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CARF (calcium responsive transcription factor)

Identity

Other aliasALS2CR8
NYD-SP24
HGNC (Hugo) CARF
LocusID (NCBI) 79800
Atlas_Id 57781
Location 2q33.2  [Link to chromosome band 2q33]
Location_base_pair Starts at 202912218 and ends at 202988261 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)
NBEAL1 (2q33.2) / CARF (2q33.2)

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)CARF   14435
Cards
Entrez_Gene (NCBI)CARF  79800  calcium responsive transcription factor
AliasesALS2CR8; NYD-SP24
GeneCards (Weizmann)CARF
Ensembl hg19 (Hinxton)ENSG00000138380 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138380 [Gene_View]  ENSG00000138380 [Sequence]  chr2:202912218-202988261 [Contig_View]  CARF [Vega]
ICGC DataPortalENSG00000138380
TCGA cBioPortalCARF
AceView (NCBI)CARF
Genatlas (Paris)CARF
WikiGenes79800
SOURCE (Princeton)CARF
Genetics Home Reference (NIH)CARF
Genomic and cartography
GoldenPath hg38 (UCSC)CARF  -     chr2:202912218-202988261 +  2q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CARF  -     2q33.2   [Description]    (hg19-Feb_2009)
GoldenPathCARF - 2q33.2 [CytoView hg19]  CARF - 2q33.2 [CytoView hg38]
ImmunoBaseENSG00000138380
Mapping of homologs : NCBICARF [Mapview hg19]  CARF [Mapview hg38]
OMIM607586   
Gene and transcription
Genbank (Entrez)AB053309 AB053310 AF454946 AK022737 AK025232
RefSeq transcript (Entrez)NM_001104586 NM_001282910 NM_001282911 NM_001282912 NM_001322427 NM_001322428 NM_001322429 NM_001322430 NM_001352676 NM_001352677 NM_001352678 NM_001352679 NM_024744
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CARF
Cluster EST : UnigeneHs.444982 [ NCBI ]
CGAP (NCI)Hs.444982
Alternative Splicing GalleryENSG00000138380
Gene ExpressionCARF [ NCBI-GEO ]   CARF [ EBI - ARRAY_EXPRESS ]   CARF [ SEEK ]   CARF [ MEM ]
Gene Expression Viewer (FireBrowse)CARF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79800
GTEX Portal (Tissue expression)CARF
Human Protein AtlasENSG00000138380-CARF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N187   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N187  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N187
Splice isoforms : SwissVarQ8N187
PhosPhoSitePlusQ8N187
Domains : Interpro (EBI)CaRF   
Domain families : Pfam (Sanger)ALS2CR8 (PF15299)   
Domain families : Pfam (NCBI)pfam15299   
Conserved Domain (NCBI)CARF
DMDM Disease mutations79800
Blocks (Seattle)CARF
SuperfamilyQ8N187
Human Protein Atlas [tissue]ENSG00000138380-CARF [tissue]
Peptide AtlasQ8N187
IPIIPI00295701   IPI00658105   IPI00925234   IPI00910073   IPI00924913   IPI00924961   IPI00925293   IPI00925625   IPI00925790   IPI00925983   IPI00927013   IPI00926345   IPI00927470   IPI00926805   IPI00927848   IPI00924830   
Protein Interaction databases
DIP (DOE-UCLA)Q8N187
IntAct (EBI)Q8N187
FunCoupENSG00000138380
BioGRIDCARF
STRING (EMBL)CARF
ZODIACCARF
Ontologies - Pathways
QuickGOQ8N187
Ontology : AmiGORNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  DNA binding  DNA-binding transcription factor activity  nucleus  nucleus  nucleoplasm  nucleolus  cellular response to potassium ion  cellular response to potassium ion  positive regulation of transcription from RNA polymerase II promoter in response to calcium ion  positive regulation of transcription from RNA polymerase II promoter in response to calcium ion  cellular response to calcium ion  
Ontology : EGO-EBIRNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA binding  DNA binding  DNA-binding transcription factor activity  nucleus  nucleus  nucleoplasm  nucleolus  cellular response to potassium ion  cellular response to potassium ion  positive regulation of transcription from RNA polymerase II promoter in response to calcium ion  positive regulation of transcription from RNA polymerase II promoter in response to calcium ion  cellular response to calcium ion  
NDEx NetworkCARF
Atlas of Cancer Signalling NetworkCARF
Wikipedia pathwaysCARF
Orthology - Evolution
OrthoDB79800
GeneTree (enSembl)ENSG00000138380
Phylogenetic Trees/Animal Genes : TreeFamCARF
HOGENOMQ8N187
Homologs : HomoloGeneCARF
Homology/Alignments : Family Browser (UCSC)CARF
Gene fusions - Rearrangements
Fusion : QuiverCARF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCARF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CARF
dbVarCARF
ClinVarCARF
1000_GenomesCARF 
Exome Variant ServerCARF
ExAC (Exome Aggregation Consortium)ENSG00000138380
GNOMAD BrowserENSG00000138380
Varsome BrowserCARF
Genetic variants : HAPMAP79800
Genomic Variants (DGV)CARF [DGVbeta]
DECIPHERCARF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCARF 
Mutations
ICGC Data PortalCARF 
TCGA Data PortalCARF 
Broad Tumor PortalCARF
OASIS PortalCARF [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCARF
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 CARF
DgiDB (Drug Gene Interaction Database)CARF
DoCM (Curated mutations)CARF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CARF (select a term)
intoGenCARF
Cancer3DCARF(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607586   
Orphanet
DisGeNETCARF
MedgenCARF
Genetic Testing Registry CARF
NextProtQ8N187 [Medical]
TSGene79800
GENETestsCARF
Target ValidationCARF
Huge Navigator CARF [HugePedia]
snp3D : Map Gene to Disease79800
BioCentury BCIQCARF
ClinGenCARF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79800
Chemical/Pharm GKB GenePA24748
Clinical trialCARF
Miscellaneous
canSAR (ICR)CARF (select the gene name)
DataMed IndexCARF
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARF
EVEXCARF
GoPubMedCARF
iHOPCARF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 12 15:27:14 CEST 2019

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