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Aliases for NIPAL2 Gene

Aliases for NIPAL2 Gene

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

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. Diseases associated with NIPAL2 include autosomal recessive congenital ichthyosis. 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. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL3.

No data available for Entrez Gene 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

Regulatory Elements for NIPAL2 Gene

Promoters for NIPAL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NIPAL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NIPAL2 Gene

Chromosome:
8
Start:
98,189,826 bp from pter
End:
98,295,442 bp from pter
Size:
105,617 bases
Orientation:
Minus strand

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

Proteomics data for NIPAL2 Gene at MOPED

Post-translational modifications for NIPAL2 Gene

  • Glycosylation at Asn 33 and Asn 274

Other Protein References for NIPAL2 Gene

No data available for DME Specific Peptides for NIPAL2 Gene

Domains & Families for NIPAL2 Gene

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

No data available for Gene Families for NIPAL2 Gene

Function for NIPAL2 Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
Jensen Localization Image for NIPAL2 Gene COMPARTMENTS Subcellular localization image for NIPAL2 gene
Compartment Confidence
plasma membrane 3
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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

Gene Ontology (GO) - Biological Process for NIPAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015693 magnesium ion 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:

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 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 and MOPED for NIPAL2 Gene



SOURCE GeneReport for Unigene cluster for NIPAL2 Gene Hs.309489

genes like me logo Genes that share expression patterns with NIPAL2: view

Protein tissue co-expression partners for NIPAL2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 89 (a)
OneToOne
NIPAL2 35
  • 99.04 (n)
  • 97.98 (a)
cow
(Bos Taurus)
Mammalia NIPAL2 36
  • 80 (a)
OneToOne
NIPAL2 35
  • 88.05 (n)
  • 87.57 (a)
dog
(Canis familiaris)
Mammalia NIPAL2 35
  • 85.82 (n)
  • 85.63 (a)
NIPAL2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nipal2 36
  • 79 (a)
OneToOne
Nipal2 16
Nipal2 35
  • 84.31 (n)
  • 83.57 (a)
oppossum
(Monodelphis domestica)
Mammalia NIPAL2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL2 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nipal2 35
  • 83.38 (n)
  • 83.57 (a)
chicken
(Gallus gallus)
Aves NIPAL2 35
  • 70.48 (n)
  • 62.6 (a)
NIPAL2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIPAL2 36
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53705 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.496 35
zebrafish
(Danio rerio)
Actinopterygii NIPAL2 (1 of 2) 36
  • 49 (a)
OneToMany
NIPAL2 (2 of 2) 36
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta spict 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for NIPAL2:
  • 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 Sequence Context AA Info Type
rs7016352 -- 98,250,217(+) TATTA(A/G)AATTC intron-variant
rs10090735 -- 98,252,178(+) AATGA(C/T)TACAA intron-variant
rs35037342 -- 98,250,407(+) TAGCA(-/G)GGGGT intron-variant
rs73698764 -- 98,251,449(+) AATGA(C/T)TACAT intron-variant
rs112101263 -- 98,252,071(+) ACTAA(A/G)CTATG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831405 CNV Gain 17160897
nsv891216 CNV Loss 21882294
nsv6326 CNV Loss 18451855
esv2669746 CNV Deletion 23128226
esv2737348 CNV Deletion 23290073
nsv397166 CNV Loss 16902084
esv1594433 CNV Deletion 17803354
esv2659931 CNV Deletion 23128226
esv2656906 CNV Deletion 23128226
nsv831406 CNV Loss 17160897

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)

Relevant External Links for NIPAL2 Gene

HapMap Linkage Disequilibrium report
NIPAL2

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

Disorders for NIPAL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NIPAL2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
autosomal recessive congenital ichthyosis
  • congenital ichthyosiform erythroderma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NIPAL2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIPAL2
genes like me logo Genes that share disorders with NIPAL2: view

No data available for 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. (Nat. Genet. 2004) 2 3 4 67
  2. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. (PMID: 23400010) Del-Aguila J.L. … Boerwinkle E. (Pharmacogenomics J. 2013) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. (PMID: 15317751) Lefevre C. … Fischer J. (Hum. Mol. Genet. 2004) 3
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3

Products for NIPAL2 Gene

Sources for NIPAL2 Gene

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