Gene: ANKLE2

Alternate names for this Gene: KIAA0692|LEMD7|Lem4|MCPH16

Gene Summary: This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.33

Description of this Gene: ankyrin repeat and LEM domain containing 2

Type of Gene: protein-coding

rs7138235 in ANKLE2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117646359 in ANKLE2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs863225465 in ANKLE2 gene and MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE PMID 25259927 2014 A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

rs11147040 in ANKLE2 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.