ANKLE2
entrez
23141
canonical
uniprot
Q86XL3
canonical
ensembl
ENSG00000176915
resolver
ensp
ENSP00000350686
resolver
ensp
ENSP00000658447
resolver
ensp
ENSP00000658449
resolver
ensp
ENSP00000716570
resolver
ensp
ENSP00000716579
resolver
ensp
ENSP00000729515
resolver
genesymbol
ANKLE2
resolver
genesymbol_syn
KIAA0692
resolver
genesymbol_syn
LEM4
resolver
hgnc
HGNC:29101
resolver
uniprot
A8KAG3
resolver
uniprot
B3KN97
resolver
uniprot
B3KSF8
resolver
uniprot
O75176
resolver
uniprot
Q6P6A5
resolver
uniprot
Q8TAZ9
resolver
uniprot
Q96DH4
resolver
uniprot_entry
ANKL2_HUMAN
resolver
uniprot_sec
A8KAG3
resolver
uniprot_sec
B3KN97
resolver
uniprot_sec
B3KSF8
resolver
uniprot_sec
O75176
resolver
uniprot_sec
Q6P6A5
resolver
uniprot_sec
Q8TAZ9
resolver
uniprot_sec
Q96DH4
resolver
amino_acid_sequence
MLWPRLAAAEWAALAWELLGASVLLIAVRWLVRRLGPRPGGLGRSGTPVPPPSAAAAPASGEMTMDALLARLKLLNPDDLREEIVKAGLKCGPITSTTRFIFEKKLAQALLEQGGRLSSFYHHEAGVTALSQDPQRILKPAEGNPTDQAGFSEDRDFGYSVGLNPPEEEAVTSKTCSVPPSDTDTYRAGATASKEPPLYYGVCPVYEDVPARNERIYVYENKKEALQAVKMIKGSRFKAFSTREDAEKFARGICDYFPSPSKTSLPLSPVKTAPLFSNDRLKDGLCLSESETVNKERANSYKNPRTQDLTAKLRKAVEKGEEDTFSDLIWSNPRYLIGSGDNPTIVQEGCRYNVMHVAAKENQASICQLTLDVLENPDFMRLMYPDDDEAMLQKRIRYVVDLYLNTPDKMGYDTPLHFACKFGNADVVNVLSSHHLIVKNSRNKYDKTPEDVICERSKNKSVELKERIREYLKGHYYVPLLRAEETSSPVIGELWSPDQTAEASHVSRYGGSPRDPVLTLRAFAGPLSPAKAEDFRKLWKTPPREKAGFLHHVKKSDPERGFERVGRELAHELGYPWVEYWEFLGCFVDLSSQEGLQRLEEYLTQQEIGKKAQQETGEREASCRDKATTSGSNSISVRAFLDEDDMSLEEIKNRQNAARNNSPPTVGAFGHTRCSAFPLEQEADLIEAAEPGGPHSSRNGLCHPLNHSRTLAGKRPKAPRGEEAHLPPVSDLTVEFDKLNLQNIGRSVSKTPDESTKTKDQILTSRINAVERDLLEPSPADQLGNGHRRTESEMSARIAKMSLSPSSPRHEDQLEVTREPARRLFLFGEEPSKLDQDVLAALECADVDPHQFPAVHRWKSAVLCYSPSDRQSWPSPAVKGRFKSQLPDLSGPHSYSPGRNSVAGSNPAKPGLGSPGRYSPVHGSQLRRMARLAELAAL
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269|PubMed:25259927, ECO:0000269|PubMed:30214071, ECO:0000269|PubMed:31735666}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit (PubMed:22770216). Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly (PubMed:22770216). May regulate nuclear localization of VRK1 in non-dividing cells (PubMed:31735666). It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex (PubMed:22770216). Involved in brain development (PubMed:25259927). {ECO:0000269|PubMed:22770216, ECO:0000269|PubMed:25259927, ECO:0000269|PubMed:31735666}.
uniprot
proteins
mass_dalton
104114
uniprot
proteins
protein_family
ANKLE2 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22770216
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25259927
uniprot
proteins
pubmed
30214071
uniprot
proteins
pubmed
30550790
uniprot
proteins
pubmed
31735666
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
938
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22770216}; Single-pass type III membrane protein {ECO:0000269|PubMed:22770216}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..32; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins