Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CARMIL2 (capping protein regulator and myosin 1 linker 2)

Identity

Alias_namesRLTPR
RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing
Alias_symbol (synonym)LRRC16C
Other aliasCARMIL2b
IMD58
HGNC (Hugo) CARMIL2
LocusID (NCBI) 146206
Atlas_Id 78439
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67644940 and ends at 67657569 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)CARMIL2   27089
Cards
Entrez_Gene (NCBI)CARMIL2  146206  capping protein regulator and myosin 1 linker 2
AliasesCARMIL2b; IMD58; LRRC16C; RLTPR
GeneCards (Weizmann)CARMIL2
Ensembl hg19 (Hinxton)ENSG00000159753 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159753 [Gene_View]  ENSG00000159753 [Sequence]  chr16:67644940-67657569 [Contig_View]  CARMIL2 [Vega]
ICGC DataPortalENSG00000159753
TCGA cBioPortalCARMIL2
AceView (NCBI)CARMIL2
Genatlas (Paris)CARMIL2
WikiGenes146206
SOURCE (Princeton)CARMIL2
Genetics Home Reference (NIH)CARMIL2
Genomic and cartography
GoldenPath hg38 (UCSC)CARMIL2  -     chr16:67644940-67657569 +  16q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CARMIL2  -     16q22.1   [Description]    (hg19-Feb_2009)
GoldenPathCARMIL2 - 16q22.1 [CytoView hg19]  CARMIL2 - 16q22.1 [CytoView hg38]
ImmunoBaseENSG00000159753
Mapping of homologs : NCBICARMIL2 [Mapview hg19]  CARMIL2 [Mapview hg38]
OMIM610859   618131   
Gene and transcription
Genbank (Entrez)AB113647 AK090421 AL832446 BC043154 FJ026014
RefSeq transcript (Entrez)NM_001013838 NM_001317026
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CARMIL2
Alternative Splicing GalleryENSG00000159753
Gene ExpressionCARMIL2 [ NCBI-GEO ]   CARMIL2 [ EBI - ARRAY_EXPRESS ]   CARMIL2 [ SEEK ]   CARMIL2 [ MEM ]
Gene Expression Viewer (FireBrowse)CARMIL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146206
GTEX Portal (Tissue expression)CARMIL2
Human Protein AtlasENSG00000159753-CARMIL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6F5E8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6F5E8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6F5E8
Splice isoforms : SwissVarQ6F5E8
PhosPhoSitePlusQ6F5E8
Domains : Interpro (EBI)CARMIL2    CARMIL_C    CARMIL_PH    Leu-rich_rpt    PH-like_dom_sf   
Domain families : Pfam (Sanger)Carm_PH (PF17888)    CARMIL_C (PF16000)    LRR_6 (PF13516)   
Domain families : Pfam (NCBI)pfam17888    pfam16000    pfam13516   
Conserved Domain (NCBI)CARMIL2
DMDM Disease mutations146206
Blocks (Seattle)CARMIL2
SuperfamilyQ6F5E8
Human Protein Atlas [tissue]ENSG00000159753-CARMIL2 [tissue]
Peptide AtlasQ6F5E8
HPRD18556
IPIIPI00456628   IPI01015638   IPI00743882   IPI00168768   
Protein Interaction databases
DIP (DOE-UCLA)Q6F5E8
IntAct (EBI)Q6F5E8
FunCoupENSG00000159753
BioGRIDCARMIL2
STRING (EMBL)CARMIL2
ZODIACCARMIL2
Ontologies - Pathways
QuickGOQ6F5E8
Ontology : AmiGOruffle  phospholipid binding  cytoplasm  plasma membrane  establishment or maintenance of cell polarity  positive regulation of lamellipodium assembly  actin cytoskeleton  membrane  maintenance of cell polarity  lamellipodium  positive regulation of cell migration  extrinsic component of cytoplasmic side of plasma membrane  cell leading edge  wound healing, spreading of cells  macropinosome  protein-containing complex binding  intermediate filament cytoskeleton  actin filament network formation  establishment or maintenance of monopolar cell polarity  positive regulation of extracellular matrix disassembly  positive regulation of ruffle assembly  positive regulation of lamellipodium organization  negative regulation of barbed-end actin filament capping  
Ontology : EGO-EBIruffle  phospholipid binding  cytoplasm  plasma membrane  establishment or maintenance of cell polarity  positive regulation of lamellipodium assembly  actin cytoskeleton  membrane  maintenance of cell polarity  lamellipodium  positive regulation of cell migration  extrinsic component of cytoplasmic side of plasma membrane  cell leading edge  wound healing, spreading of cells  macropinosome  protein-containing complex binding  intermediate filament cytoskeleton  actin filament network formation  establishment or maintenance of monopolar cell polarity  positive regulation of extracellular matrix disassembly  positive regulation of ruffle assembly  positive regulation of lamellipodium organization  negative regulation of barbed-end actin filament capping  
NDEx NetworkCARMIL2
Atlas of Cancer Signalling NetworkCARMIL2
Wikipedia pathwaysCARMIL2
Orthology - Evolution
OrthoDB146206
GeneTree (enSembl)ENSG00000159753
Phylogenetic Trees/Animal Genes : TreeFamCARMIL2
HOGENOMQ6F5E8
Homologs : HomoloGeneCARMIL2
Homology/Alignments : Family Browser (UCSC)CARMIL2
Gene fusions - Rearrangements
Fusion : QuiverCARMIL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCARMIL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CARMIL2
dbVarCARMIL2
ClinVarCARMIL2
1000_GenomesCARMIL2 
Exome Variant ServerCARMIL2
ExAC (Exome Aggregation Consortium)ENSG00000159753
GNOMAD BrowserENSG00000159753
Varsome BrowserCARMIL2
Genetic variants : HAPMAP146206
Genomic Variants (DGV)CARMIL2 [DGVbeta]
DECIPHERCARMIL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCARMIL2 
Mutations
ICGC Data PortalCARMIL2 
TCGA Data PortalCARMIL2 
Broad Tumor PortalCARMIL2
OASIS PortalCARMIL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCARMIL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCARMIL2
Mutations and Diseases : HGMDCARMIL2
BioMutasearch CARMIL2
DgiDB (Drug Gene Interaction Database)CARMIL2
DoCM (Curated mutations)CARMIL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CARMIL2 (select a term)
intoGenCARMIL2
Cancer3DCARMIL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610859    618131   
Orphanet
DisGeNETCARMIL2
MedgenCARMIL2
Genetic Testing Registry CARMIL2
NextProtQ6F5E8 [Medical]
TSGene146206
GENETestsCARMIL2
Target ValidationCARMIL2
Huge Navigator CARMIL2 [HugePedia]
snp3D : Map Gene to Disease146206
BioCentury BCIQCARMIL2
ClinGenCARMIL2
Clinical trials, drugs, therapy
Protein Interactions : CTD146206
Pharm GKB GenePA162401371
Clinical trialCARMIL2
Miscellaneous
canSAR (ICR)CARMIL2 (select the gene name)
HarmonizomeCARMIL2
DataMed IndexCARMIL2
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARMIL2
EVEXCARMIL2
GoPubMedCARMIL2
iHOPCARMIL2
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 : Tue Jun 30 19:36:18 CEST 2020

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