ANKLE2 ankyrin repeat and LEM domain containing 2

Gene ID: 23141, updated on 18-Sep-2024
Gene type: protein coding
Also known as: Lem4; LEMD7; MCPH16; KIAA0692

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. [provided by RefSeq, Mar 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available
Microcephaly 16, primary, autosomal recessive MedGen: C4225249OMIM: 616681GeneReviews: Not available	See labs

Genomic context

Location:: 12q24.33

Sequence:: Chromosome: 12; NC_000012.12 (132725503..132761832, complement)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ANKLE2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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