This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicin... See more...

Aliases for NSA2 Gene

Aliases for NSA2 Gene

  • NSA2 Ribosome Biogenesis Factor 2 3 5
  • Hairy Cell Leukemia Protein 1 2 3 4
  • Ribosome Biogenesis Protein NSA2 Homolog 3 4
  • TGF Beta-Inducible Nuclear Protein 1 2 3
  • NSA2, Ribosome Biogenesis Homolog 2 3
  • TINP1 3 4
  • NSA2 Ribosome Biogenesis Homolog (S. Cerevisiae) 2
  • TGF-Beta-Inducible Nuclear Protein 1 4
  • TGF-Beta Inducible Nuclear Protein 3
  • HUSSY-29 3
  • HUSSY29 3
  • CDK105 3
  • HCL-G1 3
  • HCLG1 3

External Ids for NSA2 Gene

Previous GeneCards Identifiers for NSA2 Gene

  • GC05P074099
  • GC05P074062
  • GC05P069268

Summaries for NSA2 Gene

Entrez Gene Summary for NSA2 Gene

  • This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

GeneCards Summary for NSA2 Gene

NSA2 (NSA2 Ribosome Biogenesis Factor) is a Protein Coding gene. Diseases associated with NSA2 include Perineocele and Hairy Cell Leukemia.

UniProtKB/Swiss-Prot Summary for NSA2 Gene

  • Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity).

Gene Wiki entry for NSA2 Gene

Additional gene information for NSA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSA2 Gene

Genomics for NSA2 Gene

GeneHancer (GH) Regulatory Elements for NSA2 Gene

Promoters and enhancers for NSA2 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
GH05J074764 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606.9 +1.3 1256 4.2 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A MYC POLR2G SP1 GTF2E2 NSA2 GFM2 POLK ENSG00000272040 RNU6-658P FAM169A
GH05J074863 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 79.4 +101.8 101805 6.9 FOXK2 ZNF217 POLR2G NCOR1 PHF8 TEAD4 ZFX ZIC2 POLR2A CLOCK FAM169A ENSG00000271714 LOC441086 NSA2 ENSG00000242198 GFM2 RF00017-4723
GH05J074849 Promoter/Enhancer 1.1 Ensembl ENCODE 89.5 +85.7 85662 3.6 POLR2G TCF7 TEAD1 ZNF316 CEBPB MAFF FOS SAP130 MAFK RBM22 NSA2 RNU6-1330P FAM169A LOC441086 ENSG00000271714 RF00998-107
GH05J074761 Enhancer 0.8 ENCODE dbSUPER 95.2 -2.6 -2641 3.3 JUND FOS REST EP300 CTCF FOSL2 CEBPB JUN FOSL1 RFX5 lnc-FAM169A-3 NSA2 RNU6-658P GFM2
GH05J074815 Enhancer 0.7 Ensembl ENCODE 89.5 +51.7 51667 3.4 SRF ETS1 CHD7 POU5F1 NANOG ZNF596 RNF2 CBX8 NSA2 RF00998-107 ENSG00000250071 FAM169A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSA2

Genomic Locations for NSA2 Gene

Genomic Locations for NSA2 Gene
chr5:74,765,429-74,780,113
(GRCh38/hg38)
Size:
14,685 bases
Orientation:
Plus strand
chr5:74,062,817-74,072,737
(GRCh37/hg19)
Size:
9,921 bases
Orientation:
Plus strand

Genomic View for NSA2 Gene

Genes around NSA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSA2 Gene

Proteins for NSA2 Gene

  • Protein details for NSA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95478-NSA2_HUMAN
    Recommended name:
    Ribosome biogenesis protein NSA2 homolog
    Protein Accession:
    O95478

    Protein attributes for NSA2 Gene

    Size:
    260 amino acids
    Molecular mass:
    30065 Da
    Quaternary structure:
    • Component of the pre-66S ribosomal particle.

neXtProt entry for NSA2 Gene

Post-translational modifications for NSA2 Gene

  • Ubiquitination at Lys189 and Lys201
  • Modification sites at PhosphoSitePlus

Other Protein References for NSA2 Gene

No data available for DME Specific Peptides for NSA2 Gene

Domains & Families for NSA2 Gene

Gene Families for NSA2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for NSA2 Gene

Blocks:
  • Ribosomal protein S8E
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSA2 Gene

GenScript: Design optimal peptide antigens:
  • TGF-beta-inducible nuclear protein 1 (NSA2_HUMAN)
  • cDNA, FLJ94393, Homo sapiens TGF beta-inducible nuclear protein 1 (TINP1), mRNA (Q5J7U2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95478

UniProtKB/Swiss-Prot:

NSA2_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS8 family. Ribosome biogenesis protein NSA2 subfamily.
Family:
  • Belongs to the eukaryotic ribosomal protein eS8 family. Ribosome biogenesis protein NSA2 subfamily.
genes like me logo Genes that share domains with NSA2: view

Function for NSA2 Gene

Molecular function for NSA2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity).

Phenotypes From GWAS Catalog for NSA2 Gene

Gene Ontology (GO) - Molecular Function for NSA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with NSA2: view
genes like me logo Genes that share phenotypes with NSA2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSA2 Gene

Localization for NSA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSA2 Gene

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 NSA2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NSA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
GO:0030687 preribosome, large subunit precursor IBA 21873635
genes like me logo Genes that share ontologies with NSA2: view

Pathways & Interactions for NSA2 Gene

PathCards logo

SuperPathways for NSA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0042254 ribosome biogenesis IEA --
genes like me logo Genes that share ontologies with NSA2: view

No data available for Pathways by source and SIGNOR curated interactions for NSA2 Gene

Drugs & Compounds for NSA2 Gene

No Compound Related Data Available

Transcripts for NSA2 Gene

mRNA/cDNA for NSA2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSA2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7
SP1: - -
SP2:
SP3:
SP4: - - - -

Relevant External Links for NSA2 Gene

GeneLoc Exon Structure for
NSA2

Expression for NSA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NSA2 Gene

Protein differential expression in normal tissues from HIPED for NSA2 Gene

This gene is overexpressed in Lung (35.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSA2 Gene



Protein tissue co-expression partners for NSA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSA2

SOURCE GeneReport for Unigene cluster for NSA2 Gene:

Hs.482526

Evidence on tissue expression from TISSUES for NSA2 Gene

  • Muscle(4.5)
  • Spleen(2.4)
  • Heart(2.3)
  • Kidney(2.2)
  • Liver(2.2)
  • Lung(2.2)
  • Intestine(2.1)
  • Nervous system(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with NSA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSA2 Gene

Orthologs for NSA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSA2 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia NSA2 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSA2 31 30
  • 99.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSA2 31 30
  • 93.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSA2 31 30
  • 92.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsa2 30
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia Nsa2 17 31 30
  • 88.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSA2 31
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSA2 31 30
  • 83.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSA2 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsa2 30
  • 82.82 (n)
Str.79 30
zebrafish
(Danio rerio)
Actinopterygii nsa2 31 30
  • 76.41 (n)
OneToOne
wufb34b10 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.360 30
fruit fly
(Drosophila melanogaster)
Insecta Ip259 31 30
  • 66.8 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008001 30
  • 64.99 (n)
worm
(Caenorhabditis elegans)
Secernentea W09C5.1 31
  • 70 (a)
OneToOne
CELE_W09C5.1 30
  • 68.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13619g 30
  • 62.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NSA2 33 31 30
  • 61.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL050W 30
  • 57.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06360 30
  • 65.9 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10191 30
soybean
(Glycine max)
eudicotyledons Gma.7693 30
rice
(Oryza sativa)
Liliopsida Os07g0673100 30
  • 66.54 (n)
Os.10094 30
wheat
(Triticum aestivum)
Liliopsida Ta.14408 30
corn
(Zea mays)
Liliopsida Zm.3343 30
barley
(Hordeum vulgare)
Liliopsida Hv.499 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCP1E11.08 30
  • 63.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00981 30
  • 58.46 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.406 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.406 30
Species where no ortholog for NSA2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NSA2 Gene

ENSEMBL:
Gene Tree for NSA2 (if available)
TreeFam:
Gene Tree for NSA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NSA2: view image

Paralogs for NSA2 Gene

(1) SIMAP similar genes for NSA2 Gene using alignment to 2 proteins:

  • NSA2_HUMAN
  • H0YAI9_HUMAN
genes like me logo Genes that share paralogs with NSA2: view

No data available for Paralogs for NSA2 Gene

Variants for NSA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSA2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs3733793 - p.Arg11Cys

Additional dbSNP identifiers (rs#s) for NSA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NSA2 Gene

Variant ID Type Subtype PubMed ID
nsv598653 CNV loss 21841781
nsv968947 CNV duplication 23825009
nsv968948 CNV duplication 23825009

Variation tolerance for NSA2 Gene

Residual Variation Intolerance Score: 45.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSA2 Gene

Disorders for NSA2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NSA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
perineocele
hairy cell leukemia
  • hcl-v
robinow syndrome, autosomal dominant 1
  • drs1
robinow syndrome
  • robinow dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search NSA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NSA2

genes like me logo Genes that share disorders with NSA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSA2 Gene

Publications for NSA2 Gene

  1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F … Valle G (Yeast (Chichester, England) 2001) 2 3 4 54
  2. Molecular analysis of the human chromosome 5q13.3 region in patients with hairy cell leukemia and identification of tumor suppressor gene candidates. (PMID: 10486207) Wu X … Einhorn S (Genomics 1999) 2 3 4 54
  3. Nop-7-associated 2 (NSA2) is required for ribosome biogenesis and protein synthesis. (PMID: 30243719) Xing J … Zhao H (Biochemical and biophysical research communications 2018) 2 3 54
  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 54
  5. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 54

Products for NSA2 Gene

Sources for NSA2 Gene