NIPSNAP2 is a 286 amino acid protein that is abundantly expressed in heart and skeletal muscle. Belonging to the NIPSNAP family, NIPSNAP2 may be involved in vesicular transport. NIPSNAP2 contains a signal peptide, a transmembrane domain and two tyrosine phosphorylation sites. NIPSNAP2 is encoded by a gene mapping to human chromosome 7p11.2. Chromosomal region 7p12 is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor. Human chromosome 7 houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
Tissue Specificity:
Widely expressed. Most abundant in heart and skeletal muscle.
Similarity:
Belongs to the NipSnap family.
SWISS:
O75323
Gene ID:
2631
Database links:
Entrez Gene: 2631 Human
Entrez Gene: 14467 Mouse
Entrez Gene: 498174 Rat
Omim: 603004 Human
SwissProt: O75323 Human
SwissProt: O55126 Mouse
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