Gene: CEP63

Alternate names for this Gene: SCKL6

Gene Summary: This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: centrosomal protein 63

Type of Gene: protein-coding

Gene: EPHB1

Alternate names for this Gene: ELK|EPHT2|Hek6|NET

Gene Summary: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: EPH receptor B1

Type of Gene: protein-coding

rs9851441 in CEP63;EPHB1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs775009958 in CEP63;EPHB1 gene and Waist-Hip Ratio PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.