• Gene id: 23141

Gene Summary

• Gene Symbol: ANKLE2   Gene   UCSC   Ensembl
• Aliases: KIAA0692, LEMD7, Lem4, MCPH16
• Gene name: ankyrin repeat and LEM domain containing 2
• Alternate names: ankyrin repeat and LEM domain-containing protein 2, LEM domain containing 7, LEM domain-containing protein 4,
• Gene location: 12q24.33 (132761831: 132725502)     Exons: 7     NC_000012.12
• Gene summary(Entrez): 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 env
• OMIM: 616062

Protein Summary

• Protein general information: Q86XL3  
  • Name: Ankyrin repeat and LEM domain containing protein 2 (LEM domain containing protein 4)
  • Length: 938  
  • Mass: 104114
• Sequence:

  MLWPRLAAAEWAALAWELLGASVLLIAVRWLVRRLGPRPGGLGRSGTPVPPPSAAAAPASGEMTMDALLARLKLL
  NPDDLREEIVKAGLKCGPITSTTRFIFEKKLAQALLEQGGRLSSFYHHEAGVTALSQDPQRILKPAEGNPTDQAG
  FSEDRDFGYSVGLNPPEEEAVTSKTCSVPPSDTDTYRAGATASKEPPLYYGVCPVYEDVPARNERIYVYENKKEA
  LQAVKMIKGSRFKAFSTREDAEKFARGICDYFPSPSKTSLPLSPVKTAPLFSNDRLKDGLCLSESETVNKERANS
  YKNPRTQDLTAKLRKAVEKGEEDTFSDLIWSNPRYLIGSGDNPTIVQEGCRYNVMHVAAKENQASICQLTLDVLE
  NPDFMRLMYPDDDEAMLQKRIRYVVDLYLNTPDKMGYDTPLHFACKFGNADVVNVLSSHHLIVKNSRNKYDKTPE
  DVICERSKNKSVELKERIREYLKGHYYVPLLRAEETSSPVIGELWSPDQTAEASHVSRYGGSPRDPVLTLRAFAG
  PLSPAKAEDFRKLWKTPPREKAGFLHHVKKSDPERGFERVGRELAHELGYPWVEYWEFLGCFVDLSSQEGLQRLE
  EYLTQQEIGKKAQQETGEREASCRDKATTSGSNSISVRAFLDEDDMSLEEIKNRQNAARNNSPPTVGAFGHTRCS
  AFPLEQEADLIEAAEPGGPHSSRNGLCHPLNHSRTLAGKRPKAPRGEEAHLPPVSDLTVEFDKLNLQNIGRSVSK
  TPDESTKTKDQILTSRINAVERDLLEPSPADQLGNGHRRTESEMSARIAKMSLSPSSPRHEDQLEVTREPARRLF
  LFGEEPSKLDQDVLAALECADVDPHQFPAVHRWKSAVLCYSPSDRQSWPSPAVKGRFKSQLPDLSGPHSYSPGRN
  SVAGSNPAKPGLGSPGRYSPVHGSQLRRMARLAELAAL

• Structural information:
  • Protein Domains: (69..11-)
    (/note="LEM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00313"-)
  • Interpro: IPR035007  IPR036770  IPR011015  IPR035006  IPR003887   IPR011320  IPR037056  
  • Prosite: PS50954
  • CDD: cd12944
  • STRING: ENSP00000350686
• Other Databases: GeneCards:  ANKLE2  Malacards:  ANKLE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051721	protein phosphatase 2A binding	IBA	molecular function
GO:0035307	positive regulation of protein dephosphorylation	IBA	biological process
GO:0007084	mitotic nuclear envelope reassembly	IBA	biological process
GO:0042326	negative regulation of phosphorylation	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0007417	central nervous system development	IDA	biological process
GO:0051721	protein phosphatase 2A binding	IDA	molecular function
GO:0035307	positive regulation of protein dephosphorylation	IDA	biological process
GO:0050790	regulation of catalytic activity	TAS	biological process
GO:0019888	protein phosphatase regulator activity	TAS	molecular function
GO:0007084	mitotic nuclear envelope reassembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007084	mitotic nuclear envelope reassembly	IEA	biological process
GO:0035307	positive regulation of protein dephosphorylation	IEA	biological process
GO:0051721	protein phosphatase 2A binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007084	mitotic nuclear envelope reassembly	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Primary microcephaly	KEGG:H00269
Primary microcephaly	KEGG:H00269
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq