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Aliases for ANKLE2 Gene

Aliases for ANKLE2 Gene

  • Ankyrin Repeat And LEM Domain Containing 2 2 3 5
  • KIAA0692 2 3 4
  • LEM Domain-Containing Protein 4 3 4
  • LEM Domain Containing 7 2 3
  • Lem4 3 4
  • Ankyrin Repeat And LEM Domain-Containing Protein 2 3
  • MCPH16 3
  • LEMD7 3

External Ids for ANKLE2 Gene

Previous HGNC Symbols for ANKLE2 Gene

  • KIAA0692

Previous GeneCards Identifiers for ANKLE2 Gene

  • GC12M131812
  • GC12M133302
  • GC12M130081

Summaries for ANKLE2 Gene

Entrez Gene Summary for ANKLE2 Gene

  • 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]

GeneCards Summary for ANKLE2 Gene

ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2) is a Protein Coding gene. Diseases associated with ANKLE2 include Microcephaly 16, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic. GO annotations related to this gene include protein phosphatase 2A binding.

UniProtKB/Swiss-Prot for ANKLE2 Gene

  • Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. 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. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKLE2 Gene

Genomics for ANKLE2 Gene

Regulatory Elements for ANKLE2 Gene

Enhancers for ANKLE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F132765 1.2 Ensembl ENCODE 39.9 -7.8 -7755 9.3 HDGF TBP ATF1 PKNOX1 CBX3 WRNIP1 SIN3A ZBTB40 ZNF2 RAD21 ANKLE2 GOLGA3 PGAM5 CHFR LOC101928530 P2RX2 ENSG00000283396
GH12F132759 0.6 ENCODE 39.1 +0.5 536 4.2 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS ANKLE2 GOLGA3 POLE LRCOL1 ZNF84 LOC100419935
GH12F132833 1.1 Ensembl ENCODE 27.2 -73.5 -73537 3.2 PKNOX1 NCOR1 TAL1 BHLHE40 CREM ANKLE2 CHFR PUS1 ENSG00000250790 RNU6-327P PIR43195
GH12F132827 0.5 ENCODE 27.2 -66.6 -66595 2.6 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ANKLE2 ZNF26 ZNF891 ZNF140 EP400 ZNF10 ENSG00000255919 PUS1 ZNF84 NOC4L
GH12F132837 1.3 FANTOM5 Ensembl ENCODE 27.1 -76.3 -76295 2.0 POLR2A ANKLE2 CHFR GC12M132836 GC12P132856
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ANKLE2 on UCSC Golden Path with GeneCards custom track

Promoters for ANKLE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000439733 88 2801 HDGF WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SP3

Genomic Location for ANKLE2 Gene

Chromosome:
12
Start:
132,725,503 bp from pter
End:
132,761,888 bp from pter
Size:
36,386 bases
Orientation:
Minus strand

Genomic View for ANKLE2 Gene

Genes around ANKLE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKLE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKLE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKLE2 Gene

Proteins for ANKLE2 Gene

  • Protein details for ANKLE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XL3-ANKL2_HUMAN
    Recommended name:
    Ankyrin repeat and LEM domain-containing protein 2
    Protein Accession:
    Q86XL3
    Secondary Accessions:
    • A8KAG3
    • B3KN97
    • B3KSF8
    • O75176
    • Q6P6A5
    • Q8TAZ9
    • Q96DH4

    Protein attributes for ANKLE2 Gene

    Size:
    938 amino acids
    Molecular mass:
    104114 Da
    Quaternary structure:
    • Interacts with BAF/BANF1. Interacts with protein phosphatase 2A (PP2A) components PPP2C (PPP2CA or PPP2CB) and PPP2R1A.
    SequenceCaution:
    • Sequence=BAG51259.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKLE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKLE2 Gene

Post-translational modifications for ANKLE2 Gene

  • Ubiquitination at Lys 90 and Lys 394
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKLE2 Gene

Domains & Families for ANKLE2 Gene

Suggested Antigen Peptide Sequences for ANKLE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86XL3

UniProtKB/Swiss-Prot:

ANKL2_HUMAN :
  • Contains 1 LEM domain.
  • Belongs to the ANKLE2 family.
  • Contains 1 ANK repeat.
Domain:
  • Contains 1 LEM domain.
Family:
  • Belongs to the ANKLE2 family.
Similarity:
  • Contains 1 ANK repeat.
genes like me logo Genes that share domains with ANKLE2: view

Function for ANKLE2 Gene

Molecular function for ANKLE2 Gene

UniProtKB/Swiss-Prot Function:
Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. 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. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development (PubMed:25259927).

Gene Ontology (GO) - Molecular Function for ANKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22770216
GO:0019888 protein phosphatase regulator activity TAS 22770216
GO:0051721 protein phosphatase 2A binding IDA 22770216
genes like me logo Genes that share ontologies with ANKLE2: view

Phenotypes for ANKLE2 Gene

GenomeRNAi human phenotypes for ANKLE2:
genes like me logo Genes that share phenotypes with ANKLE2: view

Human Phenotype Ontology for ANKLE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ANKLE2 Gene

miRTarBase miRNAs that target ANKLE2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKLE2 Gene

Localization for ANKLE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKLE2 Gene

Endoplasmic reticulum membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKLE2 Gene COMPARTMENTS Subcellular localization image for ANKLE2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2

Gene Ontology (GO) - Cellular Components for ANKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 22770216
genes like me logo Genes that share ontologies with ANKLE2: view

Pathways & Interactions for ANKLE2 Gene

genes like me logo Genes that share pathways with ANKLE2: view

Pathways by source for ANKLE2 Gene

SIGNOR curated interactions for ANKLE2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ANKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0007417 central nervous system development IDA 25259927
GO:0034047 regulation of protein phosphatase type 2A activity IEA --
genes like me logo Genes that share ontologies with ANKLE2: view

Transcripts for ANKLE2 Gene

mRNA/cDNA for ANKLE2 Gene

(7) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKLE2 Gene

Ankyrin repeat and LEM domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKLE2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - - - - - - - - - - -
SP7: - - -
SP8: - - -
SP9:
SP10: - -
SP11: -
SP12:
SP13: -
SP14: -

ExUns: 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1: - -
SP2:
SP3:
SP4:
SP5: - -
SP6: - - - -
SP7:
SP8: - - - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -

Relevant External Links for ANKLE2 Gene

GeneLoc Exon Structure for
ANKLE2
ECgene alternative splicing isoforms for
ANKLE2

Expression for ANKLE2 Gene

mRNA expression in normal human tissues for ANKLE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKLE2 Gene

This gene is overexpressed in Fetal Brain (37.9) and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKLE2 Gene



Protein tissue co-expression partners for ANKLE2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKLE2 Gene:

ANKLE2

SOURCE GeneReport for Unigene cluster for ANKLE2 Gene:

Hs.654628
genes like me logo Genes that share expression patterns with ANKLE2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANKLE2 Gene

Orthologs for ANKLE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKLE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKLE2 34
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia ANKLE2 34 35
  • 80.89 (n)
dog
(Canis familiaris)
Mammalia ANKLE2 34 35
  • 79.96 (n)
rat
(Rattus norvegicus)
Mammalia Ankle2 34
  • 76.6 (n)
mouse
(Mus musculus)
Mammalia Ankle2 34 16 35
  • 75.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKLE2 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKLE2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKLE2 34 35
  • 66.78 (n)
lizard
(Anolis carolinensis)
Reptilia ANKLE2 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankle2 34
  • 60.38 (n)
zebrafish
(Danio rerio)
Actinopterygii ankle2 34 35
  • 58.49 (n)
zdhhc8a 35
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0222 35
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lem-4 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
-- 35
  • 24 (a)
OneToMany
Species where no ortholog for ANKLE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANKLE2 Gene

ENSEMBL:
Gene Tree for ANKLE2 (if available)
TreeFam:
Gene Tree for ANKLE2 (if available)

Paralogs for ANKLE2 Gene

No data available for Paralogs for ANKLE2 Gene

Variants for ANKLE2 Gene

Sequence variations from dbSNP and Humsavar for ANKLE2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs863225465 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681], Pathogenic 132,734,559(-) ATGAG(C/G)TGGGG intron-variant, reference, missense
rs201785518 Pathogenic 132,729,818(+) GAGTT(A/G)GTCTG intron-variant, nc-transcript-variant, downstream-variant-500B, reference, stop-gained
rs200911469 Uncertain significance 132,755,103(+) TCAAT(A/C/T)GAGCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10437912 -- 132,727,560(+) AGGCA(C/T)TGGTG intron-variant
rs10437913 -- 132,727,563(+) CACTG(C/G)TGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKLE2 Gene

Variant ID Type Subtype PubMed ID
dgv3057n54 CNV loss 21841781
dgv533e212 CNV loss 25503493
dgv916n106 CNV duplication 24896259
esv1009039 CNV deletion 20482838
esv1331463 CNV deletion 17803354
esv21605 CNV gain 19812545
esv2328159 CNV deletion 18987734
esv2621079 CNV insertion 19546169
esv2747035 CNV deletion 23290073
esv2747036 CNV deletion 23290073
esv2747037 CNV deletion 23290073
esv2747038 CNV deletion 23290073
esv2747039 CNV deletion 23290073
esv3310562 CNV novel sequence insertion 20981092
esv3446312 CNV duplication 20981092
esv3550096 CNV deletion 23714750
esv3580552 CNV loss 25503493
esv3580555 CNV loss 25503493
esv3631310 CNV loss 21293372
esv3631311 CNV gain 21293372
esv3631312 CNV loss 21293372
esv3631313 CNV loss 21293372
esv3631314 CNV gain 21293372
nsv1037074 CNV gain 25217958
nsv1047500 CNV gain 25217958
nsv1069729 CNV deletion 25765185
nsv1134281 CNV deletion 24896259
nsv1138189 CNV deletion 24896259
nsv1149687 CNV duplication 26484159
nsv513379 CNV insertion 21212237
nsv53329 CNV deletion 16902084
nsv53840 CNV insertion 16902084
nsv561121 CNV gain 21841781
nsv561122 CNV loss 21841781
nsv561123 CNV loss 21841781
nsv561125 CNV gain+loss 21841781
nsv561126 CNV loss 21841781
nsv561128 CNV loss 21841781
nsv561129 CNV loss 21841781

Variation tolerance for ANKLE2 Gene

Residual Variation Intolerance Score: 39.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.88; 93.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKLE2 Gene

Human Gene Mutation Database (HGMD)
ANKLE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKLE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKLE2 Gene

Disorders for ANKLE2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ANKLE2 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 16, primary, autosomal recessive
  • mcph16
autosomal recessive primary microcephaly
  • mcph
smallpox
  • ordinary smallpox
scurvy
  • deficiency of vitamin c
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANKL2_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANKLE2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKLE2
genes like me logo Genes that share disorders with ANKLE2: view

No data available for Genatlas for ANKLE2 Gene

Publications for ANKLE2 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. (PMID: 25259927) Yamamoto S. … Bellen H.J. (Cell 2014) 3 4 64
  3. Coordination of kinase and phosphatase activities by Lem4 enables nuclear envelope reassembly during mitosis. (PMID: 22770216) Asencio C. … Gorjanacz M. (Cell 2012) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ANKLE2 Gene

Sources for ANKLE2 Gene

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