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Aliases for NIPAL2 Gene

Aliases for NIPAL2 Gene

  • NIPA Like Domain Containing 2 2 3 5
  • NPAL2 3 4
  • NIPA-Like Protein 2 3

External Ids for NIPAL2 Gene

Previous HGNC Symbols for NIPAL2 Gene

  • NPAL2

Previous GeneCards Identifiers for NIPAL2 Gene

  • GC08M099278
  • GC08M094407
  • GC08M099202

Summaries for NIPAL2 Gene

GeneCards Summary for NIPAL2 Gene

NIPAL2 (NIPA Like Domain Containing 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.

Additional gene information for NIPAL2 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 NIPAL2 Gene

Genomics for NIPAL2 Gene

GeneHancer (GH) Regulatory Elements for NIPAL2 Gene

Promoters and enhancers for NIPAL2 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
GH08I098291 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 594.1 +2.0 2014 3.8 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 GLIS2 ZNF143 SP3 NIPAL2 GC08M098234 LOC105375659
GH08I098298 Enhancer 0.4 Ensembl 550.8 -1.9 -1859 0.2 ZFHX2 ZNF362 EGR2 NIPAL2 LOC105375659 PIR59012
GH08I098299 Enhancer 0.5 ENCODE 22.5 -5.1 -5085 2 ZNF184 IKZF1 CBFA2T3 IKZF2 ZBTB40 NIPAL2 LOC105375659 PIR59012
GH08I098337 Enhancer 0.6 ENCODE dbSUPER 11.2 -42.9 -42889 1.2 FOSL1 FOSL2 FOS NIPAL2 RNU6-914P PIR59012
GH08I098183 Enhancer 0.4 Ensembl ENCODE 14.4 +110.7 110726 2.3 NIPAL2 RNU6-914P LOC105375660 GC08P097993
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NIPAL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NIPAL2 gene promoter:

Genomic Locations for NIPAL2 Gene

Genomic Locations for NIPAL2 Gene
chr8:98,189,826-98,295,442
(GRCh38/hg38)
Size:
105,617 bases
Orientation:
Minus strand
chr8:99,202,061-99,306,621
(GRCh37/hg19)

Genomic View for NIPAL2 Gene

Genes around NIPAL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPAL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPAL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPAL2 Gene

Proteins for NIPAL2 Gene

  • Protein details for NIPAL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H841-NPAL2_HUMAN
    Recommended name:
    NIPA-like protein 2
    Protein Accession:
    Q9H841
    Secondary Accessions:
    • A2RTY8

    Protein attributes for NIPAL2 Gene

    Size:
    368 amino acids
    Molecular mass:
    40785 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NIPAL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPAL2 Gene

Post-translational modifications for NIPAL2 Gene

  • Glycosylation at Asn33 and isoforms=2274

Other Protein References for NIPAL2 Gene

No data available for DME Specific Peptides for NIPAL2 Gene

Domains & Families for NIPAL2 Gene

Gene Families for NIPAL2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NIPAL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPAL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H841

UniProtKB/Swiss-Prot:

NPAL2_HUMAN :
  • Belongs to the NIPA family.
Family:
  • Belongs to the NIPA family.
genes like me logo Genes that share domains with NIPAL2: view

Function for NIPAL2 Gene

Phenotypes From GWAS Catalog for NIPAL2 Gene

Gene Ontology (GO) - Molecular Function for NIPAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with NIPAL2: view

Phenotypes for NIPAL2 Gene

GenomeRNAi human phenotypes for NIPAL2:
genes like me logo Genes that share phenotypes with NIPAL2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIPAL2 Gene

Localization for NIPAL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPAL2 Gene

Membrane; Multi-pass membrane protein.

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 NIPAL2 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for NIPAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPAL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NIPAL2 Gene

Pathways & Interactions for NIPAL2 Gene

genes like me logo Genes that share pathways with NIPAL2: view

Pathways by source for NIPAL2 Gene

Interacting Proteins for NIPAL2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339256%0d%0a9606.ENSP00000276282%0d%0a9606.ENSP00000270115%0d%0a
Selected Interacting proteins: ENSP00000339256 for NIPAL2 Gene via STRING

Gene Ontology (GO) - Biological Process for NIPAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015693 magnesium ion transport IBA --
GO:1903830 magnesium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with NIPAL2: view

No data available for SIGNOR curated interactions for NIPAL2 Gene

Drugs & Compounds for NIPAL2 Gene

No Compound Related Data Available

Transcripts for NIPAL2 Gene

Unigene Clusters for NIPAL2 Gene

NIPA-like domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIPAL2 Gene

No ASD Table

Relevant External Links for NIPAL2 Gene

GeneLoc Exon Structure for
NIPAL2
ECgene alternative splicing isoforms for
NIPAL2

Expression for NIPAL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NIPAL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NIPAL2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NIPAL2 Gene



Protein tissue co-expression partners for NIPAL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NIPAL2 Gene:

NIPAL2

SOURCE GeneReport for Unigene cluster for NIPAL2 Gene:

Hs.309489

Evidence on tissue expression from TISSUES for NIPAL2 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with NIPAL2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPAL2 Gene

Orthologs for NIPAL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NIPAL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIPAL2 33 34
  • 99.04 (n)
cow
(Bos Taurus)
Mammalia NIPAL2 33 34
  • 88.05 (n)
dog
(Canis familiaris)
Mammalia NIPAL2 33 34
  • 85.82 (n)
mouse
(Mus musculus)
Mammalia Nipal2 33 16 34
  • 84.31 (n)
rat
(Rattus norvegicus)
Mammalia Nipal2 33
  • 83.38 (n)
oppossum
(Monodelphis domestica)
Mammalia NIPAL2 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL2 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIPAL2 33 34
  • 70.48 (n)
lizard
(Anolis carolinensis)
Reptilia NIPAL2 34
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53705 33
zebrafish
(Danio rerio)
Actinopterygii NIPAL2 (2 of 2) 34
  • 57 (a)
OneToMany
NIPAL2 (1 of 2) 34
  • 49 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.496 33
fruit fly
(Drosophila melanogaster)
Insecta spict 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for NIPAL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for NIPAL2 Gene

ENSEMBL:
Gene Tree for NIPAL2 (if available)
TreeFam:
Gene Tree for NIPAL2 (if available)

Paralogs for NIPAL2 Gene

Paralogs for NIPAL2 Gene

(5) SIMAP similar genes for NIPAL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NIPAL2: view

Variants for NIPAL2 Gene

Sequence variations from dbSNP and Humsavar for NIPAL2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000022314 -- 98,211,773(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000029250 -- 98,276,352(-) C/A intron_variant
rs1000035041 -- 98,230,366(-) T/C intron_variant
rs1000106651 -- 98,230,015(-) G/A intron_variant
rs1000120924 -- 98,222,118(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NIPAL2 Gene

Variant ID Type Subtype PubMed ID
nsv831406 CNV loss 17160897
nsv831405 CNV gain 17160897
nsv6326 CNV deletion 18451855
nsv397166 CNV deletion 16902084
esv3618149 CNV loss 21293372
esv3416797 CNV insertion 20981092
esv2737348 CNV deletion 23290073
esv2669746 CNV deletion 23128226
esv2659931 CNV deletion 23128226
esv2656906 CNV deletion 23128226
esv1594433 CNV deletion 17803354

Variation tolerance for NIPAL2 Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIPAL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPAL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPAL2 Gene

Disorders for NIPAL2 Gene

Additional Disease Information for NIPAL2

No disorders were found for NIPAL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NIPAL2 Gene

Publications for NIPAL2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  2. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. (PMID: 23400010) Del-Aguila JL … Boerwinkle E (The pharmacogenomics journal 2014) 3 58
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  4. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 4 58
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y … Sugano S (Genome research 2004) 3 58

Products for NIPAL2 Gene

Sources for NIPAL2 Gene

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