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ANKLE2 (ankyrin repeat and LEM domain containing 2)

Identity

Alias_namesKIAA0692
KIAA0692
Alias_symbol (synonym)LEMD7
Lem4
Other aliasMCPH16
HGNC (Hugo) ANKLE2
LocusID (NCBI) 23141
Atlas_Id 60306
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 132725667 and ends at 132761888 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)
ANKLE2 NHP2L1ANKLE2 NCOR2

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  23141  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]  chr12:132725667-132761888 [Contig_View]  ANKLE2 [Vega]
ICGC DataPortalENSG00000176915
TCGA cBioPortalANKLE2
AceView (NCBI)ANKLE2
Genatlas (Paris)ANKLE2
WikiGenes23141
SOURCE (Princeton)ANKLE2
Genetics Home Reference (NIH)ANKLE2
Genomic and cartography
GoldenPath hg38 (UCSC)ANKLE2  -     chr12:132725667-132761888 -  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKLE2  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblANKLE2 - 12q24.33 [CytoView hg19]  ANKLE2 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIANKLE2 [Mapview hg19]  ANKLE2 [Mapview hg38]
OMIM616062   616681   
Gene and transcription
Genbank (Entrez)AB014592 AK024061 AK025933 AK093451 AK293028
RefSeq transcript (Entrez)NM_015114
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKLE2
Cluster EST : UnigeneHs.654628 [ NCBI ]
CGAP (NCI)Hs.654628
Alternative Splicing GalleryENSG00000176915
Gene ExpressionANKLE2 [ NCBI-GEO ]   ANKLE2 [ EBI - ARRAY_EXPRESS ]   ANKLE2 [ SEEK ]   ANKLE2 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKLE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ86XL3
PhosPhoSitePlusQ86XL3
Domaine pattern : Prosite (Expaxy)LEM (PS50954)   
Domains : Interpro (EBI)Ankyrin_rpt-contain_dom    LEM/LEM-like_dom    LEM_dom    RNase_H1_N   
Domain families : Pfam (Sanger)Cauli_VI (PF01693)    LEM (PF03020)   
Domain families : Pfam (NCBI)pfam01693    pfam03020   
Conserved Domain (NCBI)ANKLE2
DMDM Disease mutations23141
Blocks (Seattle)ANKLE2
SuperfamilyQ86XL3
Human Protein Atlas [tissue]ENSG00000176915-ANKLE2 [tissue]
Peptide AtlasQ86XL3
IPIIPI00829741   IPI00329245   IPI01011146   IPI00793681   IPI01009253   IPI01009737   IPI00791411   
Protein Interaction databases
DIP (DOE-UCLA)Q86XL3
IntAct (EBI)Q86XL3
FunCoupENSG00000176915
BioGRIDANKLE2
STRING (EMBL)ANKLE2
ZODIACANKLE2
Ontologies - Pathways
QuickGOQ86XL3
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  mitotic nuclear envelope reassembly  mitotic nuclear envelope reassembly  central nervous system development  membrane  protein phosphatase regulator activity  integral component of endoplasmic reticulum membrane  positive regulation of protein dephosphorylation  negative regulation of phosphorylation  negative regulation of apoptotic process  regulation of catalytic activity  cell division  protein phosphatase 2A binding  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  mitotic nuclear envelope reassembly  mitotic nuclear envelope reassembly  central nervous system development  membrane  protein phosphatase regulator activity  integral component of endoplasmic reticulum membrane  positive regulation of protein dephosphorylation  negative regulation of phosphorylation  negative regulation of apoptotic process  regulation of catalytic activity  cell division  protein phosphatase 2A binding  
NDEx NetworkANKLE2
Atlas of Cancer Signalling NetworkANKLE2
Wikipedia pathwaysANKLE2
Orthology - Evolution
OrthoDB23141
GeneTree (enSembl)ENSG00000176915
Phylogenetic Trees/Animal Genes : TreeFamANKLE2
HOVERGENQ86XL3
HOGENOMQ86XL3
Homologs : HomoloGeneANKLE2
Homology/Alignments : Family Browser (UCSC)ANKLE2
Gene fusions - Rearrangements
Fusion: TCGA_MDACCANKLE2 NHP2L1
Fusion: TCGA_MDACCANKLE2 NCOR2
Tumor Fusion PortalANKLE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKLE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKLE2
dbVarANKLE2
ClinVarANKLE2
1000_GenomesANKLE2 
Exome Variant ServerANKLE2
ExAC (Exome Aggregation Consortium)ENSG00000176915
GNOMAD BrowserENSG00000176915
Genetic variants : HAPMAP23141
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]  
Mutations and Diseases : HGMDANKLE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ANKLE2
DgiDB (Drug Gene Interaction Database)ANKLE2
DoCM (Curated mutations)ANKLE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKLE2 (select a term)
intoGenANKLE2
Cancer3DANKLE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616062    616681   
Orphanet732   
DisGeNETANKLE2
MedgenANKLE2
Genetic Testing Registry ANKLE2
NextProtQ86XL3 [Medical]
TSGene23141
GENETestsANKLE2
Target ValidationANKLE2
Huge Navigator ANKLE2 [HugePedia]
snp3D : Map Gene to Disease23141
BioCentury BCIQANKLE2
ClinGenANKLE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23141
Chemical/Pharm GKB GenePA162376532
Clinical trialANKLE2
Miscellaneous
canSAR (ICR)ANKLE2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKLE2
EVEXANKLE2
GoPubMedANKLE2
iHOPANKLE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:25:45 CET 2017

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