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. [prov... See more...

Aliases for NIPSNAP2 Gene

Aliases for NIPSNAP2 Gene

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

External Ids for NIPSNAP2 Gene

Previous HGNC Symbols for NIPSNAP2 Gene

  • GBAS

Previous GeneCards Identifiers for NIPSNAP2 Gene

  • GC07P055955

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. Diseases associated with NIPSNAP2 include Hydrops Of Gallbladder and Mast Syndrome. An important paralog of this gene is NIPSNAP1.

UniProtKB/Swiss-Prot Summary for NIPSNAP2 Gene

Gene Wiki entry for NIPSNAP2 Gene

Additional gene information for NIPSNAP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIPSNAP2 Gene

Genomics for NIPSNAP2 Gene

GeneHancer (GH) Regulatory Elements for NIPSNAP2 Gene

Promoters and enhancers for NIPSNAP2 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
GH07J055963 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 512.6 +13.5 13549 3.9 CTCF POLR2G PHF8 JUND PHB2 ZFX ZBTB5 POLR2A ZBTB11 ZBTB26 NIPSNAP2 ZNF713 SUMF2 CHCHD2 PSPHP1 piR-41405-073 MRPS17
GH07J055951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 511.1 +0.5 508 2.6 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC USF1 POLR2G SP1 NIPSNAP2 MRPS17 SUMF2 CHCHD2 ZNF713 piR-41405-073 ENSG00000249773
GH07J056059 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 24.8 +111.0 110999 6.4 RXRA ZNF217 CTCF SIN3A NRF1 POLR2G NCOR1 PHF8 JUND FOS SUMF2 NONHSAG047646.2 NIPSNAP2 CHCHD2 PHKG1 PSPHP1 MRPS17 PSPH SNORA15 CCT6A
GH07J056049 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 19.5 +100.2 100203 4.4 EP300 CTCF NRF1 POLR2G SP1 GTF2E2 PHF8 JUND TEAD4 ZFX PSPH CCT6A CHCHD2 SUMF2 NIPSNAP2 PSPHP1 piR-37258 RF00017-6180
GH07J056091 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 26.9 +140.8 140783 2.2 CTCF REST ZNF341 ZBTB17 RAD21 PBX2 NR2F2 GATA3 FOXP2 SMC3 PHKG1 lnc-PHKG1-1 CHCHD2 NIPSNAP2 SUMF2 MRPS17 PSPHP1 NONHSAG047648.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIPSNAP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIPSNAP2

Genomic Locations for NIPSNAP2 Gene

Genomic Locations for NIPSNAP2 Gene
chr7:55,951,793-56,000,182
(GRCh38/hg38)
Size:
48,390 bases
Orientation:
Plus strand
chr7:56,019,486-56,067,875
(GRCh37/hg19)
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:
    • Interacts with VDAC1.
    SequenceCaution:
    • Sequence=CAA04633.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for NIPSNAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NIPSNAP2 Gene

Post-translational modifications for NIPSNAP2 Gene

  • Ubiquitination at Lys47
  • Modification sites at PhosphoSitePlus

Other Protein References for NIPSNAP2 Gene

No data available for DME Specific Peptides for NIPSNAP2 Gene

Domains & Families for NIPSNAP2 Gene

Gene Families for NIPSNAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NIPSNAP2 Gene

Blocks:
  • NIPSNAP
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPSNAP2 Gene

GenScript: Design optimal peptide antigens:
  • Glioblastoma-amplified sequence (NIPS2_HUMAN)

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

Function for NIPSNAP2 Gene

Molecular function for NIPSNAP2 Gene

UniProtKB/Swiss-Prot Function:
May act as a positive regulator of L-type calcium channels.
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

Phenotypes From GWAS Catalog for NIPSNAP2 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPSNAP2

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 UniProtKB/Swiss-Prot for NIPSNAP2 Gene

Cytoplasm. Mitochondrion outer membrane.

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 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NIPSNAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,ISS --
GO:0005741 mitochondrial outer membrane IDA,IEA 26387735
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NIPSNAP2: view

Pathways & Interactions for NIPSNAP2 Gene

PathCards logo

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:0007005 mitochondrion organization IMP 20888800
GO:1901843 positive regulation of high voltage-gated calcium channel activity ISS --
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

mRNA/cDNA for NIPSNAP2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPSNAP2

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

Expression for NIPSNAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GBAS 31 30
  • 91.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GBAS 31 30
  • 90.33 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBAS 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gbas 30
  • 86.71 (n)
mouse
(Mus musculus)
Mammalia Gbas 31 30
  • 85.88 (n)
OneToOne
Nipsnap2 17
platypus
(Ornithorhynchus anatinus)
Mammalia GBAS 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBAS 31 30
  • 78.76 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gbas 30
  • 74.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2666 30
zebrafish
(Danio rerio)
Actinopterygii gbas 31 30
  • 70.92 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003200 30
  • 53.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nipsnap 31 30
  • 52.42 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6771 31
  • 55 (a)
OneToMany
Cin.2429 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2429 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for NIPSNAP2: view image

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

Additional dbSNP identifiers (rs#s) for NIPSNAP2 Gene

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)

Additional Variant Information for NIPSNAP2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIPSNAP2 Gene

Disorders for NIPSNAP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NIPSNAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hydrops of gallbladder
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
gallbladder adenoma
biliary tract benign neoplasm
  • extrahepatic bile duct neoplasm
acalculous cholecystitis
  • acute acalculous cholecystitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NIPSNAP2

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

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

Publications for NIPSNAP2 Gene

  1. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. (PMID: 9661659) Seroussi E … Dumanski JP (Gene 1998) 2 3 4 23 54
  2. GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR. (PMID: 9615231) Wang XY … James CD (Genomics 1998) 2 3 4 23 54
  3. SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. (PMID: 26387735) Shanmughapriya S … Madesh M (Molecular cell 2015) 3 4 54
  4. Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. (PMID: 20888800) Martherus RS … Ayoubi TA (Biochemical and biophysical research communications 2010) 2 3 54
  5. 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

Products for NIPSNAP2 Gene

Sources for NIPSNAP2 Gene