • D3DN69
    • Q68DM6
    • Q9H7U0
    • Q9UFM4

    Protein attributes for NEPRO Gene

    Size:
    567 amino acids
    Molecular mass:
    64552 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB55998.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NEPRO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEPRO Gene

Post-translational modifications for NEPRO Gene

  • Ubiquitination at Lys257
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NEPRO Gene

Domains & Families for NEPRO Gene

Gene Families for NEPRO Gene

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

Protein Domains for NEPRO Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6NW34

UniProtKB/Swiss-Prot:

NEPRO_HUMAN :
  • Belongs to the nepro family.
Family:
  • Belongs to the nepro family.
genes like me logo Genes that share domains with NEPRO: view

No data available for Suggested Antigen Peptide Sequences for NEPRO Gene

Function for NEPRO Gene

Molecular function for NEPRO Gene

UniProtKB/Swiss-Prot Function:
May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development.

Phenotypes From GWAS Catalog for NEPRO Gene

genes like me logo Genes that share phenotypes with NEPRO: view

Animal Models for NEPRO Gene

MGI Knock Outs for NEPRO:

Clone Products

  • Addgene plasmids for NEPRO

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEPRO Gene

Localization for NEPRO Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEPRO Gene

Nucleus. Nucleus, nucleolus.

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 NEPRO gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2
extracellular 1
mitochondrion 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005730 nucleolus ISS --
genes like me logo Genes that share ontologies with NEPRO: view

Pathways & Interactions for NEPRO Gene

PathCards logo

SuperPathways for NEPRO Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEPRO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0045665 negative regulation of neuron differentiation ISS --
GO:0045747 positive regulation of Notch signaling pathway ISS,IBA --
genes like me logo Genes that share ontologies with NEPRO: view

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

Drugs & Compounds for NEPRO Gene

No Compound Related Data Available

Transcripts for NEPRO Gene

mRNA/cDNA for NEPRO Gene

9 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NEPRO

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

No ASD Table

Relevant External Links for NEPRO Gene

GeneLoc Exon Structure for
NEPRO

Expression for NEPRO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEPRO

Evidence on tissue expression from TISSUES for NEPRO Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with NEPRO: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEPRO Gene

Orthologs for NEPRO Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEPRO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C3H3orf17 31 30
  • 99.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C1H3orf17 30
  • 86.83 (n)
C3orf17 31
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C33H3orf17 30
  • 86.73 (n)
C3orf17 31
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC027231 31 30
  • 76.26 (n)
OneToOne
Nepro 17
rat
(Rattus norvegicus)
Mammalia RGD1311458 30
  • 75.93 (n)
oppossum
(Monodelphis domestica)
Mammalia C3orf17 31
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C3orf17 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H3orf17 30
  • 53.93 (n)
C3orf17 31
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C3orf17 31
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c3orf17 30
  • 50.8 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-22a1.3 30
  • 47.03 (n)
C9H3orf17 31
  • 30 (a)
OneToOne
Species where no ortholog for NEPRO 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)
  • worm (Caenorhabditis elegans)

Evolution for NEPRO Gene

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

Paralogs for NEPRO Gene

No data available for Paralogs for NEPRO Gene

Variants for NEPRO Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEPRO Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
774846 Benign: not provided 113,013,348(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs2291465 - p.Glu101Lys
rs2306857 - p.Phe357Ile
rs2306858 - p.Pro352Ser
rs3732813 - p.Thr476Ala

Additional dbSNP identifiers (rs#s) for NEPRO Gene

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

Variant ID Type Subtype PubMed ID
esv3893763 CNV loss 25118596
nsv591293 CNV loss 21841781

Variation tolerance for NEPRO Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEPRO Gene

Human Gene Mutation Database (HGMD)
NEPRO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEPRO

SNP Genotyping and Copy Number Assay Products

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

Disorders for NEPRO Gene

MalaCards: The human disease database

(2) MalaCards diseases for NEPRO Gene - From: DISEASES

Disorder Aliases PubMed IDs
anauxetic dysplasia 1
  • ad
hyperhidrosis, gustatory
  • hyprg
- elite association - COSMIC cancer census association via MalaCards
Search NEPRO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEPRO

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

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

Publications for NEPRO Gene

  1. An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. (PMID: 31250547) Narayanan DL … Girisha KM (American journal of medical genetics. Part A 2019) 2 3 54
  2. Identification of Nepro, a gene required for the maintenance of neocortex neural progenitor cells downstream of Notch. (PMID: 19906856) Muroyama Y … Saito T (Development (Cambridge, England) 2009) 2 3 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54

Products for NEPRO Gene

Sources for NEPRO Gene