Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8439
Gene name	Neutral sphingomyelinase activation associated factor
Gene symbol	NSMAF
Synonyms (NCBI Gene)	FANGRAMD5
Chromosome	8
Chromosome location	8q12.1
Summary	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 regulat

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022284	hsa-miR-124-3p	Microarray	18668037
MIRT028876	hsa-miR-26b-5p	Microarray	19088304
MIRT050349	hsa-miR-25-3p	CLASH	23622248
MIRT049421	hsa-miR-92a-3p	CLASH	23622248
MIRT1195312	hsa-miR-1226	CLIP-seq
MIRT1195313	hsa-miR-135a	CLIP-seq
MIRT1195314	hsa-miR-135b	CLIP-seq
MIRT1195315	hsa-miR-181a	CLIP-seq
MIRT1195316	hsa-miR-181b	CLIP-seq
MIRT1195317	hsa-miR-181c	CLIP-seq
MIRT1195318	hsa-miR-181d	CLIP-seq
MIRT1195319	hsa-miR-197	CLIP-seq
MIRT1195320	hsa-miR-224	CLIP-seq
MIRT1195321	hsa-miR-25	CLIP-seq
MIRT1195322	hsa-miR-3119	CLIP-seq
MIRT1195323	hsa-miR-3143	CLIP-seq
MIRT1195324	hsa-miR-32	CLIP-seq
MIRT1195325	hsa-miR-363	CLIP-seq
MIRT1195326	hsa-miR-367	CLIP-seq
MIRT1195327	hsa-miR-4262	CLIP-seq
MIRT1195328	hsa-miR-4536	CLIP-seq
MIRT1195329	hsa-miR-4637	CLIP-seq
MIRT1195330	hsa-miR-4716-5p	CLIP-seq
MIRT1195331	hsa-miR-4733-3p	CLIP-seq
MIRT1195332	hsa-miR-4735-5p	CLIP-seq
MIRT1195333	hsa-miR-543	CLIP-seq
MIRT1195334	hsa-miR-548a-3p	CLIP-seq
MIRT1195335	hsa-miR-548e	CLIP-seq
MIRT1195336	hsa-miR-548f	CLIP-seq
MIRT1195337	hsa-miR-561	CLIP-seq
MIRT1195338	hsa-miR-576-5p	CLIP-seq
MIRT1195339	hsa-miR-587	CLIP-seq
MIRT1195340	hsa-miR-92a	CLIP-seq
MIRT1195341	hsa-miR-92b	CLIP-seq
MIRT1195342	hsa-miR-548aa	CLIP-seq
MIRT1195337	hsa-miR-561	CLIP-seq
MIRT2285126	hsa-miR-3123	CLIP-seq
MIRT1195312	hsa-miR-1226	CLIP-seq
MIRT1195313	hsa-miR-135a	CLIP-seq
MIRT1195314	hsa-miR-135b	CLIP-seq
MIRT2583099	hsa-miR-1468	CLIP-seq
MIRT1195315	hsa-miR-181a	CLIP-seq
MIRT1195316	hsa-miR-181b	CLIP-seq
MIRT1195317	hsa-miR-181c	CLIP-seq
MIRT1195318	hsa-miR-181d	CLIP-seq
MIRT2583100	hsa-miR-1913	CLIP-seq
MIRT2583101	hsa-miR-194	CLIP-seq
MIRT1195319	hsa-miR-197	CLIP-seq
MIRT1195320	hsa-miR-224	CLIP-seq
MIRT2583102	hsa-miR-2355-5p	CLIP-seq
MIRT1195321	hsa-miR-25	CLIP-seq
MIRT2583103	hsa-miR-299-5p	CLIP-seq
MIRT1195322	hsa-miR-3119	CLIP-seq
MIRT2583104	hsa-miR-3121-3p	CLIP-seq
MIRT2285126	hsa-miR-3123	CLIP-seq
MIRT2583105	hsa-miR-3129-3p	CLIP-seq
MIRT1195323	hsa-miR-3143	CLIP-seq
MIRT2583106	hsa-miR-3157-3p	CLIP-seq
MIRT2583107	hsa-miR-3191	CLIP-seq
MIRT1195324	hsa-miR-32	CLIP-seq
MIRT2583108	hsa-miR-324-3p	CLIP-seq
MIRT1195325	hsa-miR-363	CLIP-seq
MIRT1195326	hsa-miR-367	CLIP-seq
MIRT2583109	hsa-miR-3675-3p	CLIP-seq
MIRT2583110	hsa-miR-3679-3p	CLIP-seq
MIRT1195327	hsa-miR-4262	CLIP-seq
MIRT2583111	hsa-miR-4307	CLIP-seq
MIRT1195328	hsa-miR-4536	CLIP-seq
MIRT2583112	hsa-miR-4686	CLIP-seq
MIRT2583113	hsa-miR-4690-3p	CLIP-seq
MIRT1195330	hsa-miR-4716-5p	CLIP-seq
MIRT2583114	hsa-miR-4719	CLIP-seq
MIRT1195331	hsa-miR-4733-3p	CLIP-seq
MIRT2583115	hsa-miR-487a	CLIP-seq
MIRT1195333	hsa-miR-543	CLIP-seq
MIRT1195334	hsa-miR-548a-3p	CLIP-seq
MIRT1195342	hsa-miR-548aa	CLIP-seq
MIRT2583116	hsa-miR-548c-3p	CLIP-seq
MIRT1195335	hsa-miR-548e	CLIP-seq
MIRT1195336	hsa-miR-548f	CLIP-seq
MIRT2583117	hsa-miR-548n	CLIP-seq
MIRT2583118	hsa-miR-548t	CLIP-seq
MIRT1195337	hsa-miR-561	CLIP-seq
MIRT2583119	hsa-miR-582-5p	CLIP-seq
MIRT2583120	hsa-miR-586	CLIP-seq
MIRT1195339	hsa-miR-587	CLIP-seq
MIRT2583121	hsa-miR-600	CLIP-seq
MIRT2583122	hsa-miR-659	CLIP-seq
MIRT2583123	hsa-miR-889	CLIP-seq
MIRT1195340	hsa-miR-92a	CLIP-seq
MIRT1195341	hsa-miR-92b	CLIP-seq
MIRT1195312	hsa-miR-1226	CLIP-seq
MIRT1195313	hsa-miR-135a	CLIP-seq
MIRT1195314	hsa-miR-135b	CLIP-seq
MIRT2583099	hsa-miR-1468	CLIP-seq
MIRT1195315	hsa-miR-181a	CLIP-seq
MIRT1195316	hsa-miR-181b	CLIP-seq
MIRT1195317	hsa-miR-181c	CLIP-seq
MIRT1195318	hsa-miR-181d	CLIP-seq
MIRT2583100	hsa-miR-1913	CLIP-seq
MIRT1195319	hsa-miR-197	CLIP-seq
MIRT1195320	hsa-miR-224	CLIP-seq
MIRT2583102	hsa-miR-2355-5p	CLIP-seq
MIRT1195321	hsa-miR-25	CLIP-seq
MIRT2583103	hsa-miR-299-5p	CLIP-seq
MIRT1195322	hsa-miR-3119	CLIP-seq
MIRT2285126	hsa-miR-3123	CLIP-seq
MIRT2583105	hsa-miR-3129-3p	CLIP-seq
MIRT1195323	hsa-miR-3143	CLIP-seq
MIRT2583106	hsa-miR-3157-3p	CLIP-seq
MIRT2583107	hsa-miR-3191	CLIP-seq
MIRT1195324	hsa-miR-32	CLIP-seq
MIRT2583108	hsa-miR-324-3p	CLIP-seq
MIRT1195325	hsa-miR-363	CLIP-seq
MIRT1195326	hsa-miR-367	CLIP-seq
MIRT2583109	hsa-miR-3675-3p	CLIP-seq
MIRT2583110	hsa-miR-3679-3p	CLIP-seq
MIRT1195327	hsa-miR-4262	CLIP-seq
MIRT2583112	hsa-miR-4686	CLIP-seq
MIRT2583113	hsa-miR-4690-3p	CLIP-seq
MIRT1195331	hsa-miR-4733-3p	CLIP-seq
MIRT2583115	hsa-miR-487a	CLIP-seq
MIRT1195333	hsa-miR-543	CLIP-seq
MIRT2583116	hsa-miR-548c-3p	CLIP-seq
MIRT2583117	hsa-miR-548n	CLIP-seq
MIRT2583118	hsa-miR-548t	CLIP-seq
MIRT1195337	hsa-miR-561	CLIP-seq
MIRT2583119	hsa-miR-582-5p	CLIP-seq
MIRT2583121	hsa-miR-600	CLIP-seq
MIRT2583122	hsa-miR-659	CLIP-seq
MIRT1195340	hsa-miR-92a	CLIP-seq
MIRT1195341	hsa-miR-92b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17599063, 20562859, 26133670, 28514442, 33961781
GO:0005737	Component	Cytoplasm	TAS	8808629
GO:0005829	Component	Cytosol	TAS
GO:0006672	Process	Ceramide metabolic process	TAS	8808629
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8808629
GO:0016020	Component	Membrane	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0034250	Process	Positive regulation of amide metabolic process	IEA
GO:0045834	Process	Positive regulation of lipid metabolic process	IEA
GO:1905038	Process	Regulation of membrane lipid metabolic process	IEA

MIM	HGNC	e!Ensembl
603043	8017	ENSG00000035681

Q92636

Protein name

Protein FAN (Factor associated with neutral sphingomyelinase activation) (Factor associated with N-SMase activation)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02893	GRAM	176 → 294	GRAM domain	Domain
PF02138	Beach	303 → 575	Beige/BEACH domain	Family
PF00400	WD40	704 → 740	WD domain, G-beta repeat	Repeat
PF00400	WD40	795 → 833	WD domain, G-beta repeat	Repeat
PF00400	WD40	877 → 914	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAFIRKKQQEQQLQLYSKERFSLLLLNLEEYYFEQHRANHILHKGSHHERKIRGSLKICS
KSVIFEPDSISQPIIKIPLRDCIKIGKHGENGANRHFTKAKSGGISLIFSQVYFIKEHNV
VAPYKIERGKMEYVFELDVPGKVEDVVETLLQLHRASCLDKLGDQTAMITAILQSRLART
SFDKNRFQNISEKLHMECKAEMVTPLVTNPGHVCITDTNLYFQPLNGYPKPVVQITLQDV
RRIYKRRHGLMPLGLEVFCTEDDLCSDIYLKFYEPQDRDDLYFYIATYLEHHVAEHTAES
YMLQWQRGHLSNYQYLLHLNNLADRSCNDLSQYPVFPWIIHDYSSSELDLSNPGTFRDLS
KPVGALNKERLERLLTRYQEMPEPKFMYGSHYSSPGYVLFYLVRIAPEYMLCLQNGRFDN
ADRMFNSIAETWKNCLDGATDFKELIPEFYGDDVSFLVNSLKLDLGKRQGGQMVDDVELP
PWASSPEDFLQKSKDALESNYVSEHLHEWIDLIFGYKQKGSDAVGAHNVFHPLTYEGGVD
LNSIQDPDEKVAMLTQILEFGQTPKQLFVTPHPRRITPKFKSLSQTSSYNASMADSPGEE
SFEDLTEESKTLAWNNITKLQLHEHYKIHKEAVTGITVSRNGSSVFTTSQDSTLKMFSKE
SKMLQRSISFSNMALSSCLLLPGDATVITSSWDNNVYFYSIAFGRRQDTLMGHDDAVSKI
CWHDNRLYSASWDSTVKVWSGVPAEMPGTKRHHFDLLAELEHDVSVDTISLNAASTLLVS
GTKEGTVNIWDLTTATLMHQIPCHSGIVCDTAFSPDSRHVLSTGTDGCLNVIDVQTGMLI
SSMTSDEPQRCFVWDGNSVLSGSQSGELLVWDLLGAKISERIQGHTGAVTCIWMNEQCSS
IITGGEDRQIIFWKLQY

Sequence length

917

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid signaling pathway		TNFR1-mediated ceramide production

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ESSENTIAL TREMOR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35508649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23674089		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23674089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23674089		★★★★★ ★☆☆☆☆ Found in Text Mining only

NSMAF (neutral sphingomyelinase activation associated factor)