PTPRF gene

protein tyrosine phosphatase, receptor type F

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

From UniProt:

Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity.

The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.

From NCBI Gene:

  • Breasts and/or nipples, aplasia or hypoplasia of, 2

From UniProt:

Aplasia or hypoplasia of the breasts and/or nipples 2 (BNAH2): A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). [MIM:616001]

Cytogenetic Location: 1p34, which is the short (p) arm of chromosome 1 at position 34

Molecular Location: base pairs 43,522,238 to 43,623,672 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p34, which is the short (p) arm of chromosome 1 at position 34
  • BNAH2
  • LAR