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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NSMAF Gene

protein-coding GIFtS: 56
GCID: GC08M059496

neutral sphingomyelinase (N-SMase) activation associated...

Explore 4 diseases affiliated with
NSMAF via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Neutral Sphingomyelinase (N-SMase) Activation Associated Factor¹ ²
FAN¹ ² 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:

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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 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 plasmid: NSMAF 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92636

NSMAF Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001138244.1 NP_003571.2

ENSEMBL proteins:

ENSP00000038176 ENSP00000411012 ENSP00000430195 ENSP00000430982

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: NSMAF OriGene Protein Over-expression Lysate: NSMAF OriGene Custom Protein Services for NSMAF
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	Novus Biologicals NSMAF Protein Novus Biologicals NSMAF Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NSMAF

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005737	cytoplasm	TAS	8808629

NSMAF for ontologies About GeneDecksing

NSMAF Antibody Products:

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	Novus Biologicals NSMAF Antibodies
	Search for Antibodies for NSMAF at Abcam
	Uscn Antibodies for NSMAF
	ThermoFisher Antibodies for NSMAF

Assay Products for NSMAF:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for NSMAF
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NSMAF

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NSMAF for domains About GeneDecksing

5/6 InterPro domains/families (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 families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NSMAF Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSMAF
		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 plasmid: NSMAF 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSMAF (see all 7) OriGene shRNA RFP: NSMAF OriGene siRNA: NSMAF
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSMAF

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NSMAF

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSMAF (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSMAF (see all 2) 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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NSMAF
		Search LifeMap BioReagents cell lines for NSMAF

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSMAF

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005057	receptor signaling protein activity	TAS	8808629
GO:0005515	protein binding	IPI	--

NSMAF for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Nsmaf^tm1Mkr for NSMAF
     4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nsmaf):

hematopoietic system

homeostasis/metabolism

immune system

integument

NSMAF for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TNF-Induced Apoptosis Implicating Sphingolipids

TNF-Induced Apoptosis Implicating Sphingolipids

1.00

Ceramide Pathway

0.32

TNF receptor signaling pathway

TNF receptor signaling pathway

1.00

TNF-alpha/NF-kB Signaling Pathway

TNF-alpha/NF-kB Signaling Pathway

1.00

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 Central^TM Interacting Genes and Proteins Network for NSMAF

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

5/387 Interacting proteins for NSMAF (Q92636^{1, 2, 3} ENSP00000411012⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 387)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTB	P60709²^,³, ENSP00000349960⁴	MINT-5115772 MINT-5115815 I2D: score=2 STRING: ENSP00000349960
GABARAPL1	Q9H0R8¹^,³	EBI-2947053,EBI-3240381 I2D: score=4
GABARAP	O95166¹^,³	EBI-2947053,EBI-712001 I2D: score=2
RPL9	P32969³	I2D: score=1
RPL9P7	P32969³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006672	ceramide metabolic process	TAS	8808629
GO:0007165	signal transduction	TAS	8808629

NSMAF for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

10/35 HMDB Compounds for NSMAF (see all 35) About this table

Compound	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 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 235 Homo sapiens; Mar 10 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,
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, 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:		OriGene 3'-UTR Clone (see all 2): NSMAF Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSMAF
		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 plasmid: NSMAF 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSMAF (see all 7) OriGene shRNA RFP: NSMAF OriGene siRNA: NSMAF
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSMAF

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSMAF (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSMAF (see all 2) 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSMAF
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSMAF

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NSMAF Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NSMAF
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSMAF
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMAF

Additional cDNA 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):

H47398 BU190062 AI342547 BU509152 BQ011305 AI201797 AI342944 AW243695

BQ221489 W93092 BQ272157 AA598854 CR609002 AI200497 AA721096 BQ228188

BG117118 BQ012198 AI475500 CA423323 AA878246 NM_003580 AI972111 BF724618

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NSMAF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Thalamus

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SABiosciences Custom PCR Arrays for NSMAF

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NSMAF Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NSMAF
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSMAF
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSMAF

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.

Orthologs for NSMAF gene from 5/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	76(a)	1 ↔ 1	4(27665791-27692848)
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
worm (Caenorhabditis elegans)	Secernentea	T01H10.8⁶	--	5(a)	1 ↔ 1	X(12128075-12141083)

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 LRBA² NBEAL1² WDFY4² 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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3739327^1,2	C,F,A,H,	--	59496052(+)	`ATAAAA/GTGAAA`	2	--	ds500¹		17		NS EA NA CSA WA	2329
rs143812039^1,2		--	59496124(+)	`CAAACC/GGTTCC`	2	--	ut3¹		0	--	--	--	--
rs147254735^1,2		--	59496125(+)	`AAACCA/GTTCCT`	2	--	ut3¹		0	--	--	--	--
rs140730866^1,2		--	59496156(+)	`GAACTA/GCTAAT`	2	--	ut3¹		0	--	--	--	--
rs76433721^1,2	C,F,	--	59496376(+)	`TAGCTA/CTTCTC`	2	--	ut3¹		1		WA	118
rs1050504^1,2	C,F,O,H,	--	59496416(-)	`TCCCCG/ATATGA`	2	--	ut3¹ ese³		22		MN NA NS EA CSA WA	2663
rs201540264^1,2	C	--	59496460(+)	`CTAACA/CCAGCC`	2	--	ut3¹		0	--	--	--	--
rs144693853^1,2		--	59496466(+)	`CAGCCA/GCATTT`	2	--	ut3¹		0	--	--	--	--
rs1050488^1,2	C,F,O,H,	--	59496490(-)	`GTTGCT/CATTCT`	2	--	ut3¹ ese³		28		MN NA NS EA CSA WA	3077
rs182629991^1,2		--	59496519(+)	`TCACCA/GTGATT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NSMAF (59496063 - 59572404 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NSMAF
1 CNV: 6623

SABiosciences Cancer Mutation PCR Assays

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(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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NSMAF for disorders           About GeneDecksing

OMIM gene information: 603043    OMIM disorders: --

4 diseases for NSMAF:    About MalaCards

chediak-higashi syndrome posterior scleritis scleritis malaria

2 Novoseek 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)

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 9 sources (see all 20):
(articles sorted by number of sources associating them with NSMAF)

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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)
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)
CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. (PubMed id 10601289)^{1, 9} Segui B....Levade T. (1999)
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)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Network organization of the human autophagy system. (PubMed id 20562859)¹ Behrends C....Harper J.W. (2010)
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 Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
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)
PtdIns(4,5)P-restricted plasma membrane localization of FAN is involved in TNF-induced actin reorganization. (PubMed id 17599063)¹ Haubert D....Kashkar H. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8439	HGNC: 8017	AceView: NSMAF	Ensembl:ENSG00000035681	euGenes: HUgn8439
ECgene: NSMAF	H-InvDB: NSMAF

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

Intellectual Property for NSMAF gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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

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