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Aliases for NPIPA2 Gene

Aliases for NPIPA2 Gene

  • Nuclear Pore Complex Interacting Protein Family Member A2 2 3 5
  • Nuclear Pore Complex Interacting Protein Family, Member A2 2
  • Nuclear Pore Complex-Interacting Protein Family Member A2 3
  • NPIP 3

External Ids for NPIPA2 Gene

Previous GeneCards Identifiers for NPIPA2 Gene

  • GC16P014858
  • GC16P014870
  • GC16P014747
  • GC16P014748
  • GC16P014757
  • GC16P014763
  • GC16P014769

Summaries for NPIPA2 Gene

GeneCards Summary for NPIPA2 Gene

NPIPA2 (Nuclear Pore Complex Interacting Protein Family Member A2) is a Protein Coding gene. An important paralog of this gene is NPIPA3.

Additional gene information for NPIPA2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPIPA2 Gene

Genomics for NPIPA2 Gene

GeneHancer (GH) Regulatory Elements for NPIPA2 Gene

Promoters and enhancers for NPIPA2 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
GH16I014746 Enhancer 0.2 Ensembl 550.8 +0.6 606 0.4 LOC105376747 NPIPA2 LOC105376749
GH16I014973 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.2 +229.7 229726 2.8 PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PDXDC1 NPIPA2 ENSG00000183458 NPIPA3 NPIPA1 PARN LOC100505915 NPIPA5 ENSG00000261819 BFAR
GH16I014337 Enhancer 1.3 Ensembl ENCODE dbSUPER 50.9 -407.7 -407731 1 FOXA2 MLX ZFP64 ARID4B YBX1 DMAP1 ZNF48 YY1 RXRA YY2 ENSG00000183458 PARN NPIPA2 LOC100505915 NPIPA3 NPIPA1 NPIPP1 ERCC4 ENSG00000261819 PKD1P6
GH16I014283 Enhancer 1.3 Ensembl ENCODE 50.5 -460.2 -460191 3.7 MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 ZNF610 GC16P014288 TRT-CGT2-1 ENSG00000183458 NPIPA3 NPIPP1 NPIPA1 LOC100505915 NPIPA2 PARN PKD1P6
GH16I015495 Enhancer 0.9 dbSUPER 28.9 +750.5 750466 1 HDAC1 ARNT ZNF473 YBX1 PLRG1 TCF12 ZNF207 ATF7 ZNF114 ZBTB2 PARN NPIPA2 NPIPA3 ENSG00000183458 FOPNL BFAR ENSG00000277920 NPIPA1 ENSG00000261819 NPIPA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NPIPA2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NPIPA2 Gene

Genomic Locations for NPIPA2 Gene
chr16:14,745,595-14,765,448
(GRCh38/hg38)
Size:
19,854 bases
Orientation:
Plus strand
chr16:14,841,923-14,859,270
(GRCh37/hg19)

Genomic View for NPIPA2 Gene

Genes around NPIPA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPIPA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPIPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPIPA2 Gene

Proteins for NPIPA2 Gene

  • Protein details for NPIPA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    E9PIF3-NPIA2_HUMAN
    Recommended name:
    Nuclear pore complex-interacting protein family member A2
    Protein Accession:
    E9PIF3

    Protein attributes for NPIPA2 Gene

    Size:
    369 amino acids
    Molecular mass:
    42223 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NPIPA2 Gene

Post-translational modifications for NPIPA2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NPIPA2 Gene

Domains & Families for NPIPA2 Gene

Gene Families for NPIPA2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NPIPA2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

E9PIF3

UniProtKB/Swiss-Prot:

NPIA2_HUMAN :
  • Belongs to the NPIP family.
Family:
  • Belongs to the NPIP family.
genes like me logo Genes that share domains with NPIPA2: view

No data available for Suggested Antigen Peptide Sequences for NPIPA2 Gene

Function for NPIPA2 Gene

Phenotypes From GWAS Catalog for NPIPA2 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NPIPA2 Gene

Localization for NPIPA2 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 NPIPA2 gene
Compartment Confidence
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NPIPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with NPIPA2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NPIPA2 Gene

Pathways & Interactions for NPIPA2 Gene

SuperPathways for NPIPA2 Gene

No Data Available

Interacting Proteins for NPIPA2 Gene

Gene Ontology (GO) - Biological Process for NPIPA2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NPIPA2 Gene

Drugs & Compounds for NPIPA2 Gene

No Compound Related Data Available

Transcripts for NPIPA2 Gene

mRNA/cDNA for NPIPA2 Gene

(10) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NPIPA2 Gene

No ASD Table

Relevant External Links for NPIPA2 Gene

GeneLoc Exon Structure for
NPIPA2
ECgene alternative splicing isoforms for
NPIPA2

Expression for NPIPA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPIPA2 Gene

mRNA differential expression in normal tissues according to GTEx for NPIPA2 Gene

This gene is overexpressed in Brain - Cerebellum (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of NPIPA2 Gene:

NPIPA2
genes like me logo Genes that share expression patterns with NPIPA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPIPA2 Gene

Orthologs for NPIPA2 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NPIPA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 84 (a)
OneToMany
Species where no ortholog for NPIPA2 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NPIPA2 Gene

ENSEMBL:
Gene Tree for NPIPA2 (if available)
TreeFam:
Gene Tree for NPIPA2 (if available)

Paralogs for NPIPA2 Gene

Variants for NPIPA2 Gene

Sequence variations from dbSNP and Humsavar for NPIPA2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000920946 -- 14,751,931(+) G/A intron_variant
rs1001315425 -- 14,758,335(+) T/C intron_variant
rs1006824429 -- 14,764,857(+) A/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, stop_lost, terminator_codon_variant
rs1009785910 -- 14,751,837(+) G/A intron_variant
rs1013450834 -- 14,751,973(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NPIPA2 Gene

Variant ID Type Subtype PubMed ID
dgv2738n100 CNV gain 25217958
dgv2740n100 CNV loss 25217958
dgv2741n100 CNV gain+loss 25217958
dgv2742n100 CNV gain 25217958
dgv4916n54 CNV loss 21841781
esv2758632 CNV gain+loss 17122850
esv2760416 CNV gain+loss 21179565
esv2762254 CNV gain+loss 21179565
esv28787 CNV gain+loss 19812545
nsv1141276 CNV duplication 24896259
nsv1141277 CNV duplication 24896259
nsv1143811 CNV deletion 24896259
nsv1144757 CNV deletion 24896259
nsv1153585 CNV duplication 26484159
nsv1160344 CNV deletion 26073780
nsv1160345 CNV duplication 26073780
nsv1740 CNV deletion 18451855
nsv510676 CNV deletion 20534489
nsv511045 OTHER complex 20534489
nsv7277 OTHER inversion 18451855
nsv821150 CNV deletion 20802225
nsv833144 CNV gain 17160897
nsv952927 CNV deletion 24416366
nsv952928 CNV deletion 24416366
nsv978187 CNV duplication 23825009
nsv984262 CNV duplication 23825009

Variation tolerance for NPIPA2 Gene

Gene Damage Index Score: 0.10; 2.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPIPA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPIPA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPIPA2 Gene

Disorders for NPIPA2 Gene

Additional Disease Information for NPIPA2

No disorders were found for NPIPA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NPIPA2 Gene

Publications for NPIPA2 Gene

  1. Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling. (PMID: 18055785) Hornan DM … Webster AR (Investigative ophthalmology & visual science 2007) 3 58
  2. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4 58

Products for NPIPA2 Gene

Sources for NPIPA2 Gene

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