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NSMAF Gene

protein-coding   GIFtS: 59
GCID: GC08M059496

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

  See NSMAF-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 8p11 myeloproliferative syndrome. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   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 Chromatin IP Primers for NSMAF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Ubiquitination2 at Lys467
  • Modification sites at PhosphoSitePlus

  • See NSMAF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000038176   ENSP00000411012   ENSP00000430195   ENSP00000430982  

    NSMAF Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for NSMAF 

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    ThermoFisher Antibodies for NSMAF
    LSBio Antibodies in human, mouse, rat for NSMAF

    NSMAF Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for NSMAF
    Cloud-Clone Corp. CLIAs for NSMAF
    Search eBioscience for ELISAs for NSMAF 


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

    Selected 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


    Find genes that share domains with NSMAF           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity TAS8808629
    GO:0005515protein binding IPI17599063
    GO:0016230sphingomyelin phosphodiesterase activator activity IEA--
         
    Find genes that share ontologies with NSMAF           About GenesLikeMe


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

    Find genes that share phenotypes with NSMAF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nsmaftm1Mkr for NSMAF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NSMAF
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NSMAF

    miRNA
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    miRTarBase miRNAs that target NSMAF:
    hsa-mir-92a-3p (MIRT049421), hsa-mir-25-3p (MIRT050349), hsa-mir-26b-5p (MIRT028876), hsa-mir-124-3p (MIRT022284)

    Block miRNA regulation of human, mouse, rat NSMAF using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat NSMAF

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NSMAF (NM_001144772)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSMAF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMAF

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NSMAF 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMAF


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    golgi apparatus2
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8808629

    Find genes that share ontologies with NSMAF           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NSMAF About    
    See pathways by source

    SuperPathContained pathways About
    1Ceramide Pathway
    Ceramide Pathway0.32
    TNF-Induced Apoptosis Implicating Sphingolipids0.32
    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 GeneGlobe 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


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NSMAF
    Interactions:

        GeneGlobe Interaction Network for NSMAF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NSMAF (Q926361, 2, 3 ENSP000004110124) via UniProtKB, MINT, STRING, and/or I2D (see all 416)
    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): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006672ceramide metabolic process TAS8808629
    GO:0007165signal transduction TAS8808629
    GO:0035556intracellular signal transduction TAS8808629
    GO:0043065positive regulation of apoptotic process IEA--

    Find genes that share ontologies with NSMAF           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NSMAF (FAN)

    Selected 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)



    Find genes that share compounds with NSMAF           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat NSMAF using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for NSMAF
    Predesigned siRNA for gene silencing in human, mouse, rat NSMAF
    Clone
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    OriGene ORF clones in mouse, rat for NSMAF
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    GenScript: all cDNA clones in your preferred vector (see all 2): NSMAF (NM_001144772)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMAF
    Primer
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    OriGene qPCR primer pairs and template standards for NSMAF
    OriGene qSTAR qPCR primer pairs in human, mouse for NSMAF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NSMAF
      QuantiTect SYBR Green Assays in human, mouse, rat NSMAF
      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 

    Selected AceView cDNA sequences (see all 208):

    AA598854 BQ221489 BQ272157 AW243695 W93092 AI342944 N57015 AI016533 
    CA405562 BF001827 BQ017985 CR610080 BX480511 BQ012334 BE467642 BQ013486 
    H47398 AI342547 AI201797 BU509152 BQ011305 BU190062 BQ228188 BQ012198 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NSMAF expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Thalamus
    NSMAF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSMAF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372000

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

        Custom PCR Arrays for NSMAF
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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

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

    Orthologs for NSMAF gene from Selected species (see all 14)    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_003640839.2  XP_003640887.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSMAF6
    neutral sphingomyelinase (N-SMase) activation asso...
    77(a)
    1 ↔ 1
    4(27665791-27696501)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nsmaf1 neutral sphingomyelinase (N-SMase) activation associated more 70.56(n)
    73.56(a)
      100158560  NM_001127992.1  NP_001121464.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nsmaf1 neutral sphingomyelinase (N-SMase) activation associated more 67.78(n)
    71.41(a)
      550506  XM_003199002.2  XP_003199050.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0004291 AgaP_AGAP000429 47.6(n)
    41.5(a)
      1271816  XM_310670.5  XP_310670.5 
    worm
    (Caenorhabditis elegans)
    Secernentea T01H10.86
    Protein T01H10.8 (T01H10.8) mRNA, complete cds
    6(a)
    many ↔ many
    X(12128143-12141151) WBGene00011361
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BPH16
    PProtein homologous to human Chediak-Higashi syndr...
    11(a)
    1 → many
    III(179520-186023) YCR032W


    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)
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    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

    Find genes that share paralogs with NSMAF           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NSMAF (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
    ----------
    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
    rs1826299911,2
    --59496519(+) TCACCA/GTGATT 2 -- ut310--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSMAF
    DNA2.0 Custom Variant and Variant Library Synthesis for NSMAF

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

    1 disease for NSMAF:    
    About MalaCards
    8p11 myeloproliferative syndrome


    Find genes that share disorders with NSMAF           About GenesLikeMe

    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)
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    PubMed articles for NSMAF gene, integrated from 10 sources (see all 22):
    (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. (Cell 1996)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Assignment of the human FAN protein gene (NSMAF) to human chromosome region 8q12--&gt;q13 by in situ hybridization. (PubMed id 10640829)1, 3 Zhang Y....Schlegelberger B. (Cytogenet. Cell Genet. 1999)
    4. CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. (PubMed id 10601289)1, 9 SAcgui B....Levade T. (J. Biol. Chem. 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....KrAPnke M. (J. Leukoc. Biol. 1998)
    6. SH3RF2 functions as an oncogene by mediating PAK4 protein stability. (PubMed id 24130170)1 Kim T.W....Park K.C. (Carcinogenesis 2014)
    7. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (Nature 2010)
    10. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 8439 HGNC: 8017 AceView: NSMAF Ensembl:ENSG00000035681 euGenes: HUgn8439
    ECgene: NSMAF H-InvDB: NSMAF

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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