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Aliases for NIPSNAP2 Gene

Aliases for NIPSNAP2 Gene

  • Nipsnap Homolog 2 2 3
  • Glioblastoma Amplified Sequence 2 3 5
  • GBAS 3 4 5
  • 4-Nitrophenylphosphatase Domain And Non-Neuronal SNAP25-Like 2 3
  • Glioblastoma-Amplified Sequence 4
  • Protein NipSnap Homolog 2 3
  • NipSnap2 4

External Ids for NIPSNAP2 Gene

Previous HGNC Symbols for NIPSNAP2 Gene

  • GBAS

Summaries for NIPSNAP2 Gene

Entrez Gene Summary for NIPSNAP2 Gene

  • This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for NIPSNAP2 Gene

NIPSNAP2 (Nipsnap Homolog 2) is a Protein Coding gene. An important paralog of this gene is NIPSNAP1.

Gene Wiki entry for NIPSNAP2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPSNAP2 Gene

Genomics for NIPSNAP2 Gene

Regulatory Elements for NIPSNAP2 Gene

Enhancers for NIPSNAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G056004 1.3 Ensembl ENCODE 22.2 +55.9 55914 6.8 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NIPSNAP2 SUMF2 PHKG1 MRPS17 PSPHP1 ZNF713 NUPR2 PIR39528 PSPH
GH07G055999 1.2 Ensembl ENCODE 23.6 +48.4 48412 1.4 ELF3 PKNOX1 FOXA2 ATF1 MLX RARA ZNF121 MIXL1 THAP11 HMG20B NIPSNAP2 CHCHD2 PHKG1 MRPS17 SUMF2 PIR39528 PSPH
GH07G056059 1.1 ENCODE 24.8 +110.9 110891 6.2 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS DEK NIPSNAP2 SUMF2 CHCHD2 PHKG1 PSPHP1 MRPS17 PSPH SNORA15
GH07G056091 0.9 Ensembl ENCODE 26.9 +140.8 140784 2.2 CTCF BHLHE40 ETV1 REST RAD21 NR2F2 KAT2B PBX2 ZNF341 GABPB1 CHCHD2 NIPSNAP2 SUMF2 MRPS17 PSPHP1 PHKG1
GH07G056078 1 Ensembl ENCODE 23.2 +128.1 128113 1.9 SOX13 CTCF FOXA2 SAP130 SIN3A ARID4B MAX THRB ZNF48 RAD21 NIPSNAP2 SUMF2 CHCHD2 PSPHP1 MRPS17 PHKG1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NIPSNAP2 on UCSC Golden Path with GeneCards custom track

Promoters for NIPSNAP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000212735 308 1400 MLX ARID4B SIN3A DMAP1 YY1 SP3 ZHX2 MXD4 NFYC REST

Genomic Location for NIPSNAP2 Gene

Chromosome:
7
Start:
55,951,793 bp from pter
End:
56,000,182 bp from pter
Size:
48,390 bases
Orientation:
Plus strand

Genomic View for NIPSNAP2 Gene

Genes around NIPSNAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPSNAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPSNAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPSNAP2 Gene

Proteins for NIPSNAP2 Gene

  • Protein details for NIPSNAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75323-NIPS2_HUMAN
    Recommended name:
    Protein NipSnap homolog 2
    Protein Accession:
    O75323
    Secondary Accessions:
    • C9IYJ3
    • O43801
    • Q53X96

    Protein attributes for NIPSNAP2 Gene

    Size:
    286 amino acids
    Molecular mass:
    33743 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA04633.1; Type=Frameshift; Positions=8, 11, 17; Evidence={ECO:0000305};

    Alternative splice isoforms for NIPSNAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPSNAP2 Gene

Post-translational modifications for NIPSNAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NIPSNAP2 Gene

No data available for DME Specific Peptides for NIPSNAP2 Gene

Domains & Families for NIPSNAP2 Gene

Protein Domains for NIPSNAP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPSNAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75323

UniProtKB/Swiss-Prot:

NIPS2_HUMAN :
  • Belongs to the NipSnap family.
Family:
  • Belongs to the NipSnap family.
genes like me logo Genes that share domains with NIPSNAP2: view

No data available for Gene Families for NIPSNAP2 Gene

Function for NIPSNAP2 Gene

Molecular function for NIPSNAP2 Gene

GENATLAS Biochemistry:
putative peroxisomal protein,involved in vesicular transport,member 2 of a new gene-family,homolog to a hypothetical protein (P34492) from C elegans

Gene Ontology (GO) - Molecular Function for NIPSNAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20562859
genes like me logo Genes that share ontologies with NIPSNAP2: view

Phenotypes for NIPSNAP2 Gene

GenomeRNAi human phenotypes for NIPSNAP2:
genes like me logo Genes that share phenotypes with NIPSNAP2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIPSNAP2 Gene

Localization for NIPSNAP2 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 NIPSNAP2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for NIPSNAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005887 integral component of plasma membrane TAS 9615231
GO:0016020 membrane TAS 9615231
genes like me logo Genes that share ontologies with NIPSNAP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NIPSNAP2 Gene

Pathways & Interactions for NIPSNAP2 Gene

SuperPathways for NIPSNAP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NIPSNAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0006754 ATP biosynthetic process IMP 20888800
GO:1901843 positive regulation of high voltage-gated calcium channel activity ISS --
GO:2000984 negative regulation of ATP citrate synthase activity IMP 20888800
genes like me logo Genes that share ontologies with NIPSNAP2: view

No data available for Pathways by source and SIGNOR curated interactions for NIPSNAP2 Gene

Drugs & Compounds for NIPSNAP2 Gene

No Compound Related Data Available

Transcripts for NIPSNAP2 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIPSNAP2 Gene

No ASD Table

Relevant External Links for NIPSNAP2 Gene

GeneLoc Exon Structure for
NIPSNAP2
ECgene alternative splicing isoforms for
NIPSNAP2

Expression for NIPSNAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of NIPSNAP2 Gene:

NIPSNAP2

mRNA Expression by UniProt/SwissProt for NIPSNAP2 Gene:

O75323-NIPS2_HUMAN
Tissue specificity: Widely expressed. Most abundant in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NIPSNAP2 Gene

  • Intestine(4.3)
  • Lung(4.3)
  • Nervous system(4.2)
  • Muscle(2.5)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with NIPSNAP2: view

Primer Products

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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPSNAP2 Gene

Orthologs for NIPSNAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NIPSNAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBAS 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia GBAS 34 35
  • 91.84 (n)
cow
(Bos Taurus)
Mammalia GBAS 34 35
  • 90.33 (n)
oppossum
(Monodelphis domestica)
Mammalia GBAS 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gbas 34
  • 86.71 (n)
mouse
(Mus musculus)
Mammalia Gbas 34 35
  • 85.88 (n)
Nipsnap2 16
platypus
(Ornithorhynchus anatinus)
Mammalia GBAS 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBAS 34 35
  • 78.76 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gbas 34
  • 74.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2666 34
zebrafish
(Danio rerio)
Actinopterygii gbas 34 35
  • 70.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003200 34
  • 53.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nipsnap 34 35
  • 52.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6771 35
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2429 34
Species where no ortholog for NIPSNAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 NIPSNAP2 Gene

ENSEMBL:
Gene Tree for NIPSNAP2 (if available)
TreeFam:
Gene Tree for NIPSNAP2 (if available)

Paralogs for NIPSNAP2 Gene

Paralogs for NIPSNAP2 Gene

Pseudogenes.org Pseudogenes for NIPSNAP2 Gene

genes like me logo Genes that share paralogs with NIPSNAP2: view

Variants for NIPSNAP2 Gene

Sequence variations from dbSNP and Humsavar for NIPSNAP2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000064561 -- 55,979,511(+) AATCT(A/G)TCACC intron-variant
rs1000083167 -- 55,997,225(+) AGAAT(C/T)TCCCC intron-variant
rs1000116580 -- 55,979,881(+) TCTCC(A/C)TTCAG intron-variant
rs1000144739 -- 55,999,561(+) ACAAG(G/T)GTACC utr-variant-3-prime
rs1000175011 -- 55,963,324(+) GATGC(C/G)CTCCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NIPSNAP2 Gene

Variant ID Type Subtype PubMed ID
dgv1201e199 CNV deletion 23128226
dgv6362n100 CNV gain 25217958
esv1007870 OTHER inversion 20482838
esv2734447 CNV deletion 23290073
esv2734448 CNV deletion 23290073
esv2761334 CNV gain 21179565
esv28230 CNV gain+loss 19812545
esv3613248 CNV gain 21293372
esv3613258 CNV gain 21293372
nsv1017793 CNV gain 25217958
nsv1019400 CNV gain 25217958
nsv1145132 CNV deletion 24896259

Variation tolerance for NIPSNAP2 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIPSNAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPSNAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPSNAP2 Gene

Disorders for NIPSNAP2 Gene

Relevant External Links for NIPSNAP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIPSNAP2

No disorders were found for NIPSNAP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NIPSNAP2 Gene

Publications for NIPSNAP2 Gene

  1. GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR. (PMID: 9615231) Wang X.-Y. … James C.D. (Genomics 1998) 2 3 4 22 64
  2. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. (PMID: 9661659) Seroussi E. … Dumanski J.P. (Gene 1998) 2 3 4 22 64
  3. Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. (PMID: 20888800) Martherus R.S. … Ayoubi T.A. (Biochem. Biophys. Res. Commun. 2010) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NIPSNAP2 Gene

Sources for NIPSNAP2 Gene

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