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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
  • 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 and Autosomal Recessive Primary Microcephaly. Among its related pathways are Initiation of Nuclear Envelope Reformation and Mitotic Metaphase and Anaphase. GO annotations related to this gene include protein phosphatase type 2A regulator activity and 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.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ANKLE2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ANKLE2 Gene at MOPED

Post-translational modifications for ANKLE2 Gene

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

Other Protein References for ANKLE2 Gene

Antibody Products

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.

Gene Ontology (GO) - Molecular Function for ANKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 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

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:0005789 endoplasmic reticulum membrane TAS --
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:0007067 mitotic nuclear division IEA --
GO:0042326 negative regulation of phosphorylation IDA 22770216
GO:0050790 regulation of catalytic activity TAS 22770216
genes like me logo Genes that share ontologies with ANKLE2: view

Drugs & Compounds for ANKLE2 Gene

No Compound Related Data Available

Transcripts for ANKLE2 Gene

mRNA/cDNA for ANKLE2 Gene

(8) 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:

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, MOPED, and MaxQB for ANKLE2 Gene



SOURCE GeneReport for Unigene cluster for ANKLE2 Gene Hs.654628

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

Protein tissue co-expression partners for ANKLE2 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia ANKLE2 35
  • 80.89 (n)
  • 77.28 (a)
ANKLE2 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKLE2 35
  • 79.96 (n)
  • 75.69 (a)
ANKLE2 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankle2 35
  • 75.97 (n)
  • 70.8 (a)
Ankle2 16
Ankle2 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKLE2 35
  • 99.51 (n)
  • 99.02 (a)
rat
(Rattus norvegicus)
Mammalia Ankle2 35
  • 76.6 (n)
  • 71.35 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKLE2 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKLE2 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKLE2 35
  • 66.78 (n)
  • 63.16 (a)
ANKLE2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKLE2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankle2 35
  • 60.38 (n)
  • 59.9 (a)
zebrafish
(Danio rerio)
Actinopterygii ankle2 35
  • 58.49 (n)
  • 56.19 (a)
ankle2 36
  • 46 (a)
OneToMany
zdhhc8a 36
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0222 36
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lem-4 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
-- 36
  • 24 (a)
OneToMany
Species with no ortholog for ANKLE2:
  • 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
rs1132375 - 132,754,951(-) TCTAC(C/T)ACCAT reference, missense
rs7968520 - 132,754,873(+) AGCCT(C/G)ATCAG reference, missense
rs10781634 - 132,730,003(+) CCCCA(A/C/T)GGGGG intron-variant, downstream-variant-500B, reference, missense
rs7134368 -- 132,736,593(+) TCAAC(A/G)CAGCA intron-variant
rs15683 -- 132,727,248(-) GCCGC(C/T)CTGTA reference, synonymous-codon, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1534n71 CNV Loss 21882294
nsv53840 CNV Insertion 16902084
esv21605 CNV Gain 19812545
esv2747035 CNV Deletion 23290073
esv2328159 CNV Deletion 18987734
nsv53329 CNV Loss 16902084
esv2747036 CNV Deletion 23290073
dgv1544n71 CNV Loss 21882294
nsv513379 CNV Insertion 21212237
esv2621079 CNV Insertion 19546169
esv2747037 CNV Deletion 23290073
esv2747038 CNV Deletion 23290073
esv1009039 CNV Deletion 20482838
esv1331463 CNV Deletion 17803354
esv2747039 CNV Deletion 23290073

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

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

Disorders for ANKLE2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microcephaly
  • microcephalus
autosomal recessive primary microcephaly
  • mcph
smallpox
  • ordinary smallpox
scurvy
  • deficiency of vitamin c
pigmented villonodular synovitis
  • testicular germ cell tumor
- elite association - COSMIC cancer census association via MalaCards

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 UniProtKB/Swiss-Prot and 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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for ANKLE2 Gene

Sources for ANKLE2 Gene

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