Gene: PES1

Alternate names for this Gene: NOP7|PES

Gene Summary: This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.2

Description of this Gene: pescadillo ribosomal biogenesis factor 1

Type of Gene: protein-coding

Gene: TCN2

Alternate names for this Gene: D22S676|D22S750|II|TC|TC II|TC-2|TC2|TCII

Gene Summary: This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.2

Description of this Gene: transcobalamin 2

Type of Gene: protein-coding

rs5753231 in PES1;TCN2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.