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FLASH GENE

Symbol

ANKLE2

contributors: npt - updated : 23-09-2016

HGNC name	ankyrin repeat and LEM domain containing 2
HGNC id	29101

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCPH16 microcephaly 16, primary
Location	12q24.33      Physical location : 133.302.253 - 133.338.451
Synonym name	LEM domain containing 7
	cDNA sequence,expressed in brain, 80kDa
	ANK repeat and LEM domain-containing protein KIAA0692
	hypothetical protein LOC23141
Synonym symbol(s)	KIAA0692, LEMD7, FLJ22280, FLJ36132, Lem4

DNA

TYPE	functioning gene
STRUCTURE	36.22 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015114 13 - 4499 NP_055929 104 938 - 2012 22770216

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a LEM-domain, which binds a conserved chromatin protein named BANF1

HOMOLOGY

interspecies

ortholog to C. elegans protein Lem-4l

Homologene

FAMILY

LEM-domain proteins family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus,nucleoplasm
text	most LEM-domain proteins are found at the nuclear membrane, but some are nucleoplasmic

basic FUNCTION	required for BANF1 dephosphorylation
	by coordinating PPP2CA-mediated signaling on BANF1, controls postmitotic nuclear envelope (NE) formation in a function conserved from worms to humans
	conserved protein of the nuclear envelope, that is an essential coordinator of kinase and phosphatase activities during mitotic exit
	contribution of ANKLE2 in the regulation of protein phosphorylation and nuclear reformation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with PPP2CA and is required for it to dephosphorylate BANF1 during mitotic exit
	ZNF335 restoring the expression of one target, ANKLE2, partially rescues T cell maturation
	ANKLE2 acetylation at K302 and phosphorylation at S662 are dynamically regulated throughout the cell cycle by SIRT2 and are essential for normal nuclear envelope reassembly

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCPH16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS