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LRCH2 (leucine rich repeats and calponin homology domain containing 2)

Identity

Alias_namesleucine-rich repeats and calponin homology (CH) domain containing 2
Alias_symbol (synonym)KIAA1495
Other aliasdA204F4.4
HGNC (Hugo) LRCH2
LocusID (NCBI) 57631
Atlas_Id 68573
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 115110620 and ends at 115234072 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)

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)LRCH2   29292
Cards
Entrez_Gene (NCBI)LRCH2  57631  leucine rich repeats and calponin homology domain containing 2
AliasesdA204F4.4
GeneCards (Weizmann)LRCH2
Ensembl hg19 (Hinxton)ENSG00000130224 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130224 [Gene_View]  ENSG00000130224 [Sequence]  chrX:115110620-115234072 [Contig_View]  LRCH2 [Vega]
ICGC DataPortalENSG00000130224
TCGA cBioPortalLRCH2
AceView (NCBI)LRCH2
Genatlas (Paris)LRCH2
WikiGenes57631
SOURCE (Princeton)LRCH2
Genetics Home Reference (NIH)LRCH2
Genomic and cartography
GoldenPath hg38 (UCSC)LRCH2  -     chrX:115110620-115234072 -  Xq23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRCH2  -     Xq23   [Description]    (hg19-Feb_2009)
EnsemblLRCH2 - Xq23 [CytoView hg19]  LRCH2 - Xq23 [CytoView hg38]
Mapping of homologs : NCBILRCH2 [Mapview hg19]  LRCH2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB040928 AK022128 BC042004 BC125223 BC125224
RefSeq transcript (Entrez)NM_001243963 NM_020871
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRCH2
Cluster EST : UnigeneHs.65366 [ NCBI ]
CGAP (NCI)Hs.65366
Alternative Splicing GalleryENSG00000130224
Gene ExpressionLRCH2 [ NCBI-GEO ]   LRCH2 [ EBI - ARRAY_EXPRESS ]   LRCH2 [ SEEK ]   LRCH2 [ MEM ]
Gene Expression Viewer (FireBrowse)LRCH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57631
GTEX Portal (Tissue expression)LRCH2
Human Protein AtlasENSG00000130224-LRCH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VUJ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VUJ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VUJ6
Splice isoforms : SwissVarQ5VUJ6
PhosPhoSitePlusQ5VUJ6
Domaine pattern : Prosite (Expaxy)CH (PS50021)    LRR (PS51450)   
Domains : Interpro (EBI)CH-domain    L_dom-like    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp   
Domain families : Pfam (Sanger)CH (PF00307)    LRR_8 (PF13855)   
Domain families : Pfam (NCBI)pfam00307    pfam13855   
Domain families : Smart (EMBL)CH (SM00033)  LRR_TYP (SM00369)  
Conserved Domain (NCBI)LRCH2
DMDM Disease mutations57631
Blocks (Seattle)LRCH2
SuperfamilyQ5VUJ6
Human Protein Atlas [tissue]ENSG00000130224-LRCH2 [tissue]
Peptide AtlasQ5VUJ6
HPRD06602
IPIIPI00745038   IPI00843955   IPI01015065   
Protein Interaction databases
DIP (DOE-UCLA)Q5VUJ6
IntAct (EBI)Q5VUJ6
FunCoupENSG00000130224
BioGRIDLRCH2
STRING (EMBL)LRCH2
ZODIACLRCH2
Ontologies - Pathways
QuickGOQ5VUJ6
Ontology : AmiGOplasma membrane  signal transduction  
Ontology : EGO-EBIplasma membrane  signal transduction  
NDEx NetworkLRCH2
Atlas of Cancer Signalling NetworkLRCH2
Wikipedia pathwaysLRCH2
Orthology - Evolution
OrthoDB57631
GeneTree (enSembl)ENSG00000130224
Phylogenetic Trees/Animal Genes : TreeFamLRCH2
HOVERGENQ5VUJ6
HOGENOMQ5VUJ6
Homologs : HomoloGeneLRCH2
Homology/Alignments : Family Browser (UCSC)LRCH2
Gene fusions - Rearrangements
Fusion : QuiverLRCH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRCH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRCH2
dbVarLRCH2
ClinVarLRCH2
1000_GenomesLRCH2 
Exome Variant ServerLRCH2
ExAC (Exome Aggregation Consortium)ENSG00000130224
GNOMAD BrowserENSG00000130224
Varsome BrowserLRCH2
Genetic variants : HAPMAP57631
Genomic Variants (DGV)LRCH2 [DGVbeta]
DECIPHERLRCH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRCH2 
Mutations
ICGC Data PortalLRCH2 
TCGA Data PortalLRCH2 
Broad Tumor PortalLRCH2
OASIS PortalLRCH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRCH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRCH2
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch LRCH2
DgiDB (Drug Gene Interaction Database)LRCH2
DoCM (Curated mutations)LRCH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRCH2 (select a term)
intoGenLRCH2
Cancer3DLRCH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETLRCH2
MedgenLRCH2
Genetic Testing Registry LRCH2
NextProtQ5VUJ6 [Medical]
TSGene57631
GENETestsLRCH2
Target ValidationLRCH2
Huge Navigator LRCH2 [HugePedia]
snp3D : Map Gene to Disease57631
BioCentury BCIQLRCH2
ClinGenLRCH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57631
Chemical/Pharm GKB GenePA134890613
Clinical trialLRCH2
Miscellaneous
canSAR (ICR)LRCH2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRCH2
EVEXLRCH2
GoPubMedLRCH2
iHOPLRCH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:11:32 CEST 2018
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