Protein NipSnap homolog 2 is a protein that in humans is encoded by the GBAS gene.[5][6][7]

NIPSNAP2
Identifiers
AliasesNIPSNAP2, GBAS, glioblastoma amplified sequence, nipsnap homolog 2
External IDsOMIM: 603004; MGI: 1278343; HomoloGene: 1137; GeneCards: NIPSNAP2; OMA:NIPSNAP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001483
NM_001202469

NM_008095

RefSeq (protein)

NP_001189398
NP_001474

n/a

Location (UCSC)Chr 7: 55.95 – 56 MbChr 5: 129.8 – 129.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosomal region 7p12, which contains GBAS, is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. The predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. The GBAS transcript is expressed most abundantly in heart and skeletal muscle. GBAS protein might be involved in vesicular transport.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146729Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029432Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wang XY, Smith DI, Liu W, James CD (Aug 1998). "GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR". Genomics. 49 (3): 448–51. doi:10.1006/geno.1998.5239. PMID 9615231.
  6. ^ Seroussi E, Pan HQ, Kedra D, Roe BA, Dumanski JP (Jul 1998). "Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family". Gene. 212 (1): 13–20. doi:10.1016/S0378-1119(98)00098-5. PMID 9661659.
  7. ^ a b "Entrez Gene: GBAS glioblastoma amplified sequence".

Further reading

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