SMG7

Summary

SMG7 (SMG7 nonsense mediated mRNA decay factor, HGNC:16792) is a protein-coding gene on chromosome 1q25.3, encoding Nonsense-mediated mRNA decay factor SMG7 (Q92540). Plays a role in nonsense-mediated mRNA decay. It is a selective cancer dependency (DepMap: 47.8% of cell lines).

This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 9887 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autoimmune disease (No Known Disease Relationship, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 160 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 47.8% of screened cell lines
• MANE Select transcript: NM_001375584

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16792
Approved symbol	SMG7
Name	SMG7 nonsense mediated mRNA decay factor
Location	1q25.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0250, EST1C, SGA56M, SMG-7
Ensembl gene	ENSG00000116698
Ensembl biotype	protein_coding
OMIM	610964
Entrez	9887

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 22 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000347615, ENST00000367537, ENST00000367538, ENST00000419169, ENST00000440812, ENST00000444547, ENST00000493045, ENST00000493609, ENST00000495321, ENST00000502375, ENST00000507406, ENST00000507469, ENST00000508461, ENST00000515829, ENST00000685780, ENST00000688051, ENST00000903599, ENST00000903600, ENST00000920481, ENST00000920482, ENST00000920483, ENST00000920484, ENST00000920485, ENST00000920486, ENST00000920487, ENST00000920488, ENST00000920489, ENST00000920490, ENST00000920491

RefSeq mRNA: 25 — MANE Select: NM_001375584 NM_001174061, NM_001331007, NM_001350219, NM_001350220, NM_001350221, NM_001375584, NM_001375585, NM_001394133, NM_001394134, NM_001394135, NM_001394136, NM_001394137, NM_001394138, NM_001394139, NM_001394140, NM_001394141, NM_001394142, NM_001394143, NM_001394144, NM_001394145, NM_001394146, NM_001394147, NM_173156, NM_201568, NM_201569

CCDS: CCDS1355, CCDS41445, CCDS53444, CCDS53445, CCDS81410, CCDS91123, CCDS91124

Canonical transcript exons

ENST00000688051 — 23 exons

Exon	Start	End
ENSE00000774233	183549208	183549288
ENSE00000774234	183549764	183549923
ENSE00000774235	183550751	183550921
ENSE00001067890	183545966	183546337
ENSE00001264233	183542076	183542502
ENSE00001444969	183547103	183547252
ENSE00002220399	183537145	183537215
ENSE00002230482	183529398	183529533
ENSE00002238994	183533164	183533326
ENSE00002265805	183533676	183533832
ENSE00002291476	183540984	183541103
ENSE00002302902	183544353	183544497
ENSE00002303913	183544930	183545312
ENSE00002309537	183538380	183538440
ENSE00003473695	183517688	183517820
ENSE00003500893	183526596	183526767
ENSE00003526626	183527956	183528027
ENSE00003558992	183551045	183551190
ENSE00003564244	183528892	183529042
ENSE00003668320	183512837	183512868
ENSE00003768423	183515874	183515991
ENSE00003811412	183472499	183472649
ENSE00003935849	183551818	183554191

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 94.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8237 / max 238.3430, expressed in 1812 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7151	11.4311	1794
7148	4.1232	1490
7150	1.0373	596
7146	0.9312	594
7145	0.6942	374
7149	0.6445	383
7147	0.4612	269
7144	0.4044	191
7143	0.0967	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	94.24	gold quality
tendon of biceps brachii	UBERON:0008188	94.23	gold quality
right uterine tube	UBERON:0001302	93.84	gold quality
right testis	UBERON:0004534	93.55	gold quality
left testis	UBERON:0004533	93.43	gold quality
testis	UBERON:0000473	93.24	gold quality
islet of Langerhans	UBERON:0000006	92.76	gold quality
cortical plate	UBERON:0005343	92.32	gold quality
colonic epithelium	UBERON:0000397	92.31	gold quality
globus pallidus	UBERON:0001875	92.30	gold quality
ganglionic eminence	UBERON:0004023	92.19	gold quality
postcentral gyrus	UBERON:0002581	91.99	gold quality
cerebellar cortex	UBERON:0002129	91.43	gold quality
cerebellar hemisphere	UBERON:0002245	91.38	gold quality
parietal lobe	UBERON:0001872	91.28	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.25	gold quality
ventricular zone	UBERON:0003053	91.24	gold quality
sural nerve	UBERON:0015488	91.13	gold quality
sperm	CL:0000019	91.08	gold quality
cerebellum	UBERON:0002037	91.06	gold quality
endometrium epithelium	UBERON:0004811	90.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.65	gold quality
lower esophagus mucosa	UBERON:0035834	90.46	gold quality
choroid plexus epithelium	UBERON:0003911	90.45	gold quality
ileal mucosa	UBERON:0000331	90.38	gold quality
rectum	UBERON:0001052	90.38	gold quality
male germ cell	CL:0000015	90.15	gold quality
cerebellar vermis	UBERON:0004720	89.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.76	gold quality
blood	UBERON:0000178	89.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.05

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 47.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 12)

• Data show that phosphorylated hUPF1, the human ortholog of UPF1/SMG-2, forms a complex with human orthologs of the Caenorhabditis elegans proteins SMG-5 and SMG-7. (PMID:14636577)
• The study demonstrates that SMG5-SMG7 and SMG6 exhibit different and non-overlapping modes of UPF1 recognition, thus pointing at distinguished roles in integrating the complex nonsense-mediated mRNA decay interaction network. (PMID:25013172)
• Depletion of nonsense-mediated mRNA decay pathway components Upf1, Smg5, and Smg7 led to increased levels of viral proteins and and virus release. (PMID:25211080)
• We showed SMG7 mRNA levels in peripheral blood mononuclear cells correlated inversely with antinuclear antibody titres of patients with systemic lupus erythematosus. The inverse relationship between levels of the risk allele-associated SMG7 mRNAs and antinuclear antibody suggested the novel contribution of mRNA surveillance pathway to systemic lupus erythematosus pathogenesis. (PMID:26783109)
• in gastric and colorectal cancers, study found SMG7 somatic mutations, which consisted of frameshift mutations by a deletion (c.2454delA (p. Met849fsx1) and a duplication (c.2545dupA (p. Met849Asnfsx10)) within the repeat (PMID:27771886)
• Transcriptome-wide identification of nonsense-mediated mRNA decay-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways. (PMID:27864472)
• Nonsense-mediated mRNA decay (NMD) substrates with PTCs undergo constitutive SMG6-dependent endocleavage, rather than SMG7-dependent exonucleolytic decay. In contrast, the turnover of NMD substrates containing upstream ORFs and long 3’ UTRs involves both SMG6- and SMG7-dependent endo- and exonucleolytic decay, respectively; extent to which SMG6 and SMG7 degrade NMD substrates is determined by the mRNA architecture. (PMID:28461625)
• Characterization of SMG7 14-3-3-like domain reveals phosphoserine binding-independent regulation of p53 and UPF1. (PMID:31511540)
• Nonsense-mediated decay factor SMG7 sensitizes cells to TNFalpha-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1. (PMID:32602581)
• Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress. (PMID:33820915)
• SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. (PMID:34172724)
• SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death. (PMID:35511739)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	smg7	ENSDARG00000060767
mus_musculus	Smg7	ENSMUSG00000042772
rattus_norvegicus	Smg7	ENSRNOG00000027962
caenorhabditis_elegans		WBGENE00004885

Paralogs (1): SMG5 (ENSG00000198952)

Protein

Protein identifiers

Nonsense-mediated mRNA decay factor SMG7 — Q92540 (reviewed: Q92540)

Alternative names: SMG-7 homolog

All UniProt accessions (8): Q92540, A0A8I5KSL3, A0A8I5KYV3, B1ALB4, D6R9J3, E9PBK2, E9PD50, E9PEK3

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation.

Subunit / interactions. Part of a complex that contains SMG5, SMG7, PPP2CA, a short isoform of UPF3A (isoform UPF3AS, but not isoform UPF3AL) and phosphorylated UPF1. Interacts with DHX34; the interaction is RNA-independent.

Subcellular location. Cytoplasm. Nucleus.

Isoforms (4)

UniProt ID	Names	Canonical?
Q92540-1	1	yes
Q92540-2	2
Q92540-4	4
Q92540-5	5

RefSeq proteins (25): NP_001167532, NP_001317936, NP_001337148, NP_001337149, NP_001337150, NP_001362513, NP_001362514, NP_001381062, NP_001381063, NP_001381064, NP_001381065, NP_001381066, NP_001381067, NP_001381068, NP_001381069, NP_001381070, NP_001381071, NP_001381072, NP_001381073, NP_001381074, NP_001381075, NP_001381076, NP_775179, NP_963862, NP_963863 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR018834	DNA/RNA-bd_Est1-type	Domain
IPR019458	Est1-like_N	Domain
IPR045153	Est1/Ebs1-like	Family

Pfam: PF10373, PF10374

UniProt features (73 total): helix 27, compositionally biased region 9, strand 6, region of interest 6, modified residue 5, splice variant 4, sequence conflict 4, turn 4, repeat 2, sequence variant 2, mutagenesis site 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1YA0	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92540-F1	59.45	0.34

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 2, 520, 624, 781, 897

Mutagenesis-validated functional residues (2):

Position	Phenotype
66	abolishes interaction with upf1; when associated with e-163.
163	abolishes interaction with upf1; when associated with e-66.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-975957	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-8953854	Metabolism of RNA
R-HSA-927802	Nonsense-Mediated Decay (NMD)

MSigDB gene sets: 283 (showing top): MORF_MTA1, AGGAAGC_MIR5163P, MORF_MBD4, MORF_RAB5A, MODULE_255, MAZ_Q6, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, MODULE_317, RACCACAR_AML_Q6, MORF_PSMC2, NFKB_Q6, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEAR_TRANSPORT

GO Biological Process (3): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), mRNA export from nucleus (GO:0006406), regulation of dephosphorylation (GO:0035303)

GO Molecular Function (4): telomeric repeat DNA binding (GO:0042162), protein phosphatase 2A binding (GO:0051721), telomerase RNA binding (GO:0070034), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), telomerase holoenzyme complex (GO:0005697), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Nonsense-Mediated Decay (NMD)	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
nuclear-transcribed mRNA catabolic process	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
dephosphorylation	1
regulation of metabolic process	1
sequence-specific DNA binding	1
protein phosphatase binding	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear protein-containing complex	1
catalytic complex	1
ribonucleoprotein complex	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1770 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SMG7	UPF1	Q92900	999
SMG7	SMG5	Q9UPR3	991
SMG7	UPF2	Q9HAU5	969
SMG7	SMG6	Q86US8	941
SMG7	UPF3A	Q9H1J1	930
SMG7	SMG1	Q96Q15	928
SMG7	UPF3B	Q9BZI7	917
SMG7	SMG9	Q9H0W8	895
SMG7	SULT1E1	P49888	875
SMG7	NMNAT2	Q9BZQ4	861
SMG7	SMG8	Q8ND04	837
SMG7	PNRC2	Q9NPJ4	792
SMG7	STAU1	O95793	768
SMG7	XRN1	Q8IZH2	730
SMG7	PABPC1	P11940	688

IntAct

92 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
UPF1	EIF4A3	psi-mi:“MI:0914”(association)	0.730
SMG1	MAGOH	psi-mi:“MI:0914”(association)	0.640
UPF1	SMG7	psi-mi:“MI:0915”(physical association)	0.620
SMG7	UPF1	psi-mi:“MI:0914”(association)	0.620
UPF1	SMG7	psi-mi:“MI:0914”(association)	0.620
RBM8A	PABPC1	psi-mi:“MI:0914”(association)	0.530
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
SMG5	SMG7	psi-mi:“MI:0914”(association)	0.500
SMG1	PABPC1	psi-mi:“MI:0914”(association)	0.500
SMG5	SMG7	psi-mi:“MI:0915”(physical association)	0.500
CWF19L1	SMG7	psi-mi:“MI:0915”(physical association)	0.400
GSK3A	SMG7	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	SMG7	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
NCBP3	SLC27A2	psi-mi:“MI:0914”(association)	0.350
UPF1	PABPC1	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
DAD1	PGRMC1	psi-mi:“MI:0914”(association)	0.350
DDOST	ATL3	psi-mi:“MI:0914”(association)	0.350
OST4	ATL3	psi-mi:“MI:0914”(association)	0.350
RPN2	APBB1	psi-mi:“MI:0914”(association)	0.350
UPF1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
CDC16	IFT56	psi-mi:“MI:0914”(association)	0.350
ABTB2	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (396): SMG7 (Affinity Capture-Western), SMG7 (Affinity Capture-MS), SMG7 (Affinity Capture-MS), SMG7 (Affinity Capture-MS), SMG7 (Affinity Capture-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS), SMG7 (Proximity Label-MS)

ESM2 similar proteins: A0A1L8GWK2, A0A571BF63, A0JMA8, A0JNE3, A2BGA0, A4IIG7, O00443, P13056, P24781, P28701, P28705, P43354, P45448, P48443, P51128, P51129, Q04913, Q06219, Q07917, Q08E53, Q09555, Q0GFF6, Q0IHW3, Q0VC20, Q1LVF3, Q26622, Q33E94, Q505F1, Q5BJR8, Q5FWP2, Q5R5Y4, Q5RAY1, Q5RCZ5, Q5REL6, Q5RJH6, Q61194, Q64287, Q68F67, Q6DHP9, Q7TNK1

Diamond homologs: A0A0R4IZ84, F1R7R1, P61406, Q5RAK6, Q86US8, Q92540, Q9FZ99, Q5RJH6, Q1LVF3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	5	32.0×	7e-05
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	6	24.9×	6e-05
Maturation of spike protein	5	16.4×	5e-04
Loss of Nlp from mitotic centrosomes	7	13.7×	7e-05
Loss of proteins required for interphase microtubule organization from the centrosome	7	13.7×	7e-05
AURKA Activation by TPX2	7	13.2×	8e-05
Maturation of DENV proteins	5	13.1×	1e-03
mRNA 3’-end processing	5	12.2×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	7	28.7×	3e-06
mRNA export from nucleus	7	18.1×	5e-05
protein N-linked glycosylation	5	11.6×	5e-03
mRNA splicing, via spliceosome	10	8.0×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	126
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6058 predictions. Top by Δscore:

Variant	Effect	Δscore
1:183472648:CGG:C	donor_loss	1.0000
1:183472650:G:A	donor_loss	1.0000
1:183472650:G:GG	donor_gain	1.0000
1:183472651:T:G	donor_loss	1.0000
1:183472652:GAGTG:G	donor_loss	1.0000
1:183509737:G:GT	donor_gain	1.0000
1:183512835:A:AG	acceptor_gain	1.0000
1:183512836:G:GG	acceptor_gain	1.0000
1:183512865:ACAG:A	donor_loss	1.0000
1:183512866:CAG:C	donor_loss	1.0000
1:183512868:GGT:G	donor_loss	1.0000
1:183512869:G:T	donor_loss	1.0000
1:183512870:T:A	donor_loss	1.0000
1:183515864:T:TA	acceptor_gain	1.0000
1:183515869:CTCA:C	acceptor_loss	1.0000
1:183515870:TCAG:T	acceptor_loss	1.0000
1:183515870:TCAGA:T	acceptor_gain	1.0000
1:183515871:CAGAT:C	acceptor_gain	1.0000
1:183515872:A:AG	acceptor_gain	1.0000
1:183515873:G:GA	acceptor_gain	1.0000
1:183515873:GA:G	acceptor_gain	1.0000
1:183515873:GAT:G	acceptor_gain	1.0000
1:183515873:GATTC:G	acceptor_gain	1.0000
1:183515975:A:T	donor_gain	1.0000
1:183515987:GATCT:G	donor_gain	1.0000
1:183515988:ATCT:A	donor_gain	1.0000
1:183515989:TCT:T	donor_gain	1.0000
1:183515989:TCTG:T	donor_loss	1.0000
1:183515990:CT:C	donor_gain	1.0000
1:183515991:TG:T	donor_loss	1.0000

AlphaMissense

7798 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:183515919:T:C	L36P	1.000
1:183515943:T:A	L44Q	1.000
1:183515943:T:C	L44P	1.000
1:183515943:T:G	L44R	1.000
1:183515955:T:C	L48S	1.000
1:183515955:T:G	L48W	1.000
1:183515963:G:C	A51P	1.000
1:183515964:C:A	A51D	1.000
1:183515967:T:C	L52S	1.000
1:183515975:A:G	K55E	1.000
1:183515976:A:T	K55I	1.000
1:183515981:G:A	E57K	1.000
1:183515982:A:T	E57V	1.000
1:183515983:A:C	E57D	1.000
1:183515983:A:T	E57D	1.000
1:183515986:G:C	Q58H	1.000
1:183515986:G:T	Q58H	1.000
1:183515991:T:A	L60H	1.000
1:183515991:T:C	L60P	1.000
1:183517689:T:A	W61R	1.000
1:183517689:T:C	W61R	1.000
1:183517690:G:C	W61S	1.000
1:183517691:G:C	W61C	1.000
1:183517691:G:T	W61C	1.000
1:183517694:T:A	N62K	1.000
1:183517694:T:G	N62K	1.000
1:183517699:C:A	A64D	1.000
1:183517701:T:A	F65I	1.000
1:183517701:T:C	F65L	1.000
1:183517702:T:C	F65S	1.000

dbSNP variants (sampled 300 via entrez): RS1000009573 (1:183523759 C>T), RS1000029693 (1:183521164 G>A), RS1000031755 (1:183534680 G>A), RS1000057379 (1:183526307 C>A), RS1000063351 (1:183509664 T>G), RS1000083747 (1:183534918 T>A), RS1000175622 (1:183540657 T>C), RS1000274875 (1:183503238 C>T), RS1000388544 (1:183513271 A>G), RS1000390764 (1:183482631 A>G), RS1000396014 (1:183540941 T>G), RS1000436031 (1:183496199 T>A,C), RS1000442776 (1:183474186 G>A), RS1000475927 (1:183516448 T>A), RS1000511982 (1:183486974 C>T)

Disease associations

OMIM: gene MIM:610964 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autoimmune disease	No Known Disease Relationship	Autosomal dominant

Mondo (1): autoimmune disease (MONDO:0007179)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003155_39	Systemic lupus erythematosus	3.000000e-88
GCST003156_19	Systemic lupus erythematosus	2.000000e-59
GCST003622_68	Systemic lupus erythematosus	2.000000e-59
GCST005023_43	Initial pursuit acceleration	2.000000e-06
GCST005752_111	Systemic lupus erythematosus	1.000000e-37

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008434	initial pursuit acceleration

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001327	Autoimmune Diseases	C20.111

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465340 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation, increases expression	1
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
ICG 001	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Vorinostat	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Estradiol	increases expression	1
Naphthoquinones	increases expression	1
Selenium	increases expression	1
Dronabinol	increases expression	1
Josamycin	affects response to substance	1
Cyclosporine	increases expression	1
Gold Compounds	decreases methylation, increases expression	1
Antirheumatic Agents	increases expression	1
Particulate Matter	decreases expression, increases abundance	1
Magnetite Nanoparticles	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5338436	Binding	Binding affinity to Smg7 (unknown origin) at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis	Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2KA	HAP1 SMG7 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00001658	PHASE4	COMPLETED	Amoxicillin for the Treatment of Pediatric Autoimmune Disorders Associated With Streptococcal Infections
NCT00820469	PHASE4	COMPLETED	Study of the Influence of Plasma Exchange on the Pharmacokinetics of Rituximab
NCT00862693	PHASE4	UNKNOWN	Calcitriol in the Treatment of Immunoglobulin A Nephropathy
NCT01065285	PHASE4	COMPLETED	Vaccination Against Influenza in Autoimmune Diseases
NCT04015596	PHASE4	TERMINATED	Trial of Naproxen Sodium for the Treatment of OCD in Children With PANDAS
NCT04127747	PHASE4	UNKNOWN	Efficacy of Individualized Rituximab in Maintaining Remission of Moderate and Severe Systemic Lupus Erythematosus
NCT04297592	PHASE4	ENROLLING_BY_INVITATION	Antibiotic Prophylaxis in High-Risk Arthroplasty Patients
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT06723548	PHASE4	NOT_YET_RECRUITING	Telitacicept and Low-dose Steroids in Refractory Myasthenia Gravis
NCT06964269	PHASE4	RECRUITING	Use of Acthar Gel Single-Dose Pre-Filled SelfJectTM Injector in Patients With Moderate-Severe Keratitis and Autoimmune Disease
NCT00001768	PHASE3	COMPLETED	Treatment of Childhood Onset Psychiatric Disorders With Intravenous Immunoglobulin (IVIg)
NCT00035308	PHASE3	COMPLETED	Safety and Efficacy Study of LJP 394 (Abetimus Sodium) to Treat Lupus Kidney Disease
NCT00351377	PHASE3	COMPLETED	Gastrointestinal and Health-related Quality of Life Outcomes in Patients With Autoimmune Diseases Treated With Mycophenolate
NCT00419419	PHASE3	COMPLETED	Phase III Study of a Topical Gel Formulation for Treatment and Prevention of Raynaud’s Phenomenon
NCT01004432	PHASE3	COMPLETED	Golimumab in Rheumatoid Arthritis Participants With an Inadequate Response to Etanercept (ENBREL) or Adalimumab (HUMIRA)
NCT01196091	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01205438	PHASE3	COMPLETED	A Study of LY2127399 in Participants With Systemic Lupus Erythematosus
NCT01210716	PHASE3	COMPLETED	Evaluation of Therapeutic Plasma Exchange (TPE) Procedure Using the AMICUS Device
NCT01281969	PHASE3	COMPLETED	Intravenous Immunoglobulin for PANDAS
NCT01488708	PHASE3	TERMINATED	On Open-Label Study in Participants With Systemic Lupus Erythematosus
NCT01601028	PHASE3	COMPLETED	Hydroxychloroquine Treatment of Dry Eyes in Patients With Primary Sjögren’s Syndrome
NCT02263703	PHASE3	COMPLETED	Immunogenicity of HPV Vaccine in Immunosuppressed Children
NCT03790293	PHASE3	COMPLETED	Clinical and Immunological Long-term Follow-up of Patients With Pemphigus Included in the RITUXIMAB 3 Trial
NCT05069714	PHASE3	COMPLETED	One or Two Week Methotrexate Discontinuation on Efficacy of Influenza Vaccination in Rheumatoid Arthritis.
NCT00010387	PHASE2	COMPLETED	Phase II Study of High-Dose Cyclophosphamide in Patients With Severe Autoimmune Hematologic Disease
NCT00716066	PHASE2	ACTIVE_NOT_RECRUITING	Autologous Stem Cell Transplant for Neurologic Autoimmune Diseases
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT01579110	PHASE2	UNKNOWN	Efficacy and Safety of Levamisole Combined With Standard Prednisolone in Warm Antibody Autoimmune Hemolytic Anemia.
NCT01778348	PHASE2	COMPLETED	Closing the Loop in Children and Adolescents With Type 1 Diabetes in the Home Setting
NCT02203682	PHASE2	UNKNOWN	Doxycycline Treatment in Mild Thyroid-Associated Ophthalmopathy
NCT02458196	PHASE2	UNKNOWN	Study of Treatment Response on IgG4 Related Disease (IgG4RD)
NCT02647866	PHASE2	COMPLETED	Study of a Monoclonal Antibody KHK4083 in Moderate Ulcerative Colitis
NCT02682511	PHASE2	ACTIVE_NOT_RECRUITING	Oral Ifetroban to Treat Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension
NCT03183869	PHASE2	TERMINATED	Fecal Microbial Transplantation in Relapsing Multiple Sclerosis Patients
NCT03239600	PHASE2	WITHDRAWN	A Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), Proof of Mechanism of GSK2618960 in Primary Sjögren’s Syndrome (pSS)
NCT03345004	PHASE2	COMPLETED	Diamyd Administered Into Lymph Nodes in Combination With Vitamin D in Type 1 Diabetes
NCT03644069	PHASE2	UNKNOWN	A Study of the Safety, Efficacy and Tolerability of Nexvax-2 in Patients With Celiac Disease (CeD)
NCT03651518	PHASE2	COMPLETED	Personalized Therapies in Inflammatory Complex Disease
NCT04186871	PHASE2	COMPLETED	Study to Assess Safety and Effectiveness of Branebrutinib Treatment in Participants With Active Systemic Lupus Erythematosus or Primary Sjögren’s Syndrome, or Branebrutinib Treatment Followed by Open-label Abatacept Treatment in Study Participants With Active Rheumatoid Arthritis
NCT04663204	PHASE2	ACTIVE_NOT_RECRUITING	A Study of the Safety and Activity of Sparsentan for the Treatment of Incident Patients With Immunoglobulin A Nephropathy