Gene: PTPRH

Alternate names for this Gene: R-PTP-H|SAP1

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: protein tyrosine phosphatase receptor type H

Type of Gene: protein-coding

Gene: SYT5

Alternate names for this Gene: -

Gene Summary: Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011].

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42|11p

Description of this Gene: synaptotagmin 5

Type of Gene: protein-coding