NSMAF

Summary

NSMAF (neutral sphingomyelinase activation associated factor, HGNC:8017) is a protein-coding gene on chromosome 8q12.1, encoding Protein FAN (Q92636). Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE).

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.

Source: NCBI Gene 8439 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 162 total
• MANE Select transcript: NM_003580

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8017
Approved symbol	NSMAF
Name	neutral sphingomyelinase activation associated factor
Location	8q12.1
Locus type	gene with protein product
Status	Approved
Aliases	FAN, GRAMD5
Ensembl gene	ENSG00000035681
Ensembl biotype	protein_coding
OMIM	603043
Entrez	8439

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 11 protein_coding, 10 retained_intron, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000038176, ENST00000427130, ENST00000517612, ENST00000518159, ENST00000518229, ENST00000519166, ENST00000519174, ENST00000519227, ENST00000519858, ENST00000519871, ENST00000521712, ENST00000521972, ENST00000522645, ENST00000523106, ENST00000523177, ENST00000523982, ENST00000524148, ENST00000649465, ENST00000870782, ENST00000870783, ENST00000870784, ENST00000958101, ENST00000958102, ENST00000958103, ENST00000958104, ENST00000958105, ENST00000958106

RefSeq mRNA: 21 — MANE Select: NM_003580 NM_001144772, NM_001412988, NM_001412989, NM_001412990, NM_001412991, NM_001412992, NM_001412993, NM_001412994, NM_001412995, NM_001412996, NM_001412997, NM_001412998, NM_001412999, NM_001413000, NM_001413001, NM_001413002, NM_001413003, NM_001413004, NM_001413005, NM_001413006, NM_003580

CCDS: CCDS47864, CCDS6173

Canonical transcript exons

ENST00000038176 — 31 exons

Exon	Start	End
ENSE00000980418	58586458	58586608
ENSE00000980420	58585898	58586000
ENSE00000980422	58585652	58585761
ENSE00001118242	58623377	58623424
ENSE00001118254	58601285	58601348
ENSE00001118256	58623709	58623780
ENSE00001198048	58659573	58659853
ENSE00001242078	58583508	58584200
ENSE00003463129	58597387	58597550
ENSE00003473113	58597860	58597902
ENSE00003502904	58595560	58595659
ENSE00003531110	58587618	58587701
ENSE00003533760	58590007	58590074
ENSE00003541433	58607769	58607840
ENSE00003544982	58602058	58602137
ENSE00003571254	58635305	58635372
ENSE00003576991	58631496	58631546
ENSE00003578977	58601445	58601535
ENSE00003579085	58599232	58599363
ENSE00003587686	58589452	58589575
ENSE00003588704	58599750	58599870
ENSE00003598613	58623220	58623272
ENSE00003611104	58642984	58643073
ENSE00003621043	58635189	58635225
ENSE00003635790	58603210	58603386
ENSE00003647099	58635468	58635546
ENSE00003647965	58609604	58609733
ENSE00003659268	58590867	58590934
ENSE00003663569	58605927	58606035
ENSE00003673482	58599970	58600021
ENSE00003683707	58594232	58594290

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 95.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.8803 / max 920.7762, expressed in 1819 samples.

FANTOM5 promoters (23 alternative TSS)

Promoter ID	TPM avg	Samples expressed
93214	16.4818	1804
93213	3.7789	1625
93199	3.1577	127
93195	2.2202	88
93211	2.2191	1195
93212	1.1481	747
93197	0.7881	121
93201	0.7470	105
93209	0.7092	403
93196	0.5883	86

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gingival epithelium	UBERON:0001949	95.80	gold quality
tibia	UBERON:0000979	95.72	gold quality
esophagus squamous epithelium	UBERON:0006920	95.58	gold quality
calcaneal tendon	UBERON:0003701	95.06	gold quality
squamous epithelium	UBERON:0006914	94.96	gold quality
germinal epithelium of ovary	UBERON:0001304	94.73	gold quality
stromal cell of endometrium	CL:0002255	94.53	gold quality
visceral pleura	UBERON:0002401	94.48	gold quality
gingiva	UBERON:0001828	94.36	gold quality
choroid plexus epithelium	UBERON:0003911	94.27	gold quality
skin of hip	UBERON:0001554	94.25	gold quality
parietal pleura	UBERON:0002400	94.05	gold quality
pleura	UBERON:0000977	93.99	gold quality
body of pancreas	UBERON:0001150	93.91	gold quality
palpebral conjunctiva	UBERON:0001812	93.82	gold quality
epithelium of esophagus	UBERON:0001976	93.68	gold quality
superficial temporal artery	UBERON:0001614	93.49	gold quality
tonsil	UBERON:0002372	93.44	gold quality
epithelium of nasopharynx	UBERON:0001951	93.33	gold quality
adrenal tissue	UBERON:0018303	93.32	gold quality
periodontal ligament	UBERON:0008266	93.22	gold quality
monocyte	CL:0000576	93.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.06	gold quality
skin of abdomen	UBERON:0001416	93.06	gold quality
leukocyte	CL:0000738	93.01	gold quality
blood	UBERON:0000178	93.00	gold quality
mononuclear cell	CL:0000842	92.99	gold quality
granulocyte	CL:0000094	92.88	gold quality
skin of leg	UBERON:0001511	92.76	gold quality
rectum	UBERON:0001052	92.71	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.82
E-GEOD-100618	no	230.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting NSMAF, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-10B-3P	99.04	66.98	988

Literature-anchored findings (GeneRIF, showing 5)

• The interaction of FAN with receptor for activated C-kinase 1 (RACK1) appears to be dependent on the folding of the WD repeats into a secondary structure, because no linear binding motifs are identified in the WD-repeat region of FAN. (PMID:12391233)
• sphingolipid activator proteins like domain may stabilize the fold of acid sphingomyelinase (PMID:15653433)
• Regulation of NSMAF by TNF-alpha involves PRKCD in lung epithelial cells. (PMID:18653803)
• The rs1050504 C > T genotype was observed to be significantly associated with an increased risk for developing pulmonary tuberculosis. (PMID:29115933)
• these data identify a novel caspase-2-interacting factor, FAN, and expand the role for the enzyme in seemingly non-apoptotic cellular mechanisms. (PMID:29621545)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nsmaf	ENSDARG00000051920
mus_musculus	Nsmaf	ENSMUSG00000028245
rattus_norvegicus	Nsmaf	ENSRNOG00000010234
caenorhabditis_elegans		WBGENE00004760
caenorhabditis_elegans		WBGENE00007752

Paralogs (7): WDFY4 (ENSG00000128815), LYST (ENSG00000143669), NBEAL1 (ENSG00000144426), NBEAL2 (ENSG00000160796), WDFY3 (ENSG00000163625), NBEA (ENSG00000172915), LRBA (ENSG00000198589)

Protein

Protein identifiers

Protein FAN — Q92636 (reviewed: Q92636)

Alternative names: Factor associated with neutral sphingomyelinase activation

All UniProt accessions (3): E5RGF5, E5RGU2, Q92636

UniProt curated annotations — full annotation on UniProt →

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.

Tissue specificity. Ubiquitous.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92636-1	1	yes
Q92636-2	2

RefSeq proteins (21): NP_001138244, NP_001399917, NP_001399918, NP_001399919, NP_001399920, NP_001399921, NP_001399922, NP_001399923, NP_001399924, NP_001399925, NP_001399926, NP_001399927, NP_001399928, NP_001399929, NP_001399930, NP_001399931, NP_001399932, NP_001399933, NP_001399934, NP_001399935, NP_003571* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000409	BEACH_dom	Domain
IPR001680	WD40_rpt	Repeat
IPR004182	GRAM	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR023362	PH-BEACH_dom	Domain
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR036372	BEACH_dom_sf	Homologous_superfamily
IPR050865	BEACH_Domain	Family
IPR057496	FAN-like_PH	Domain

Pfam: PF00400, PF02138, PF02893, PF25400

UniProt features (13 total): repeat 6, domain 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92636-F1	88.46	0.71

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5626978	TNFR1-mediated ceramide production

MSigDB gene sets: 194 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_RESPONSE_TO_PEPTIDE, GTGCCTT_MIR506, ONKEN_UVEAL_MELANOMA_UP, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_DN, PID_TNF_PATHWAY, GOBP_AMIDE_METABOLIC_PROCESS, LIAO_METASTASIS, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, GOBP_LIPID_METABOLIC_PROCESS, GOBP_CERAMIDE_METABOLIC_PROCESS

GO Biological Process (6): ceramide metabolic process (GO:0006672), signal transduction (GO:0007165), tumor necrosis factor-mediated signaling pathway (GO:0033209), obsolete positive regulation of amide metabolic process (GO:0034250), positive regulation of lipid metabolic process (GO:0045834), obsolete regulation of membrane lipid metabolic process (GO:1905038)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
TNF signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
sphingolipid metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytokine-mediated signaling pathway	1
cellular response to tumor necrosis factor	1
lipid metabolic process	1
positive regulation of metabolic process	1
regulation of lipid metabolic process	1
binding	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1050 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NSMAF	SMPD2	O60906	917
NSMAF	TNFRSF1A	P19438	864
NSMAF	FAM110B	Q8TC76	591
NSMAF	UBXN2B	Q14CS0	565
NSMAF	RACK1	P25388	564
NSMAF	ARMC6	Q6NXE6	465
NSMAF	SDR16C5	Q8N3Y7	426
NSMAF	SMPD3	Q9NY59	398
NSMAF	BRINP1	O60477	397
NSMAF	PLCXD2	Q0VAA5	397
NSMAF	TMEM68	Q96MH6	390
NSMAF	BPNT2	Q9NX62	381
NSMAF	PRKACA	P17612	381
NSMAF	PRKACB	P22694	380
NSMAF	PRKACG	P22612	379

IntAct

34 interactions, top by confidence:

A	B	Type	Score
HEXIM1	CCNT1	psi-mi:“MI:0914”(association)	0.930
NSMAF	GABARAPL1	psi-mi:“MI:0407”(direct interaction)	0.720
GABARAPL1	IPO5	psi-mi:“MI:0914”(association)	0.590
NSMAF	DCP1B	psi-mi:“MI:0407”(direct interaction)	0.530
DCP1A	NSMAF	psi-mi:“MI:0915”(physical association)	0.530
NSMAF		psi-mi:“MI:0915”(physical association)	0.530
DCP1B	NSMAF	psi-mi:“MI:0915”(physical association)	0.530
NSMAF		psi-mi:“MI:0407”(direct interaction)	0.530
DCP1A	NSMAF	psi-mi:“MI:0407”(direct interaction)	0.530
NSMAF	DUSP14	psi-mi:“MI:0914”(association)	0.530
NSMAF	GABARAP	psi-mi:“MI:0407”(direct interaction)	0.520
VASP	NSMAF	psi-mi:“MI:0915”(physical association)	0.500
ACTB	NSMAF	psi-mi:“MI:0915”(physical association)	0.500
NSMAF	VASP	psi-mi:“MI:0914”(association)	0.500
NSMAF	GABARAPL2	psi-mi:“MI:0407”(direct interaction)	0.440
NSMAF	MAP1LC3B	psi-mi:“MI:0407”(direct interaction)	0.440
MAP1LC3C	NSMAF	psi-mi:“MI:0407”(direct interaction)	0.440
TNFRSF1A	NSMAF	psi-mi:“MI:0915”(physical association)	0.400
NSMAF	EPB41L2	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
GABARAPL1	GABARAP	psi-mi:“MI:0914”(association)	0.350
MAP1LC3A		psi-mi:“MI:0914”(association)	0.350
GABARAPL1		psi-mi:“MI:0914”(association)	0.350
GABARAP		psi-mi:“MI:0914”(association)	0.350
NSMAF	XIRP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (69): NSMAF (Affinity Capture-MS), GNB2L1 (Two-hybrid), NSMAF (Affinity Capture-Western), CCT6A (Affinity Capture-MS), EPB41L2 (Affinity Capture-MS), PFDN2 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT4 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT8 (Affinity Capture-MS), CCT5 (Affinity Capture-MS), FBXL19 (Affinity Capture-MS), DOCK8 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K344, D3ZGS3, F1M386, F1MSG6, F1PBJ0, G5EF51, O00329, O02697, O35242, O35904, O70481, O88763, O94830, P32871, P42336, P42337, P42338, P42339, P42347, P42348, P48736, P50520, P54676, P70600, Q01968, Q14289, Q14BI7, Q16JS8, Q3MHU3, Q3UYK3, Q4KWH5, Q4KWH8, Q5D891, Q5ZI89, Q6AZN6, Q6GQ76, Q6NVF0, Q6PF93, Q7Z392, Q80Y98

Diamond homologs: A8XSV3, D4A929, E7FAW3, E9Q2M9, F4HZB2, F4IG73, F4JD14, F4JHT3, O35242, P0C6P0, P25356, P50851, P97412, Q19317, Q54PP7, Q54RQ8, Q55AV3, Q55DM1, Q562E7, Q5ND34, Q6VNB8, Q6ZNJ1, Q6ZQA0, Q6ZS30, Q6ZS81, Q7LKZ7, Q86JF2, Q8IZQ1, Q8NFP9, Q92636, Q99698, Q9DDD5, Q9EPN1, Q9ESE1, Q9TTK4, Q9W060, Q9W4E2, E7FEV0, F4JY12, Q10122

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Macroautophagy	6	34.6×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
autophagosome maturation	6	95.8×	2e-09
mitophagy	6	86.7×	3e-09
autophagosome assembly	6	61.3×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

162 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	115
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

4504 predictions. Top by Δscore:

Variant	Effect	Δscore
8:58585646:GCTTA:G	donor_loss	1.0000
8:58585647:CTTA:C	donor_loss	1.0000
8:58585648:TTACC:T	donor_loss	1.0000
8:58585649:TA:T	donor_loss	1.0000
8:58586481:ACAAT:A	donor_gain	1.0000
8:58586482:CAATC:C	donor_gain	1.0000
8:58586486:C:A	donor_gain	1.0000
8:58587617:CA:C	donor_gain	1.0000
8:58589874:T:C	donor_gain	1.0000
8:58594286:CTGCT:C	acceptor_gain	1.0000
8:58595558:A:AC	donor_gain	1.0000
8:58595558:ACT:A	donor_gain	1.0000
8:58595559:C:CT	donor_gain	1.0000
8:58595559:CT:C	donor_gain	1.0000
8:58595559:CTC:C	donor_gain	1.0000
8:58595559:CTCT:C	donor_gain	1.0000
8:58595588:A:C	donor_gain	1.0000
8:58595657:CAC:C	acceptor_gain	1.0000
8:58595659:CCTG:C	acceptor_loss	1.0000
8:58595660:C:CC	acceptor_gain	1.0000
8:58595660:C:CG	acceptor_loss	1.0000
8:58595661:T:A	acceptor_loss	1.0000
8:58597436:TTTAA:T	donor_gain	1.0000
8:58597901:TA:T	acceptor_gain	1.0000
8:58597903:C:CC	acceptor_gain	1.0000
8:58599257:C:CA	donor_gain	1.0000
8:58599748:A:AC	donor_gain	1.0000
8:58599749:C:CT	donor_gain	1.0000
8:58599749:CT:C	donor_gain	1.0000
8:58599866:ATTAA:A	acceptor_gain	1.0000

AlphaMissense

6107 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:58597499:A:C	F560L	1.000
8:58597499:A:T	F560L	1.000
8:58597501:A:G	F560L	1.000
8:58597497:C:T	G561E	0.999
8:58599292:A:G	W509R	0.999
8:58599292:A:T	W509R	0.999
8:58599973:T:A	K443N	0.999
8:58599973:T:G	K443N	0.999
8:58599974:T:A	K443I	0.999
8:58601296:T:A	R423S	0.999
8:58601296:T:G	R423S	0.999
8:58601297:C:G	R423T	0.999
8:58601309:T:A	D419V	0.999
8:58601310:C:G	D419H	0.999
8:58601449:C:A	R404S	0.999
8:58601449:C:G	R404S	0.999
8:58601450:C:A	R404M	0.999
8:58601450:C:G	R404T	0.999
8:58601491:A:C	S390R	0.999
8:58601491:A:T	S390R	0.999
8:58601493:T:G	S390R	0.999
8:58601503:G:C	F386L	0.999
8:58601503:G:T	F386L	0.999
8:58601505:A:G	F386L	0.999
8:58603243:A:G	W338R	0.999
8:58603243:A:T	W338R	0.999
8:58603281:C:G	R325P	0.999
8:58603340:C:A	W305C	0.999
8:58603340:C:G	W305C	0.999
8:58603342:A:G	W305R	0.999

dbSNP variants (sampled 300 via entrez): RS1000130367 (8:58652132 T>C), RS1000162429 (8:58655499 G>A), RS1000264512 (8:58612766 C>A,T), RS1000296121 (8:58655247 C>T), RS1000328957 (8:58643222 C>T), RS1000355814 (8:58629774 T>A,C), RS1000378101 (8:58622514 C>T), RS1000401865 (8:58598273 G>C), RS1000410775 (8:58622860 G>A), RS1000419218 (8:58606535 C>T), RS1000497984 (8:58656398 A>C), RS1000503151 (8:58614314 A>G), RS1000535432 (8:58607581 A>G), RS1000553694 (8:58635910 C>A), RS1000558921 (8:58598504 A>C,G)

Disease associations

OMIM: gene MIM:603043 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009066_15	Mosaic loss of chromosome Y (Y chromosome dosage)	4.000000e-08
GCST012189_9	Systolic blood pressure and diastolic blood pressure (bivariate analysis)	6.000000e-06
GCST90002379_120	Basophil count	2.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Neutral sphingomyelinase coupling factors

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
trichostatin A	affects expression, increases expression	2
(+)-JQ1 compound	affects expression, increases reaction, decreases expression	2
Benzo(a)pyrene	decreases expression	2
Doxorubicin	decreases expression, affects response to substance	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
arsenite	affects binding, increases reaction	1
sodium arsenite	increases expression	1
propionic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Irinotecan	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Panobinostat	affects expression, increases reaction	1
Air Pollutants	increases expression, increases abundance	1
Atrazine	decreases expression	1
Benzene	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_W802	PC-53	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.