Gene: CARMIL2

Alternate names for this Gene: CARMIL2b|IMD58|LRRC16C|RLTPR

Gene Summary: This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: capping protein regulator and myosin 1 linker 2

Type of Gene: protein-coding

rs117556162 in CARMIL2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs141279119 in CARMIL2 gene and High density lipoprotein measurement PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs1567626023 in CARMIL2 gene and IMMUNODEFICIENCY 58 PMID 29479355 2018 Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.

PMID 27647349 2016 Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

PMID 27896283 2016 A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.