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

NSMAF (neutral sphingomyelinase activation associated factor)

Identity

Alias (NCBI)FAN
GRAMD5
HGNC (Hugo) NSMAF
HGNC Alias symbFAN
GRAMD5
HGNC Previous nameneutral sphingomyelinase (N-SMase) activation associated factor
LocusID (NCBI) 8439
Atlas_Id 55482
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 58583509 and ends at 58659853 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)
NSMAF (8q12.1) / CLVS1 (8q12.3)NSMAF (8q12.1) / DEPTOR (8q24.12)NSMAF (8q12.1) / LETM2 (8p11.23)
NSMAF (8q12.1) / UQCRH (1p34.1)

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)NSMAF   8017
Cards
Entrez_Gene (NCBI)NSMAF    neutral sphingomyelinase activation associated factor
AliasesFAN; GRAMD5
GeneCards (Weizmann)NSMAF
Ensembl hg19 (Hinxton)ENSG00000035681 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000035681 [Gene_View]  ENSG00000035681 [Sequence]  chr8:58583509-58659853 [Contig_View]  NSMAF [Vega]
ICGC DataPortalENSG00000035681
TCGA cBioPortalNSMAF
AceView (NCBI)NSMAF
Genatlas (Paris)NSMAF
SOURCE (Princeton)NSMAF
Genetics Home Reference (NIH)NSMAF
Genomic and cartography
GoldenPath hg38 (UCSC)NSMAF  -     chr8:58583509-58659853 -  8q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NSMAF  -     8q12.1   [Description]    (hg19-Feb_2009)
GoldenPathNSMAF - 8q12.1 [CytoView hg19]  NSMAF - 8q12.1 [CytoView hg38]
ImmunoBaseENSG00000035681
Genome Data Viewer NCBINSMAF [Mapview hg19]  
OMIM603043   
Gene and transcription
Genbank (Entrez)AK292679 AK294009 AK313991 BC041124 DR005814
RefSeq transcript (Entrez)NM_001144772 NM_003580
Consensus coding sequences : CCDS (NCBI)NSMAF
Gene ExpressionNSMAF [ NCBI-GEO ]   NSMAF [ EBI - ARRAY_EXPRESS ]   NSMAF [ SEEK ]   NSMAF [ MEM ]
Gene Expression Viewer (FireBrowse)NSMAF [ Firebrowse - Broad ]
GenevisibleExpression of NSMAF in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8439
GTEX Portal (Tissue expression)NSMAF
Human Protein AtlasENSG00000035681-NSMAF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92636   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92636  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92636
PhosPhoSitePlusQ92636
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)BEACH_dom    BEACH_dom_sf    GRAM    PH-BEACH_dom    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Beach (PF02138)    GRAM (PF02893)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam02138    pfam02893    pfam00400   
Domain families : Smart (EMBL)Beach (SM01026)  GRAM (SM00568)  WD40 (SM00320)  
Conserved Domain (NCBI)NSMAF
SuperfamilyQ92636
AlphaFold pdb e-kbQ92636   
Human Protein Atlas [tissue]ENSG00000035681-NSMAF [tissue]
HPRD09117
Protein Interaction databases
DIP (DOE-UCLA)Q92636
IntAct (EBI)Q92636
BioGRIDNSMAF
STRING (EMBL)NSMAF
ZODIACNSMAF
Ontologies - Pathways
QuickGOQ92636
Ontology : AmiGOprotein binding  cytoplasm  cytosol  ceramide metabolic process  signal transduction  sphingomyelin phosphodiesterase activator activity  positive regulation of apoptotic process  positive regulation of ceramide biosynthetic process  
Ontology : EGO-EBIprotein binding  cytoplasm  cytosol  ceramide metabolic process  signal transduction  sphingomyelin phosphodiesterase activator activity  positive regulation of apoptotic process  positive regulation of ceramide biosynthetic process  
Pathways : BIOCARTACeramide Signaling Pathway [Genes]   
NDEx NetworkNSMAF
Atlas of Cancer Signalling NetworkNSMAF
Wikipedia pathwaysNSMAF
Orthology - Evolution
OrthoDB8439
GeneTree (enSembl)ENSG00000035681
Phylogenetic Trees/Animal Genes : TreeFamNSMAF
Homologs : HomoloGeneNSMAF
Homology/Alignments : Family Browser (UCSC)NSMAF
Gene fusions - Rearrangements
Fusion : QuiverNSMAF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNSMAF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NSMAF
dbVarNSMAF
ClinVarNSMAF
MonarchNSMAF
1000_GenomesNSMAF 
Exome Variant ServerNSMAF
GNOMAD BrowserENSG00000035681
Varsome BrowserNSMAF
ACMGNSMAF variants
VarityQ92636
Genomic Variants (DGV)NSMAF [DGVbeta]
DECIPHERNSMAF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNSMAF 
Mutations
ICGC Data PortalNSMAF 
TCGA Data PortalNSMAF 
Broad Tumor PortalNSMAF
OASIS PortalNSMAF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNSMAF  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNSMAF
Mutations and Diseases : HGMDNSMAF
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNSMAF
DgiDB (Drug Gene Interaction Database)NSMAF
DoCM (Curated mutations)NSMAF
CIViC (Clinical Interpretations of Variants in Cancer)NSMAF
Cancer3DNSMAF
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603043   
Orphanet
DisGeNETNSMAF
MedgenNSMAF
Genetic Testing Registry NSMAF
NextProtQ92636 [Medical]
GENETestsNSMAF
Target ValidationNSMAF
Huge Navigator NSMAF [HugePedia]
ClinGenNSMAF
Clinical trials, drugs, therapy
MyCancerGenomeNSMAF
Protein Interactions : CTDNSMAF
Pharm GKB GenePA31795
PharosQ92636
Clinical trialNSMAF
Miscellaneous
canSAR (ICR)NSMAF
HarmonizomeNSMAF
DataMed IndexNSMAF
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNSMAF
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 15:23:22 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.