SNUPN

Summary

SNUPN (snurportin 1, HGNC:14245) is a protein-coding gene on chromosome 15q24.2, encoding Snurportin-1 (O95149). Functions as an U snRNP-specific nuclear import adapter. It is a common-essential gene (DepMap: required in 94.5% of cancer cell lines).

The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5’-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene.

Source: NCBI Gene 10073 — RefSeq curated summary.

At a glance

• Gene–disease (curated): muscular dystrophy, limb-girdle, autosomal recessive 29 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 63 total — 1 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 94.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_005701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14245
Approved symbol	SNUPN
Name	snurportin 1
Location	15q24.2
Locus type	gene with protein product
Status	Approved
Aliases	SNURPORTIN-1, Snurportin1
Ensembl gene	ENSG00000169371
Ensembl biotype	protein_coding
OMIM	607902
Entrez	10073

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 29 protein_coding, 1 retained_intron

ENST00000308588, ENST00000563793, ENST00000563875, ENST00000564086, ENST00000564644, ENST00000564675, ENST00000567134, ENST00000567437, ENST00000568078, ENST00000568162, ENST00000569817, ENST00000896163, ENST00000896164, ENST00000896165, ENST00000896166, ENST00000896167, ENST00000896168, ENST00000896169, ENST00000896170, ENST00000896171, ENST00000896172, ENST00000896173, ENST00000896174, ENST00000934023, ENST00000934024, ENST00000934025, ENST00000960222, ENST00000960223, ENST00000960224, ENST00000960225

RefSeq mRNA: 3 — MANE Select: NM_005701 NM_001042581, NM_001042588, NM_005701

CCDS: CCDS10281

Canonical transcript exons

ENST00000308588 — 9 exons

Exon	Start	End
ENSE00001208428	75605150	75605227
ENSE00001208446	75617408	75617552
ENSE00001310397	75609558	75609651
ENSE00001311880	75607216	75607313
ENSE00001328747	75625666	75625725
ENSE00003516395	75601138	75601218
ENSE00003561820	75620894	75621056
ENSE00003785811	75609890	75609994
ENSE00003895089	75598086	75598681

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 91.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.2960 / max 243.7578, expressed in 1789 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
150989	8.4360	1755
150988	2.3103	1277
150990	1.7771	1050
150987	0.8288	349
150991	0.4422	205
150993	0.2935	122
150992	0.2080	81

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	91.00	gold quality
right testis	UBERON:0004534	90.53	gold quality
testis	UBERON:0000473	90.48	gold quality
smooth muscle tissue	UBERON:0001135	89.89	gold quality
skeletal muscle tissue	UBERON:0001134	89.65	gold quality
muscle tissue	UBERON:0002385	89.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.55	gold quality
muscle of leg	UBERON:0001383	89.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.28	gold quality
skeletal muscle organ	UBERON:0014892	89.25	gold quality
gastrocnemius	UBERON:0001388	89.21	gold quality
right ovary	UBERON:0002118	88.38	gold quality
ovary	UBERON:0000992	88.09	gold quality
left ovary	UBERON:0002119	87.88	gold quality
fallopian tube	UBERON:0003889	87.80	gold quality
tibial nerve	UBERON:0001323	87.77	gold quality
endocervix	UBERON:0000458	87.70	gold quality
right adrenal gland	UBERON:0001233	87.57	gold quality
granulocyte	CL:0000094	87.52	gold quality
right adrenal gland cortex	UBERON:0035827	87.51	gold quality
islet of Langerhans	UBERON:0000006	87.49	gold quality
mucosa of transverse colon	UBERON:0004991	87.41	gold quality
stromal cell of endometrium	CL:0002255	87.37	gold quality
monocyte	CL:0000576	87.33	gold quality
leukocyte	CL:0000738	87.33	gold quality
myometrium	UBERON:0001296	87.18	gold quality
uterine cervix	UBERON:0000002	87.17	gold quality
lymph node	UBERON:0000029	87.17	gold quality
apex of heart	UBERON:0002098	87.15	gold quality
right lobe of thyroid gland	UBERON:0001119	87.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.05
E-GEOD-124858	no	203.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting SNUPN, 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-186-5P	99.99	70.83	3707
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-6858-3P	96.37	64.41	771
HSA-MIR-4515	95.70	65.73	716
HSA-MIR-1298-3P	94.05	64.84	620

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 94.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 7)

• SPN construct lacking the importin beta binding domain (IBB) localizes primarily to the nucleus rather than to the cytoplasm. (PMID:12095920)
• There is an interaction between the N- and C-terminal domains of SPN, suggesting an autoregulatory function similar to that of importin-alpha. (PMID:16030253)
• study presents the crystal structure of the SPN1.CRM1.RanGTP export complex at 2.5 angstrom resolution (where SPN1 is snurportin1 and RanGTP is guanosine 5’ triphosphate-bound Ran (PMID:19389996)
• the binding of dimethylated RNA-caps to snurportin 1 (PMID:19619473)
• analysis of interactions between CRM1 and the nuclear pore protein Tpr and snurportin (PMID:24722547)
• Results show that marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure. (PMID:26866982)
• SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. (PMID:38413582)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	snupn	ENSDARG00000008395
mus_musculus	Snupn	ENSMUSG00000055334
rattus_norvegicus	Snupn	ENSRNOG00000005426
drosophila_melanogaster	Snup	FBGN0259199
drosophila_melanogaster	CG42304	FBGN0259200
caenorhabditis_elegans		WBGENE00017746

Protein

Protein identifiers

Snurportin-1 — O95149 (reviewed: O95149)

Alternative names: RNA U transporter 1

All UniProt accessions (6): O95149, H3BQR0, H3BRI5, H3BSK1, H3BTA6, H3BUB4

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs.

Subunit / interactions. Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Component of a nuclear export receptor complex composed of KPNB1, Ran, SNUPN and XPO1. Found in a trimeric export complex with SNUPN, Ran and XPO1. Interacts (via IBB domain) with KPNB1; the interaction is direct. Interacts with DDX20, IPO7, SMN1, SNRPB and XPO1. Interacts directly with XPO1. Its interaction with XPO1 and binding to m3G-cap U snRNPs appears to be mutually exclusive. Can form homomers.

Subcellular location. Nucleus. Cytoplasm.

Disease relevance. Muscular dystrophy, limb-girdle, autosomal recessive 29 (LGMDR29) [MIM:620793] An autosomal recessive form of limb girdle muscular dystrophy, a group of genetically heterogeneous muscular disorders that share proximal muscle weakness as the major attribute. Most limb girdle muscular dystrophies present with elevated creatinine kinase and myopathic electromyographic features. Disease is usually progressive to a variable degree, ranging from minor disability to complete inability to ambulate, and can involve the large proximal muscles, as well as axial and facial muscles. Different disease forms may exhibit skeletal muscle hypertrophy, kyphoscoliosis, and contractures or involve other muscle groups and manifest with distal weakness, cardiomyopathy, dysphagia, and respiratory difficulties. LGMDR29 is characterized by muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. In rare cases, central nervous system involvement has been reported, including cataracts, developmental delay, and brain imaging abnormalities. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the snurportin family.

RefSeq proteins (3): NP_001036046, NP_001036053, NP_005692* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002652	Importin-a_IBB	Domain
IPR017336	Snurportin-1	Family
IPR024721	Snurportin-1_N	Domain
IPR047857	Snurportin1_C	Domain

Pfam: PF11538, PF21974

UniProt features (55 total): strand 18, helix 10, region of interest 6, sequence variant 5, mutagenesis site 4, site 3, modified residue 3, turn 3, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
2P8Q	X-RAY DIFFRACTION	2.35
1XK5	X-RAY DIFFRACTION	2.4
3GJX	X-RAY DIFFRACTION	2.5
3NBZ	X-RAY DIFFRACTION	2.8
2QNA	X-RAY DIFFRACTION	2.84
5DIS	X-RAY DIFFRACTION	2.85
3GB8	X-RAY DIFFRACTION	2.9
3NC0	X-RAY DIFFRACTION	2.9
3LWW	X-RAY DIFFRACTION	3.15
2Q5D	X-RAY DIFFRACTION	3.2
3NBY	X-RAY DIFFRACTION	3.42

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95149-F1	83.08	0.59

Functional residue map

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

Catalytic / active sites (3): 144 (interaction with m3g-cap structure); 276 (interaction with m3g-cap structure); 105 (interaction with m3g-cap structure)

Post-translational modifications (3): 1, 75, 350

Mutagenesis-validated functional residues (4):

Position	Phenotype
27	abolishes interaction with kpnb1 and m3g-cap u1 snrnp import receptor activity.
107	reduces binding to m3g-cap structure, interaction with xpo1 and snrnp import receptor activity.
203–207	reduces binding to m3g-cap structure.
276	reduces binding to m3g-cap structure, interaction with xpo1 and snrnp import receptor activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-191859	snRNP Assembly
R-HSA-194441	Metabolism of non-coding RNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 217 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, MODULE_352, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_NUCLEAR_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOBP_RNA_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, GOBP_PROTEIN_TETRAMERIZATION, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEAR_ENVELOPE, GOCC_NUCLEAR_PORE, MORF_FRK

GO Biological Process (6): RNA import into nucleus (GO:0006404), protein import into nucleus (GO:0006606), cytoskeleton organization (GO:0007010), protein complex oligomerization (GO:0051259), protein tetramerization (GO:0051262), snRNA import into nucleus (GO:0061015)

GO Molecular Function (4): RNA cap binding (GO:0000339), nuclear import signal receptor activity (GO:0061608), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), NLS-dependent protein nuclear import complex (GO:0042564), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of non-coding RNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
import into nucleus	3
cellular anatomical structure	3
RNA transport	1
intracellular protein transport	1
protein localization to nucleus	1
establishment of protein localization to organelle	1
organelle organization	1
protein-containing complex assembly	1
protein complex oligomerization	1
RNA import into nucleus	1
snRNA transport	1
RNA binding	1
nucleocytoplasmic carrier activity	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
nucleocytoplasmic transport complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNUPN	XPO1	O14980	994
SNUPN	DZIP3	Q86Y13	804
SNUPN	PHAX	Q9H814	803
SNUPN	MEX3B	Q6ZN04	774
SNUPN	RANGAP1	P46060	706
SNUPN	ATXN1	P54253	680
SNUPN	RANBP1	P43487	670
SNUPN	KPNB1	Q14974	663
SNUPN	DDX20	Q9UHI6	642
SNUPN	GEMIN2	O14893	615
SNUPN	KPNA2	P52292	608
SNUPN	GEMIN5	Q8TEQ6	579
SNUPN	COIL	P38432	573
SNUPN	GEMIN6	Q8WXD5	541
SNUPN	SNRPB	P14678	541

IntAct

53 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
XPO1	SNUPN	psi-mi:“MI:0915”(physical association)	0.820
XPO1	SNUPN	psi-mi:“MI:0407”(direct interaction)	0.820
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
SNRPA1	HTATSF1	psi-mi:“MI:0914”(association)	0.640
SNUPN	SNRPE	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
Xpo1	SNUPN	psi-mi:“MI:0407”(direct interaction)	0.590
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNUPN	TOE1	psi-mi:“MI:0914”(association)	0.530
GNAI1	GNAT3	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
SNUPN	HSPA2	psi-mi:“MI:0914”(association)	0.530
HSPA2	DNAJC13	psi-mi:“MI:0914”(association)	0.530
KPNB1	SNUPN	psi-mi:“MI:0407”(direct interaction)	0.440
RAN	SNUPN	psi-mi:“MI:0915”(physical association)	0.400
SNUPN	PLEC	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (62): SNUPN (Affinity Capture-MS), PDP1 (Affinity Capture-MS), TOE1 (Affinity Capture-MS), EGLN1 (Affinity Capture-MS), USP15 (Affinity Capture-MS), SNRPD1 (Affinity Capture-MS), SNUPN (Co-fractionation), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS), SNUPN (Affinity Capture-MS)

ESM2 similar proteins: A3KMI0, A8E7C5, A8WZU5, A8XYX3, B3MJV4, B4GH42, B4MV81, B5E0H4, B7Z0I7, O95149, O95251, P34511, P40997, P78587, Q01159, Q0E0Q3, Q10313, Q179T2, Q1SGF1, Q29FC1, Q2TBK8, Q5RBG4, Q5VZ89, Q5ZI43, Q5ZJY3, Q68FP5, Q6BT58, Q6C710, Q6CWR0, Q6FPH9, Q6FQ31, Q6FVD8, Q6IQX0, Q755D0, Q75CA4, Q7S9B6, Q7YTB0, Q80W37, Q80Y84, Q810T5

Diamond homologs: B7Z0I7, O95149, Q2TBK8, Q5ZI43, Q68FP5, Q80W37

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
MEX3B	“down-regulates quantity by destabilization”	SNUPN	polyubiquitination
SNUPN	“up-regulates quantity”	“U1 snRNP complex”	relocalization
SNUPN	“up-regulates quantity”	“U2 snRNP complex”	relocalization
SNUPN	“up-regulates quantity”	“U4/U6.U5 snRNP complex”	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Metabolism of non-coding RNA	5	90.6×	5e-08
snRNP Assembly	6	36.2×	3e-07
SARS-CoV-2 modulates host translation machinery	5	32.0×	6e-06
mRNA Splicing	9	28.2×	3e-09
CHD1 and CHD2 subfamily	8	24.9×	3e-08
mRNA Polyadenylation	9	22.6×	1e-08
Processing of Capped Intron-Containing Pre-mRNA	9	21.1×	2e-08
mRNA Splicing - Major Pathway	10	15.6×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	7	106.6×	7e-11
spliceosomal snRNP assembly	6	85.0×	9e-09
mRNA splicing, via spliceosome	9	20.1×	4e-08
RNA splicing	6	12.9×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	46
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4082548	NM_005701.4(SNUPN):c.848C>G (p.Ser283Ter)	Likely pathogenic

SpliceAI

1603 predictions. Top by Δscore:

Variant	Effect	Δscore
15:75598678:CTAC:C	acceptor_gain	1.0000
15:75598680:ACCT:A	acceptor_loss	1.0000
15:75605111:C:CA	donor_gain	1.0000
15:75605112:C:A	donor_gain	1.0000
15:75605148:A:AC	donor_gain	1.0000
15:75605149:C:CC	donor_gain	1.0000
15:75605228:C:CC	acceptor_gain	1.0000
15:75605232:C:CT	acceptor_gain	1.0000
15:75607314:C:CC	acceptor_gain	1.0000
15:75609647:GAACC:G	acceptor_gain	1.0000
15:75609650:CC:C	acceptor_gain	1.0000
15:75609650:CCCTG:C	acceptor_loss	1.0000
15:75609651:CC:C	acceptor_gain	1.0000
15:75609652:C:CA	acceptor_loss	1.0000
15:75609652:C:CC	acceptor_gain	1.0000
15:75609653:T:A	acceptor_loss	1.0000
15:75609995:C:CC	acceptor_gain	1.0000
15:75617401:CACTT:C	donor_loss	1.0000
15:75617402:ACTTA:A	donor_loss	1.0000
15:75617403:CTTAC:C	donor_loss	1.0000
15:75617404:TTAC:T	donor_loss	1.0000
15:75617405:TAC:T	donor_loss	1.0000
15:75617406:A:AC	donor_gain	1.0000
15:75617406:A:C	donor_loss	1.0000
15:75617407:C:CC	donor_gain	1.0000
15:75617407:CT:C	donor_gain	1.0000
15:75617407:CTT:C	donor_gain	1.0000
15:75617407:CTTG:C	donor_gain	1.0000
15:75617407:CTTGA:C	donor_gain	1.0000
15:75617434:T:TA	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000034559 (15:75610868 T>A), RS1000062518 (15:75603647 C>A,T), RS1000159412 (15:75616944 C>T), RS1000233971 (15:75617298 T>A,C), RS1000368626 (15:75616056 T>C), RS1000405632 (15:75610488 T>A), RS1000494445 (15:75615678 T>C), RS1000565158 (15:75615844 G>A), RS1000613388 (15:75623017 T>C), RS1001071960 (15:75627792 T>C), RS1001096411 (15:75622130 A>C), RS1001279218 (15:75603121 T>C), RS1001309983 (15:75603601 C>A), RS1001334614 (15:75614775 T>C), RS1001406690 (15:75614419 T>C)

Disease associations

OMIM: gene MIM:607902 | disease phenotypes: MIM:620793

GenCC curated gene-disease

Disease	Classification	Inheritance
muscular dystrophy, limb-girdle, autosomal recessive 29	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
SNUPN-related muscular dystrophy with or without multi-system involvement	Strong	AR

Mondo (1): muscular dystrophy, limb-girdle, autosomal recessive 29 (MONDO:0971171)

Orphanet (0):

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000519	Developmental cataract
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001284	Areflexia
HP:0001382	Joint hypermobility
HP:0001558	Decreased fetal movement
HP:0001638	Cardiomyopathy
HP:0002091	Restrictive ventilatory defect
HP:0002093	Respiratory insufficiency
HP:0002317	Unsteady gait
HP:0002505	Loss of ambulation
HP:0002650	Scoliosis
HP:0003121	Limb joint contracture
HP:0003200	Ragged-red muscle fibers
HP:0003306	Spinal rigidity
HP:0003307	Hyperlordosis
HP:0003327	Axial muscle weakness
HP:0003391	Gowers sign
HP:0003458	EMG: myopathic abnormalities
HP:0003551	Difficulty climbing stairs
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003707	Calf muscle pseudohypertrophy
HP:0004303	Abnormal muscle fiber morphology
HP:0007021	Pain insensitivity

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST012227_517	Hip circumference adjusted for BMI	3.000000e-08
GCST90000025_224	Appendicular lean mass	3.000000e-18

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3885569 (PROTEIN COMPLEX), CHEMBL3885594 (PROTEIN-PROTEIN INTERACTION)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
potassium chromate(VI)	decreases expression, affects cotreatment	2
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
manganese chloride	increases abundance, increases expression	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
K 7174	decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases expression	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1794461	Functional	PUBCHEM_BIOASSAY: qHTS Assay for Inhibitors of RanGTP induced Rango (Ran-regulated importin-beta cargo) - Importin beta complex dissociation. (Class of assay: confirmatory) [Related pubchem assays (depositor defined):AID540262]	PubChem BioAssay data set

Clinical trials (associated diseases)

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