Gene: CRELD1

Alternate names for this Gene: AVSD2|CIRRIN

Gene Summary: This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: cysteine rich with EGF like domains 1

Type of Gene: protein-coding

Gene: IL17RC

Alternate names for this Gene: CANDF9|IL17-RL|IL17RL

Gene Summary: This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3|3p25.3-p24.1

Description of this Gene: interleukin 17 receptor C

Type of Gene: protein-coding

rs2270894 in CRELD1;IL17RC gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2270894 in CRELD1;IL17RC gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.