Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ANKLE2 (ankyrin repeat and LEM domain containing 2)

Identity

Alias (NCBI)KIAA0692
LEMD7
Lem4
MCPH16
HGNC (Hugo) ANKLE2
HGNC Alias symbLEMD7
Lem4
HGNC Alias nameLEM domain containing 7
HGNC Previous nameKIAA0692
HGNC Previous nameKIAA0692
LocusID (NCBI) 23141
Atlas_Id 57795
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 132725505 and ends at 132761832 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ANKLE2 (12q24.33) / HLA-B (6p21.33)ANKLE2 (12q24.33) / NCOR2 (12q24.31)ANKLE2 (12q24.33) / NOC4L (12q24.33)
ANKLE2 (12q24.33) / SNU13 (22q13.2)ARSA (22q13.33) / ANKLE2 (12q24.33)C17orf89 (17q25.3) / ANKLE2 (12q24.33)
C1orf21 (1q25.3) / ANKLE2 (12q24.33)HSP90AB1 (6p21.1) / ANKLE2 (12q24.33)LARP1 (5q33.2) / ANKLE2 (12q24.33)
PLXNB1 (3p21.31) / ANKLE2 (12q24.33)PMEL (12q13.2) / ANKLE2 (12q24.33)ZNF252P (8q24.3) / ANKLE2 (12q24.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ANKLE2   29101
Cards
Entrez_Gene (NCBI)ANKLE2    ankyrin repeat and LEM domain containing 2
AliasesKIAA0692; LEMD7; Lem4; MCPH16
GeneCards (Weizmann)ANKLE2
Ensembl hg19 (Hinxton)ENSG00000176915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176915 [Gene_View]  ENSG00000176915 [Sequence]  chr12:132725505-132761832 [Contig_View]  ANKLE2 [Vega]
ICGC DataPortalENSG00000176915
TCGA cBioPortalANKLE2
AceView (NCBI)ANKLE2
Genatlas (Paris)ANKLE2
SOURCE (Princeton)ANKLE2
Genetics Home Reference (NIH)ANKLE2
Genomic and cartography
GoldenPath hg38 (UCSC)ANKLE2  -     chr12:132725505-132761832 -  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKLE2  -     12q24.33   [Description]    (hg19-Feb_2009)
GoldenPathANKLE2 - 12q24.33 [CytoView hg19]  ANKLE2 - 12q24.33 [CytoView hg38]
ImmunoBaseENSG00000176915
Genome Data Viewer NCBIANKLE2 [Mapview hg19]  
OMIM616062   616681   
Gene and transcription
Genbank (Entrez)AB014592 AK024061 AK025933 AK093451 AK293028
RefSeq transcript (Entrez)NM_015114
Consensus coding sequences : CCDS (NCBI)ANKLE2
Gene ExpressionANKLE2 [ NCBI-GEO ]   ANKLE2 [ EBI - ARRAY_EXPRESS ]   ANKLE2 [ SEEK ]   ANKLE2 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKLE2 [ Firebrowse - Broad ]
GenevisibleExpression of ANKLE2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23141
GTEX Portal (Tissue expression)ANKLE2
Human Protein AtlasENSG00000176915-ANKLE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86XL3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86XL3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86XL3
PhosPhoSitePlusQ86XL3
Domaine pattern : Prosite (Expaxy)LEM (PS50954)   
Domains : Interpro (EBI)ANKLE2    Ankyrin_rpt-contain_sf    LEM/LEM-like_dom_sf    LEM_ANKL2    LEM_dom    RNase_H1_N    RNase_H1_N_sf   
Domain families : Pfam (Sanger)Cauli_VI (PF01693)    LEM (PF03020)   
Domain families : Pfam (NCBI)pfam01693    pfam03020   
Conserved Domain (NCBI)ANKLE2
SuperfamilyQ86XL3
AlphaFold pdb e-kbQ86XL3   
Human Protein Atlas [tissue]ENSG00000176915-ANKLE2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q86XL3
IntAct (EBI)Q86XL3
BioGRIDANKLE2
STRING (EMBL)ANKLE2
ZODIACANKLE2
Ontologies - Pathways
QuickGOQ86XL3
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  mitotic nuclear membrane reassembly  mitotic nuclear membrane reassembly  central nervous system development  membrane  protein phosphatase regulator activity  integral component of endoplasmic reticulum membrane  positive regulation of protein dephosphorylation  positive regulation of protein dephosphorylation  negative regulation of phosphorylation  negative regulation of phosphorylation  negative regulation of apoptotic process  regulation of phosphoprotein phosphatase activity  regulation of catalytic activity  cell division  protein phosphatase 2A binding  protein phosphatase 2A binding  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  mitotic nuclear membrane reassembly  mitotic nuclear membrane reassembly  central nervous system development  membrane  protein phosphatase regulator activity  integral component of endoplasmic reticulum membrane  positive regulation of protein dephosphorylation  positive regulation of protein dephosphorylation  negative regulation of phosphorylation  negative regulation of phosphorylation  negative regulation of apoptotic process  regulation of phosphoprotein phosphatase activity  regulation of catalytic activity  cell division  protein phosphatase 2A binding  protein phosphatase 2A binding  
NDEx NetworkANKLE2
Atlas of Cancer Signalling NetworkANKLE2
Wikipedia pathwaysANKLE2
Orthology - Evolution
OrthoDB23141
GeneTree (enSembl)ENSG00000176915
Phylogenetic Trees/Animal Genes : TreeFamANKLE2
Homologs : HomoloGeneANKLE2
Homology/Alignments : Family Browser (UCSC)ANKLE2
Gene fusions - Rearrangements
Fusion : QuiverANKLE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKLE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKLE2
dbVarANKLE2
ClinVarANKLE2
MonarchANKLE2
1000_GenomesANKLE2 
Exome Variant ServerANKLE2
GNOMAD BrowserENSG00000176915
Varsome BrowserANKLE2
ACMGANKLE2 variants
VarityQ86XL3
Genomic Variants (DGV)ANKLE2 [DGVbeta]
DECIPHERANKLE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKLE2 
Mutations
ICGC Data PortalANKLE2 
TCGA Data PortalANKLE2 
Broad Tumor PortalANKLE2
OASIS PortalANKLE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKLE2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DANKLE2
Mutations and Diseases : HGMDANKLE2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaANKLE2
DgiDB (Drug Gene Interaction Database)ANKLE2
DoCM (Curated mutations)ANKLE2
CIViC (Clinical Interpretations of Variants in Cancer)ANKLE2
Cancer3DANKLE2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616062    616681   
Orphanet
DisGeNETANKLE2
MedgenANKLE2
Genetic Testing Registry ANKLE2
NextProtQ86XL3 [Medical]
GENETestsANKLE2
Target ValidationANKLE2
Huge Navigator ANKLE2 [HugePedia]
ClinGenANKLE2
Clinical trials, drugs, therapy
MyCancerGenomeANKLE2
Protein Interactions : CTDANKLE2
Pharm GKB GenePA162376532
PharosQ86XL3
Clinical trialANKLE2
Miscellaneous
canSAR (ICR)ANKLE2
HarmonizomeANKLE2
DataMed IndexANKLE2
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXANKLE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 14:59:22 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.