Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NSMAF Gene

Aliases for NSMAF Gene

  • Neutral Sphingomyelinase Activation Associated Factor 2 3 5
  • Neutral Sphingomyelinase (N-SMase) Activation Associated Factor 2 3
  • Factor Associated With Neutral Sphingomyelinase Activation 3 4
  • Factor Associated With N-SMase Activation 3 4
  • FAN 3 4
  • Protein FAN 3
  • GRAMD5 3

External Ids for NSMAF Gene

Previous GeneCards Identifiers for NSMAF Gene

  • GC08M059435
  • GC08M059219
  • GC08M059546
  • GC08M059658
  • GC08M054983
  • GC08M059496

Summaries for NSMAF Gene

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 Activation Associated Factor) is a Protein Coding gene. Diseases associated with NSMAF include 8P11 Myeloproliferative Syndrome. Among its related pathways are TNF signaling (REACTOME) and TNFR1 Pathway. GO annotations related to this gene include phospholipid binding and sphingomyelin phosphodiesterase activator activity. An important paralog of this gene is NBEAL2.

UniProtKB/Swiss-Prot for NSMAF Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMAF Gene

Genomics for NSMAF Gene

Regulatory Elements for NSMAF Gene

Enhancers for NSMAF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G058849 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -190.8 -190765 2.4 SMARCC1 JUN USF2 CEBPB EP300 ATF2 GTF3C2 JUND GATA2 NFYB RPS26P7 NSMAF TOX GC08P058884 RNU4-50P GC08M058815
GH08G058658 1.1 ENCODE 5.4 +0.5 506 4.0 PKNOX1 CREB3L1 ARNT SIN3A DMAP1 ZNF766 FOS ZNF263 JUNB TBX21 NSMAF GC08P058645
GH08G058587 0.5 FANTOM5 dbSUPER 1.8 +72.6 72598 0.2 SDCBP NSMAF UBXN2B RPS26P7
GH08G058657 0.7 ENCODE 0.7 +2.8 2755 0.1 SMARCE1 PKNOX1 MTA2 TAL1 ZEB2 DPF2 FOXM1 TCF12 ARID1B SMARCA4 NSMAF GC08P058645
GH08G058671 1 ENCODE 0.4 -12.6 -12554 1.3 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 KLF13 CAVIN1 NCOA1 ZNF592 NSMAF LOC105375858
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSMAF on UCSC Golden Path with GeneCards custom track

Promoters for NSMAF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000224949 745 2201 PKNOX1 CREB3L1 ARNT SIN3A DMAP1 FOS ZNF263 JUNB TBX21 ZNF592

Genomic Location for NSMAF Gene

Chromosome:
8
Start:
58,583,504 bp from pter
End:
58,659,845 bp from pter
Size:
76,342 bases
Orientation:
Minus strand

Genomic View for NSMAF Gene

Genes around NSMAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMAF Gene

Proteins for NSMAF Gene

  • Protein details for NSMAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92636-FAN_HUMAN
    Recommended name:
    Protein FAN
    Protein Accession:
    Q92636
    Secondary Accessions:
    • B4DFB0
    • E9PCH0
    • Q8IW26

    Protein attributes for NSMAF Gene

    Size:
    917 amino acids
    Molecular mass:
    104372 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NSMAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSMAF Gene

Post-translational modifications for NSMAF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NSMAF Gene

No data available for DME Specific Peptides for NSMAF Gene

Domains & Families for NSMAF Gene

Suggested Antigen Peptide Sequences for NSMAF Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NSMAF: view

No data available for UniProtKB/Swiss-Prot for NSMAF Gene

Function for NSMAF Gene

Molecular function for NSMAF Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NSMAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005057 signal transducer activity, downstream of receptor TAS 8808629
GO:0005515 protein binding IPI 17599063
GO:0016230 sphingomyelin phosphodiesterase activator activity IEA --
genes like me logo Genes that share ontologies with NSMAF: view
genes like me logo Genes that share phenotypes with NSMAF: view

Animal Models for NSMAF Gene

MGI Knock Outs for NSMAF:

Animal Model Products

CRISPR Products

miRNA for NSMAF Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NSMAF Gene

Localization for NSMAF Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSMAF gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NSMAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 8808629
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NSMAF: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NSMAF Gene

Pathways & Interactions for NSMAF Gene

genes like me logo Genes that share pathways with NSMAF: view

Pathways by source for NSMAF Gene

Gene Ontology (GO) - Biological Process for NSMAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process TAS 8808629
GO:0007165 signal transduction TAS 8808629
GO:0043065 positive regulation of apoptotic process IEA --
GO:0043085 positive regulation of catalytic activity IEA --
GO:2000304 positive regulation of ceramide biosynthetic process TAS --
genes like me logo Genes that share ontologies with NSMAF: view

No data available for SIGNOR curated interactions for NSMAF Gene

Drugs & Compounds for NSMAF Gene

(1) Drugs for NSMAF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(29) Additional Compounds for NSMAF Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs 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))
genes like me logo Genes that share compounds with NSMAF: view

Transcripts for NSMAF Gene

Unigene Clusters for NSMAF Gene

Neutral sphingomyelinase (N-SMase) activation associated factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSMAF Gene

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:
SP6:

ExUns: 24b ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b
SP1: - -
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for NSMAF Gene

GeneLoc Exon Structure for
NSMAF
ECgene alternative splicing isoforms for
NSMAF

Expression for NSMAF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NSMAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSMAF Gene

This gene is overexpressed in Lymph node (26.2), Spleen (7.3), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSMAF Gene



NURSA nuclear receptor signaling pathways regulating expression of NSMAF Gene:

NSMAF

SOURCE GeneReport for Unigene cluster for NSMAF Gene:

Hs.372000

mRNA Expression by UniProt/SwissProt for NSMAF Gene:

Q92636-FAN_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for NSMAF Gene

  • Nervous system(4.6)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with NSMAF: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSMAF Gene

Orthologs for NSMAF Gene

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

Orthologs for NSMAF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSMAF 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia NSMAF 34 35
  • 88.86 (n)
mouse
(Mus musculus)
Mammalia Nsmaf 34 16 35
  • 87.71 (n)
rat
(Rattus norvegicus)
Mammalia Nsmaf 34
  • 87.28 (n)
cow
(Bos Taurus)
Mammalia NSMAF 34 35
  • 85.1 (n)
oppossum
(Monodelphis domestica)
Mammalia NSMAF 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMAF 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMAF 34 35
  • 75.9 (n)
lizard
(Anolis carolinensis)
Reptilia NSMAF 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmaf 34
  • 70.56 (n)
zebrafish
(Danio rerio)
Actinopterygii nsmaf 34 35
  • 67.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000429 34
  • 47.6 (n)
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 35
  • 6 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 35
  • 11 (a)
OneToMany
Species where no ortholog for NSMAF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSMAF Gene

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

Paralogs for NSMAF Gene

Paralogs for NSMAF Gene

(1) SIMAP similar genes for NSMAF Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for NSMAF Gene

genes like me logo Genes that share paralogs with NSMAF: view

Variants for NSMAF Gene

Sequence variations from dbSNP and Humsavar for NSMAF Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000130367 -- 58,652,132(+) TTAGC(C/T)TTAGG intron-variant
rs1000162429 -- 58,655,499(+) GGCTC(A/G)AGTGA intron-variant
rs1000264512 -- 58,612,766(+) AGCCC(C/T)ACAGC intron-variant
rs1000296121 -- 58,655,247(+) GATTA(C/T)AAGTG intron-variant
rs1000328957 -- 58,643,222(+) GTCCT(C/T)TCTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSMAF Gene

Variant ID Type Subtype PubMed ID
esv3307504 CNV mobile element insertion 20981092
esv3349681 CNV insertion 20981092
esv3390565 CNV insertion 20981092
esv3572783 CNV loss 25503493
esv3617340 CNV gain 21293372
esv3891402 CNV gain 25118596
nsv1031537 CNV gain 25217958
nsv397168 CNV deletion 16902084
nsv831325 CNV gain 17160897
nsv971313 CNV duplication 23825009

Variation tolerance for NSMAF Gene

Residual Variation Intolerance Score: 7.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.85; 79.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMAF Gene

Human Gene Mutation Database (HGMD)
NSMAF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSMAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMAF Gene

Disorders for NSMAF Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSMAF Gene - From: GeneCards

Disorder Aliases PubMed IDs
8p11 myeloproliferative syndrome
  • chromosome 8p11 myeloproliferative syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NSMAF in MalaCards View complete list of genes associated with diseases

Relevant External Links for NSMAF

Genetic Association Database (GAD)
NSMAF
Human Genome Epidemiology (HuGE) Navigator
NSMAF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMAF
genes like me logo Genes that share disorders with NSMAF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSMAF Gene

Publications for NSMAF Gene

  1. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. (PMID: 8808629) Adam-Klages S. … Kroenke M. (Cell 1996) 2 3 4 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Assignment of the human FAN protein gene (NSMAF) to human chromosome region 8q12-->q13 by in situ hybridization. (PMID: 10640829) Zhang Y. … Schlegelberger B. (Cytogenet. Cell Genet. 1999) 2 3 64
  4. Inhibition of receptor internalization by monodansylcadaverine selectively blocks p55 tumor necrosis factor receptor death domain signaling. (PMID: 10187805) SchA1tze S. … KrAPnke M. (J. Biol. Chem. 1999) 3 22 64
  5. CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. (PMID: 10601289) SAcgui B. … Levade T. (J. Biol. Chem. 1999) 3 22 64

Products for NSMAF Gene

Sources for NSMAF Gene

Content
Loading form....