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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NSMAF Gene

protein-coding   GIFtS: 58
GCID: GC08M059496

Neutral Sphingomyelinase (N-SMase) Activation Associated...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Neutral Sphingomyelinase (N-SMase) Activation Associated Factor1 2
FAN2 3 5
Factor Associated With N-SMase Activation2 3
Factor Associated With Neutral Sphingomyelinase Activation2 3
Protein FAN2

External Ids:    HGNC: 80171   Entrez Gene: 84392   Ensembl: ENSG000000356817   OMIM: 6030435   UniProtKB: Q926363   

Export aliases for NSMAF gene to outside databases

Previous GC identifers: GC08M058569 GC08M059435 GC08M059219 GC08M059546 GC08M059658 GC08M054983


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NSMAF Gene:
This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD
tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase
and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing
results in multiple transcript variants.(provided by RefSeq, Jan 2009)

GeneCards Summary for NSMAF Gene: 
NSMAF (neutral sphingomyelinase (N-SMase) activation associated factor) is a protein-coding gene. Diseases associated with NSMAF include posterior scleritis, and scleritis, and among its related super-pathways are Ceramide Pathway. GO annotations related to this gene include protein binding and receptor signaling protein activity. An important paralog of this gene is LYST.

UniProtKB/Swiss-Prot: FAN_HUMAN, Q92636
Function: Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds
to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSMAF gene promoter:
         POU2F2 (Oct-2.1)   POU2F2C   Oct-B1   POU2F1a   POU2F2B   POU2F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSMAF promoter sequence
   Search SABiosciences Chromatin IP Primers for NSMAF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSMAF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q12-q13   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12-q13

NSMAF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSMAF gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M059496:  view genomic region     (about GC identifiers)

Start:
59,496,063 bp from pter      End:
59,572,404 bp from pter
Size:
76,342 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FAN_HUMAN, Q92636 (See protein sequence)
Recommended Name: Protein FAN  
Size: 917 amino acids; 104372 Da
Secondary accessions: B4DFB0 E9PCH0 Q8IW26
Alternative splicing: 2 isoforms:  Q92636-1   Q92636-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSMAF: NX_Q92636

Explore proteomics data for NSMAF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92636

  • NSMAF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NSMAF Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001138244.1  NP_003571.2  

    ENSEMBL proteins: 
     ENSP00000038176   ENSP00000411012   ENSP00000430195   ENSP00000430982  

    Human Recombinant Protein Products for NSMAF: 
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    Novus Biologicals NSMAF Protein
    Novus Biologicals NSMAF Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSMAF 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8808629

    NSMAF for ontologies           About GeneDecksing



    NSMAF Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NSMAF 

    Assay Products for NSMAF: 
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    Cloud-Clone Corp. ELISAs for NSMAF 
    Cloud-Clone Corp. CLIAs for NSMAF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR000409 BEACH_dom
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR004182 GRAM
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q92636

    ProtoNet protein and cluster: Q92636

    3 Blocks protein domains:
    IPB000409 Beige/BEACH domain
    IPB001680 G-protein beta WD-40 repeat signature
    IPB004182 GRAM domain


    UniProtKB/Swiss-Prot: FAN_HUMAN, Q92636
    Similarity: Contains 1 BEACH domain
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 6 WD repeats


    NSMAF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FAN_HUMAN, Q92636
    Function: Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds
    to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE

         Genatlas biochemistry entry for NSMAF:
    neutral sphingomyelinase (N-Smase) activation factor,activated by TNFRSF1A,interacting signal transduction events
    that induce inflammatory and proliferative responses to TNF stimulation,LYST and mouse beige homolog

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity TAS8808629
    GO:0005515protein binding IPI17599063
         
    NSMAF for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nsmaf):
     hematopoietic system  homeostasis/metabolism  immune system  integument 

    NSMAF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nsmaftm1Mkr for NSMAF

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NSMAF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NSMAF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NSMAF 
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    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate NSMAF (see all 15):
    hsa-miR-299-5p hsa-miR-224 hsa-miR-92a hsa-miR-561 hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidNSMAF 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMAF


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NSMAF About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF-Induced Apoptosis Implicating Sphingolipids
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    Ceramide Pathway0.32
    2TNF receptor signaling pathway
    TNF receptor signaling pathway
    3TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NSMAF
        Ceramide Pathway
    TNF-Induced Apoptosis Implicating Sphingolipids

    2 BioSystems Pathways for NSMAF
        TNF-alpha/NF-kB Signaling Pathway
    TNF receptor signaling pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NSMAF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/414 Interacting proteins for NSMAF (Q926361, 2, 3 ENSP000004110124) via UniProtKB, MINT, STRING, and/or I2D (see all 414)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006672ceramide metabolic process TAS8808629
    GO:0007165signal transduction TAS8808629

    NSMAF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NSMAF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NSMAF (FAN)

    10/35 HMDB Compounds for NSMAF (see all 35)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cer(d18:0/12:0) ----
    Cer(d18:0/14:0) ----
    Cer(d18:0/16:0) ----
    Cer(d18:0/18:0) ----
    Cer(d18:0/18:1(11Z)) ----
    Cer(d18:0/18:1(9Z)) ----
    Cer(d18:0/20:0) ----
    Cer(d18:0/22:0) ----
    Cer(d18:0/22:1(13Z)) ----
    Cer(d18:0/23:0) ----

    1 Novoseek inferred chemical compound relationship for NSMAF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 65.7 2 10601289 (1), 20166926 (1)

    Search CenterWatch for drugs/clinical trials and news about NSMAF / FAN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NSMAF gene (2 alternative transcripts): 
    NM_001144772.1  NM_003580.3  

    Unigene Cluster for NSMAF:

    Neutral sphingomyelinase (N-SMase) activation associated factor
    Hs.372000  [show with all ESTs]
    Unigene Representative Sequence: NM_003580
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000038176(uc011lee.2 uc003xtt.3) ENST00000427130 ENST00000521972
    ENST00000517612 ENST00000521712 ENST00000523177 ENST00000519166 ENST00000524148
    ENST00000523106 ENST00000519174 ENST00000523982 ENST00000519227 ENST00000519858
    ENST00000518229 ENST00000518159 ENST00000522645 ENST00000519871
    miRNA
    Products:
         
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate NSMAF (see all 15):
    hsa-miR-299-5p hsa-miR-224 hsa-miR-92a hsa-miR-561 hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidNSMAF 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMAF
    Sirion Biotech Customized lentivirus for stable overexpression of NSMAF 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSMAF
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMAF

    Additional mRNA sequence: 

    AK022025.1 AK092144.1 AK292679.1 AK294009.1 AK313991.1 BC041124.1 X96586.1 

    19 DOTS entries:

    DT.454528  DT.95256207  DT.100788261  DT.318011  DT.100788264  DT.205332  DT.100704902  DT.433384 
    DT.95256206  DT.121486812  DT.318013  DT.121486910  DT.70103821  DT.86847507  DT.121486904  DT.100764213 
    DT.121486810  DT.121486930  DT.92435128 

    24/208 AceView cDNA sequences (see all 208):

    BQ221489 W93092 AI342944 BQ272157 AW243695 N57015 AI016533 CA405562 
    BF001827 BQ017985 CR610080 BX480511 BQ012334 BE467642 BQ013486 H47398 
    AI342547 AI201797 BU509152 BQ011305 BU190062 BQ228188 BQ012198 BU753986 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NSMAF (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:        -                                                                                                                 -                             -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24b ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b
    SP1:  -                             -                                                   
    SP2:                                                                                    
    SP3:  -                                                                                 
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for NSMAF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NSMAF expression in normal human tissues (normalized intensities)      NSMAF embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NSMAF Expression
    About this image


    NSMAF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Respiratory System)    fully expand to see all 5 entries
             bone marrow cd34+   
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Eye (Sensory Organs)
             retinal progenitor cell p0   
     
     Brain (Nervous System)
             Thalamus

    See NSMAF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSMAF

    SOURCE GeneReport for Unigene cluster: Hs.372000

    UniProtKB/Swiss-Prot: FAN_HUMAN, Q92636
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMAF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NSMAF gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsmaf1 , 5 neutral sphingomyelinase (N-SMase) activation associated more1, 5 87.71(n)1
    92.04(a)1
      4 (2.91 cM)5
    182011  NM_010945.21  NP_035075.21 
     63962075 
    chicken
    (Gallus gallus)
    Aves NSMAF1 neutral sphingomyelinase (N-SMase) activation associated more 75.9(n)
    79.52(a)
      421137  XM_003640839.1  XP_003640887.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSMAF6
    neutral sphingomyelinase (N-SMase) activation asso...
    77(a)
    1 ↔ 1
    4(27665791-27696501)
    zebrafish
    (Danio rerio)
    Actinopterygii nsmaf1 neutral sphingomyelinase (N-SMase) activation associated more 67.8(n)
    71.37(a)
      550506  XM_003199002.1  XP_003199050.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0004291 AGAP000429-PA 47.39(n)
    41.33(a)
      1271816  XM_310670.4  XP_310670.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BPH16
    PProtein homologous to human Chediak-Higashi syndr...
    10(a)
    1 → many
    III(179520-186023)


    ENSEMBL Gene Tree for NSMAF (if available)
    TreeFam Gene Tree for NSMAF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSMAF gene
    LYST2  NBEAL12  WDFY42  LRBA2  NBEA2  WDFY32  NBEAL22  
    1 SIMAP similar gene for NSMAF using alignment to 3 protein entries:     FAN_HUMAN (see all proteins):
    POC1B

    NSMAF for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NSMAF
    PGOHUM00000241328


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1740 SNPs in NSMAF are shown (see all 1740)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0470244
    ----see VAR_0470242 R T mis40--------
    rs37393271,2
    C,F,A,H--59496052(+) ATAAAA/GTGAAA 2 -- ds500117Minor allele frequency- G:0.50NS EA NA CSA WA 2329
    rs1438120391,2
    --59496124(+) CAAACC/GGTTCC 2 -- ut310--------
    rs1472547351,2
    --59496125(+) AAACCA/GTTCCT 2 -- ut310--------
    rs1407308661,2
    --59496156(+) GAACTA/GCTAAT 2 -- ut310--------
    rs764337211,2
    C,F--59496376(+) TAGCTA/CTTCTC 2 -- ut311Minor allele frequency- C:0.05WA 118
    rs10505041,2
    C,F,O,H--59496416(-) TCCCCG/ATATGA 2 -- ut31 ese322Minor allele frequency- A:0.22MN NA NS EA CSA WA 2663
    rs2015402641,2
    C--59496460(+) CTAACA/CCAGCC 2 -- ut310--------
    rs1446938531,2
    --59496466(+) CAGCCA/GCATTT 2 -- ut310--------
    rs10504881,2
    C,F,O,H--59496490(-) GTTGCT/CATTCT 2 -- ut31 ese328Minor allele frequency- C:0.26MN NA NS EA CSA WA 3077

    HapMap Linkage Disequilibrium report for NSMAF (59496063 - 59572404 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NSMAF:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv271778CNV Insertion20981092
    nsv397168CNV Loss16902084
    nsv831325CNV Gain17160897
    nsv890939CNV Gain21882294
    nsv890938CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603043    OMIM disorders: --

    3 diseases for NSMAF:    About MalaCards
    posterior scleritis    scleritis    chediak-higashi syndrome


    NSMAF for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for NSMAF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 33 2 10601289 (1), 10187805 (1)
    tumors 11 2 10601289 (1), 10187805 (1)

    Genetic Association Database (GAD): NSMAF
    Human Genome Epidemiology (HuGE) Navigator: NSMAF (3 documents)

    Export disorders for NSMAF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NSMAF gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with NSMAF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. (PubMed id 8808629)1, 2, 3 Adam-Klages S.... Kroenke M. (1996)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Assignment of the human FAN protein gene (NSMAF) to human chromosome region 8q12-->q13 by in situ hybridization. (PubMed id 10640829)1, 3 Zhang Y....Schlegelberger B. (1999)
    4. CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. (PubMed id 10601289)1, 9 Segui B....Levade T. (1999)
    5. Distinct adapter proteins mediate acid versus neutral sphingomyelinase activation through the p55 receptor for tumor necrosis factor. (PubMed id 9620659)1, 9 Adam-Klages S....Kronke M. (1998)
    6. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    9. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    10. Regulation of neutral sphingomyelinase-2 (nSMase2) by tumor necrosis factor-alpha involves protein kinase C-delta in lung epithelial cells. (PubMed id 18653803)1 Clarke C.J....Hannun Y.A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8439 HGNC: 8017 AceView: NSMAF Ensembl:ENSG00000035681 euGenes: HUgn8439
    ECgene: NSMAF H-InvDB: NSMAF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NSMAF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NSMAF Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NSMAF gene:
    Search GeneIP for patents involving NSMAF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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