Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23141
Gene name	Ankyrin repeat and LEM domain containing 2
Gene symbol	ANKLE2
Synonyms (NCBI Gene)	KIAA0692LEMD7Lem4MCPH16
Chromosome	12
Chromosome location	12q24.33
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 env

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201785518	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained, downstream transcript variant
rs863225465	G>C	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1185537869	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

144

Show/Hide all (144)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031684	hsa-miR-16-5p	Proteomics	18668040
MIRT049020	hsa-miR-92a-3p	CLASH	23622248
MIRT782320	hsa-miR-1231	CLIP-seq
MIRT782321	hsa-miR-1303	CLIP-seq
MIRT782322	hsa-miR-146a	CLIP-seq
MIRT782323	hsa-miR-146b-5p	CLIP-seq
MIRT782324	hsa-miR-1539	CLIP-seq
MIRT782325	hsa-miR-188-5p	CLIP-seq
MIRT782326	hsa-miR-18a	CLIP-seq
MIRT782327	hsa-miR-18b	CLIP-seq
MIRT782328	hsa-miR-191	CLIP-seq
MIRT782329	hsa-miR-3120-5p	CLIP-seq
MIRT782330	hsa-miR-3123	CLIP-seq
MIRT782331	hsa-miR-3185	CLIP-seq
MIRT782332	hsa-miR-3192	CLIP-seq
MIRT782333	hsa-miR-3193	CLIP-seq
MIRT782334	hsa-miR-339-5p	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT782336	hsa-miR-3646	CLIP-seq
MIRT782337	hsa-miR-3662	CLIP-seq
MIRT782338	hsa-miR-3670	CLIP-seq
MIRT782339	hsa-miR-3908	CLIP-seq
MIRT782340	hsa-miR-3920	CLIP-seq
MIRT782341	hsa-miR-3925-5p	CLIP-seq
MIRT782342	hsa-miR-3942-5p	CLIP-seq
MIRT782343	hsa-miR-4261	CLIP-seq
MIRT782344	hsa-miR-4268	CLIP-seq
MIRT782345	hsa-miR-4314	CLIP-seq
MIRT782346	hsa-miR-4422	CLIP-seq
MIRT782347	hsa-miR-4448	CLIP-seq
MIRT782348	hsa-miR-450b-3p	CLIP-seq
MIRT782349	hsa-miR-4523	CLIP-seq
MIRT782350	hsa-miR-4645-3p	CLIP-seq
MIRT782351	hsa-miR-4646-5p	CLIP-seq
MIRT782352	hsa-miR-4652-3p	CLIP-seq
MIRT782353	hsa-miR-4663	CLIP-seq
MIRT782354	hsa-miR-4670-3p	CLIP-seq
MIRT782355	hsa-miR-4703-5p	CLIP-seq
MIRT782356	hsa-miR-4713-3p	CLIP-seq
MIRT782357	hsa-miR-4735-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT782359	hsa-miR-4762-3p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT782361	hsa-miR-4774-5p	CLIP-seq
MIRT782362	hsa-miR-4777-5p	CLIP-seq
MIRT782363	hsa-miR-4778-5p	CLIP-seq
MIRT782364	hsa-miR-483-3p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT782366	hsa-miR-495	CLIP-seq
MIRT782367	hsa-miR-514	CLIP-seq
MIRT782368	hsa-miR-514b-3p	CLIP-seq
MIRT782369	hsa-miR-532-3p	CLIP-seq
MIRT782370	hsa-miR-541	CLIP-seq
MIRT782371	hsa-miR-548c-3p	CLIP-seq
MIRT782372	hsa-miR-548p	CLIP-seq
MIRT782373	hsa-miR-566	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT782375	hsa-miR-579	CLIP-seq
MIRT782376	hsa-miR-580	CLIP-seq
MIRT782377	hsa-miR-589	CLIP-seq
MIRT782378	hsa-miR-629	CLIP-seq
MIRT782379	hsa-miR-638	CLIP-seq
MIRT782380	hsa-miR-654-5p	CLIP-seq
MIRT782381	hsa-miR-662	CLIP-seq
MIRT782382	hsa-miR-769-3p	CLIP-seq
MIRT782383	hsa-miR-889	CLIP-seq
MIRT782384	hsa-miR-934	CLIP-seq
MIRT1930936	hsa-miR-1228	CLIP-seq
MIRT1930937	hsa-miR-1229	CLIP-seq
MIRT1930938	hsa-miR-149	CLIP-seq
MIRT1930939	hsa-miR-3140-5p	CLIP-seq
MIRT1930940	hsa-miR-338-5p	CLIP-seq
MIRT1930941	hsa-miR-342-3p	CLIP-seq
MIRT782337	hsa-miR-3662	CLIP-seq
MIRT1930942	hsa-miR-3942-3p	CLIP-seq
MIRT1930943	hsa-miR-4282	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT1930945	hsa-miR-4786-5p	CLIP-seq
MIRT1930946	hsa-miR-4799-5p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT1930947	hsa-miR-769-5p	CLIP-seq
MIRT1930948	hsa-miR-885-5p	CLIP-seq
MIRT2171466	hsa-miR-124	CLIP-seq
MIRT2171467	hsa-miR-140-3p	CLIP-seq
MIRT782325	hsa-miR-188-5p	CLIP-seq
MIRT782328	hsa-miR-191	CLIP-seq
MIRT2171468	hsa-miR-203	CLIP-seq
MIRT2171469	hsa-miR-3065-3p	CLIP-seq
MIRT782329	hsa-miR-3120-5p	CLIP-seq
MIRT2171470	hsa-miR-3145-3p	CLIP-seq
MIRT2171471	hsa-miR-3163	CLIP-seq
MIRT2171472	hsa-miR-3180-5p	CLIP-seq
MIRT782334	hsa-miR-339-5p	CLIP-seq
MIRT2171473	hsa-miR-340	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT2171474	hsa-miR-377	CLIP-seq
MIRT2171475	hsa-miR-4469	CLIP-seq
MIRT2171476	hsa-miR-4539	CLIP-seq
MIRT782354	hsa-miR-4670-3p	CLIP-seq
MIRT2171477	hsa-miR-4683	CLIP-seq
MIRT2171478	hsa-miR-4700-3p	CLIP-seq
MIRT2171479	hsa-miR-4717-3p	CLIP-seq
MIRT2171480	hsa-miR-4727-5p	CLIP-seq
MIRT2171481	hsa-miR-4733-5p	CLIP-seq
MIRT782360	hsa-miR-4766-3p	CLIP-seq
MIRT2171482	hsa-miR-4768-3p	CLIP-seq
MIRT2171483	hsa-miR-4769-3p	CLIP-seq
MIRT2171484	hsa-miR-4802-3p	CLIP-seq
MIRT782365	hsa-miR-487b	CLIP-seq
MIRT2171485	hsa-miR-506	CLIP-seq
MIRT2171486	hsa-miR-520a-5p	CLIP-seq
MIRT2171487	hsa-miR-525-5p	CLIP-seq
MIRT2171488	hsa-miR-548an	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq
MIRT2171489	hsa-miR-642a	CLIP-seq
MIRT2443657	hsa-miR-3655	CLIP-seq
MIRT2474436	hsa-miR-1245b-3p	CLIP-seq
MIRT2474437	hsa-miR-1297	CLIP-seq
MIRT2474438	hsa-miR-1298	CLIP-seq
MIRT2171467	hsa-miR-140-3p	CLIP-seq
MIRT2474439	hsa-miR-154	CLIP-seq
MIRT2474440	hsa-miR-205	CLIP-seq
MIRT2474441	hsa-miR-26a	CLIP-seq
MIRT2474442	hsa-miR-26b	CLIP-seq
MIRT2474443	hsa-miR-3141	CLIP-seq
MIRT2474444	hsa-miR-3665	CLIP-seq
MIRT2171474	hsa-miR-377	CLIP-seq
MIRT2474445	hsa-miR-4465	CLIP-seq
MIRT2474446	hsa-miR-4710	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT2474447	hsa-miR-4792	CLIP-seq
MIRT2474448	hsa-miR-657	CLIP-seq
MIRT782321	hsa-miR-1303	CLIP-seq
MIRT782330	hsa-miR-3123	CLIP-seq
MIRT2474443	hsa-miR-3141	CLIP-seq
MIRT1930940	hsa-miR-338-5p	CLIP-seq
MIRT782335	hsa-miR-34c-3p	CLIP-seq
MIRT782341	hsa-miR-3925-5p	CLIP-seq
MIRT1930944	hsa-miR-4715-3p	CLIP-seq
MIRT782358	hsa-miR-4761-5p	CLIP-seq
MIRT782374	hsa-miR-570	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004860	Function	Protein kinase inhibitor activity	IDA	22770216
GO:0005515	Function	Protein binding	IPI	22770216, 33961781, 34819669
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	22770216
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0007084	Process	Mitotic nuclear membrane reassembly	IBA
GO:0007084	Process	Mitotic nuclear membrane reassembly	IMP	22770216
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	IDA	25259927
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019888	Function	Protein phosphatase regulator activity	TAS	22770216
GO:0031468	Process	Nuclear membrane reassembly	IEA
GO:0042326	Process	Negative regulation of phosphorylation	IDA	22770216
GO:0043066	Process	Negative regulation of apoptotic process	IDA	25259927
GO:0050790	Process	Regulation of catalytic activity	TAS	22770216
GO:0051301	Process	Cell division	IEA
GO:0051721	Function	Protein phosphatase 2A binding	IBA
GO:0051721	Function	Protein phosphatase 2A binding	IDA	22770216

MIM	HGNC	e!Ensembl
616062	29101	ENSG00000176915

Q86XL3

Protein name

Ankyrin repeat and LEM domain-containing protein 2 (LEM domain-containing protein 4)

Protein 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 o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03020	LEM	72 → 110	LEM domain	Domain
PF01693	Cauli_VI	211 → 249	Caulimovirus viroplasmin	Family

Sequence

MLWPRLAAAEWAALAWELLGASVLLIAVRWLVRRLGPRPGGLGRSGTPVPPPSAAAAPAS
GEMTMDALLARLKLLNPDDLREEIVKAGLKCGPITSTTRFIFEKKLAQALLEQGGRLSSF
YHHEAGVTALSQDPQRILKPAEGNPTDQAGFSEDRDFGYSVGLNPPEEEAVTSKTCSVPP
SDTDTYRAGATASKEPPLYYGVCPVYEDVPARNERIYVYENKKEALQAVKMIKGSRFKAF
STREDAEKFARGICDYFPSPSKTSLPLSPVKTAPLFSNDRLKDGLCLSESETVNKERANS
YKNPRTQDLTAKLRKAVEKGEEDTFSDLIWSNPRYLIGSGDNPTIVQEGCRYNVMHVAAK
ENQASICQLTLDVLENPDFMRLMYPDDDEAMLQKRIRYVVDLYLNTPDKMGYDTPLHFAC
KFGNADVVNVLSSHHLIVKNSRNKYDKTPEDVICERSKNKSVELKERIREYLKGHYYVPL
LRAEETSSPVIGELWSPDQTAEASHVSRYGGSPRDPVLTLRAFAGPLSPAKAEDFRKLWK
TPPREKAGFLHHVKKSDPERGFERVGRELAHELGYPWVEYWEFLGCFVDLSSQEGLQRLE
EYLTQQEIGKKAQQETGEREASCRDKATTSGSNSISVRAFLDEDDMSLEEIKNRQNAARN
NSPPTVGAFGHTRCSAFPLEQEADLIEAAEPGGPHSSRNGLCHPLNHSRTLAGKRPKAPR
GEEAHLPPVSDLTVEFDKLNLQNIGRSVSKTPDESTKTKDQILTSRINAVERDLLEPSPA
DQLGNGHRRTESEMSARIAKMSLSPSSPRHEDQLEVTREPARRLFLFGEEPSKLDQDVLA
ALECADVDPHQFPAVHRWKSAVLCYSPSDRQSWPSPAVKGRFKSQLPDLSGPHSYSPGRN
SVAGSNPAKPGLGSPGRYSPVHGSQLRRMARLAELAAL

Sequence length

938

Interactions

View interactions

	Reactome
			Initiation of Nuclear Envelope (NE) Reformation

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypotonia	Pathogenic	rs1380982250	RCV001268940
Intellectual disability	Pathogenic	rs1380982250	RCV001268940
Microcephaly	Likely pathogenic	rs863225465	RCV000203271
Microcephaly 16, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs863225465, rs753596204, rs753680111, rs1185537869, rs1380982250	RCV000202421 RCV003152518 RCV004594876 RCV000786054 RCV003992460
Vanishing white matter disease	Pathogenic	rs1380982250	RCV001268940

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs117621224	RCV005914972
ANKLE2-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs199617196, rs922629529, rs762852125, rs765057984, rs201957832, rs780341126, rs774399611, rs552419420, rs376393173, rs2043718849, rs185739493, rs373809667, rs185584106, rs375031409, rs375883345 View all (5 more)	RCV003946388 RCV003963757 RCV003983501 RCV003904497 RCV003903849 RCV003939507 RCV003956874 RCV003957184 RCV003969515 RCV003976450 RCV003958004 RCV003910843 RCV003910815 RCV003923017 RCV003970391 RCV003923225 RCV003923148 RCV003913118 RCV003913155 RCV003898010
Cervical cancer	Likely benign	rs117621224	RCV005914974
Lung cancer	Likely benign	rs117621224	RCV005914978
Malignant tumor of esophagus	Likely benign	rs117621224	RCV005914973
Sarcoma	Likely benign	rs117621224	RCV005914975
See cases	Benign; Likely benign	rs77116800, rs185584106	RCV002252266 RCV002252267
Thymoma	Likely benign	rs117621224	RCV005914977
Uterine carcinosarcoma	Likely benign	rs117621224	RCV005914976

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Microcephaly	Associate	30214071
Neoplasms	Associate	35619151
Ovarian Neoplasms	Associate	35619151

ANKLE2 (ankyrin repeat and LEM domain containing 2)