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Aliases for GBAS Gene

Aliases for GBAS Gene

  • Glioblastoma Amplified Sequence 2 3 5
  • NIPSNAP2 3 4
  • 4-Nitrophenylphosphatase Domain And Non-Neuronal SNAP25-Like 2 3
  • Glioblastoma-Amplified Sequence 4
  • Protein NipSnap Homolog 2 3

External Ids for GBAS Gene

Previous GeneCards Identifiers for GBAS Gene

  • GC07P055496
  • GC07P055740
  • GC07P055774
  • GC07P055806
  • GC07P055999
  • GC07P055859
  • GC07P056020

Summaries for GBAS Gene

Entrez Gene Summary for GBAS 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 GBAS Gene

GBAS (Glioblastoma Amplified Sequence) is a Protein Coding gene. Diseases associated with GBAS include Glioblastoma. An important paralog of this gene is NIPSNAP1.

Gene Wiki entry for GBAS Gene

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

Genomics for GBAS Gene

Regulatory Elements for GBAS Gene

Enhancers for GBAS 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
GH07F056091 0.9 Ensembl ENCODE 26.9 +140.7 140744 2.2 CTCF ETV1 BHLHE40 RAD21 KAT2B PBX2 GABPB1 ZNF341 SMC3 FOXP2 CHCHD2 GBAS SUMF2 MRPS17 PSPHP1 PHKG1
GH07F056059 0.7 Ensembl ENCODE 24.8 +110.9 110891 6.2 HDGF ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF143 FOS PAF1 GBAS SUMF2 CHCHD2 PHKG1 PSPHP1 MRPS17 PSPH SNORA15
GH07F055977 0.5 ENCODE 24.3 +26.1 26149 0.9 FEZF1 ZNF843 OSR2 ZNF366 ZNF512 ZNF24 ZNF600 WT1 ZXDB GBAS MRPS17 PIR39528
GH07F055999 0.8 Ensembl ENCODE 23.5 +48.4 48412 1.4 ELF3 PKNOX1 ATF1 MLX RARA ZNF121 MIXL1 THAP11 HMG20B CEBPB GBAS CHCHD2 PHKG1 MRPS17 SUMF2 PIR39528 PSPH
GH07F056078 1.1 Ensembl ENCODE 23.2 +128.1 128113 1.9 SOX13 CTCF SAP130 SIN3A ARID4B THRB ZNF48 RAD21 RARA YY1 GBAS SUMF2 CHCHD2 PSPHP1 MRPS17 PHKG1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GBAS on UCSC Golden Path with GeneCards custom track

Promoters for GBAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000626915 507 1800 MLX ARID4B SIN3A DMAP1 YY1 SP3 NFYC ZHX2 MXD4 REST

Genomic Location for GBAS 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 GBAS Gene

Genes around GBAS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GBAS Gene

Proteins for GBAS Gene

  • Protein details for GBAS 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 GBAS 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 GBAS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBAS Gene

Post-translational modifications for GBAS Gene

  • Ubiquitination at Lys 47
  • Modification sites at PhosphoSitePlus

Other Protein References for GBAS Gene

No data available for DME Specific Peptides for GBAS Gene

Domains & Families for GBAS Gene

Protein Domains for GBAS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GBAS 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 GBAS: view

No data available for Gene Families for GBAS Gene

Function for GBAS Gene

Molecular function for GBAS Gene

GENATLAS Biochemistry:
glioblastoma amplified sequence,31.5kDa,coamplified with EGFR

Gene Ontology (GO) - Molecular Function for GBAS Gene

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

Phenotypes for GBAS Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for GBAS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBAS Gene COMPARTMENTS Subcellular localization image for GBAS gene
Compartment Confidence
mitochondrion 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for GBAS 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 GBAS: view

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

Pathways & Interactions for GBAS Gene

SuperPathways for GBAS Gene

No Data Available

Gene Ontology (GO) - Biological Process for GBAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0006754 ATP biosynthetic process IMP 20888800
GO:2000984 negative regulation of ATP citrate synthase activity IMP 20888800
genes like me logo Genes that share ontologies with GBAS: view

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

Transcripts for GBAS Gene

Unigene Clusters for GBAS Gene

Glioblastoma amplified sequence:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
SP1: - - - -
SP2:
SP3: - - - - - -
SP4: -
SP5: -
SP6: - - -

Relevant External Links for GBAS Gene

GeneLoc Exon Structure for
GBAS
ECgene alternative splicing isoforms for
GBAS

Expression for GBAS Gene

mRNA expression in normal human tissues for GBAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x8.0) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for GBAS Gene

This gene is overexpressed in Heart (9.8).

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



Protein tissue co-expression partners for GBAS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GBAS Gene:

GBAS

SOURCE GeneReport for Unigene cluster for GBAS Gene:

Hs.591069

mRNA Expression by UniProt/SwissProt for GBAS Gene:

O75323-NIPS2_HUMAN
Tissue specificity: Widely expressed. Most abundant in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with GBAS: view

Primer Products

Orthologs for GBAS Gene

This gene was present in the common ancestor of animals.

Orthologs for GBAS 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 16 35
  • 85.88 (n)
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 36 34 35
  • 52.42 (n)
worm
(Caenorhabditis elegans)
Secernentea K02D10.1a 36
  • 38 (a)
K02D10.1b 36
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6771 35
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2429 34
Species where no ortholog for GBAS 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)

Evolution for GBAS Gene

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

Paralogs for GBAS Gene

Paralogs for GBAS Gene

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

Pseudogenes.org Pseudogenes for GBAS Gene

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

Variants for GBAS Gene

Sequence variations from dbSNP and Humsavar for GBAS Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10227515 -- 55,983,421(+) TACTT(C/G)TATTG intron-variant
rs10229177 -- 55,996,378(+) GAAGC(A/G)CCTTT intron-variant
rs10229446 -- 55,996,569(+) AACAC(A/G)CTCCC intron-variant
rs10237524 -- 55,968,331(+) tggag(A/G)tacat intron-variant
rs10237928 -- 55,998,712(+) gccag(G/T)atggt intron-variant

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

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

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

Disorders for GBAS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search GBAS in MalaCards View complete list of genes associated with diseases

Relevant External Links for GBAS

Genetic Association Database (GAD)
GBAS
Human Genome Epidemiology (HuGE) Navigator
GBAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBAS
genes like me logo Genes that share disorders with GBAS: view

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

Publications for GBAS 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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GBAS Gene

Sources for GBAS Gene

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