SARNP

Summary

SARNP (SAP domain containing ribonucleoprotein, HGNC:24432) is a protein-coding gene on chromosome 12q13.2, encoding SAP domain-containing ribonucleoprotein (P82979). Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. It is a selective cancer dependency (DepMap: 42.2% of cell lines).

This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 84324 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 38 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 42.2% of screened cell lines
• MANE Select transcript: NM_033082

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24432
Approved symbol	SARNP
Name	SAP domain containing ribonucleoprotein
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	THO1, Hcc-1, CIP29
Ensembl gene	ENSG00000205323
Ensembl biotype	protein_coding
OMIM	610049
Entrez	84324

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000336133, ENST00000546604, ENST00000552080, ENST00000552207, ENST00000552884, ENST00000552946, ENST00000851216, ENST00000851217, ENST00000918853, ENST00000918854, ENST00000918855, ENST00000918856, ENST00000918857, ENST00000918858

RefSeq mRNA: 1 — MANE Select: NM_033082 NM_033082

CCDS: CCDS8892

Canonical transcript exons

ENST00000336133 — 11 exons

Exon	Start	End
ENSE00002400242	55817666	55817724
ENSE00002416086	55757270	55757553
ENSE00003488948	55790567	55790592
ENSE00003505468	55800562	55800629
ENSE00003532899	55789075	55789143
ENSE00003548959	55796025	55796076
ENSE00003572485	55760551	55760640
ENSE00003582252	55794807	55794880
ENSE00003647952	55800854	55800900
ENSE00003676629	55794359	55794387
ENSE00003692108	55803629	55803728

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 97.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7546 / max 664.7939, expressed in 1796 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131435	26.7546	1796

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	97.97	gold quality
ventricular zone	UBERON:0003053	97.46	gold quality
tibial artery	UBERON:0007610	96.96	gold quality
popliteal artery	UBERON:0002250	96.95	gold quality
descending thoracic aorta	UBERON:0002345	96.91	gold quality
right testis	UBERON:0004534	96.88	gold quality
cortical plate	UBERON:0005343	96.84	gold quality
left testis	UBERON:0004533	96.78	gold quality
smooth muscle tissue	UBERON:0001135	96.74	gold quality
lower esophagus	UBERON:0013473	96.68	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.68	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.58	gold quality
aorta	UBERON:0000947	96.57	gold quality
right atrium auricular region	UBERON:0006631	96.55	gold quality
ectocervix	UBERON:0012249	96.52	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.49	gold quality
monocyte	CL:0000576	96.43	gold quality
calcaneal tendon	UBERON:0003701	96.43	gold quality
tibial nerve	UBERON:0001323	96.39	gold quality
thoracic aorta	UBERON:0001515	96.37	gold quality
right adrenal gland	UBERON:0001233	96.35	gold quality
ascending aorta	UBERON:0001496	96.35	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.35	gold quality
metanephros cortex	UBERON:0010533	96.34	gold quality
leukocyte	CL:0000738	96.32	gold quality
right adrenal gland cortex	UBERON:0035827	96.32	gold quality
islet of Langerhans	UBERON:0000006	96.28	gold quality
gastrocnemius	UBERON:0001388	96.25	gold quality
left coronary artery	UBERON:0001626	96.25	gold quality
endocervix	UBERON:0000458	96.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting SARNP, 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-4482-3P	99.98	72.50	3147
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-5589-3P	99.29	68.30	1443
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4423-3P	97.98	69.66	912
HSA-MIR-7106-3P	97.33	65.33	644
HSA-MIR-7973	96.48	65.54	502

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 42.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• CIP29 appears to be a new cytokine regulated protein involved in normal and cancer cell proliferation. (PMID:11922608)
• Hcc-1 plays a role in growth regulation and nucleic acids metabolism. (PMID:15338056)
• CIP29 physically and functionally associates with DDX39, suggesting their cooperation in the RNA metabolism. (PMID:17196963)
• Herein, the authors extend their previous research and provide evidence that ORF57 of human herpesvirus-8 interacts with CHTOP and CIP29, in contrast to POLDIP3. (PMID:27189710)
• SARNP, a participant in mRNA splicing and export, negatively regulates E-cadherin expression via interaction with pinin. (PMID:31313837)
• Structural basis for high-order complex of SARNP and DDX39B to facilitate mRNP assembly. (PMID:37578863)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sarnp	ENSDARG00000059357
mus_musculus	Sarnp	ENSMUSG00000078427
rattus_norvegicus	Sarnp	ENSRNOG00000030520
caenorhabditis_elegans		WBGENE00021813

Protein

Protein identifiers

SAP domain-containing ribonucleoprotein — P82979 (reviewed: P82979)

Alternative names: Cytokine-induced protein of 29 kDa, Nuclear protein Hcc-1, Proliferation-associated cytokine-inducible protein CIP29

All UniProt accessions (3): P82979, F8VS12, F8VZQ9

UniProt curated annotations — full annotation on UniProt →

Function. Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis. Component of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced mRNA and not with unspliced pre-mRNA. The TREX complex is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5’ end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway. Associates with DDX39B, which facilitates RNA binding of DDX39B and likely plays a role in mRNA export.

Subunit / interactions. Interacts with DDX39A. Interacts with FUS. Interacts (via the C-terminal domain) with DDX39B; the interaction is direct and facilitates RNA binding of DDX39B. Component of the transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO subcomplex; TREX seems to have dynamic structure involving ATP-dependent remodeling; in the complex interacts directly with DDX39B in a ATP-dependent manner which bridges it to ALYREF/THOC4.

Subcellular location. Nucleus. Nucleus speckle.

Tissue specificity. Low expression in spleen, liver, pancreas, testis, thymus, heart, and kidney. Increased levels are seen in hepatocellular carcinoma and pancreatic adenocarcinoma.

Induction. By EPO/erythropoietin.

Similarity. Belongs to the SAP domain-containing ribonucleoprotein family.

RefSeq proteins (1): NP_149073* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003034	SAP_dom	Domain
IPR036361	SAP_dom_sf	Homologous_superfamily
IPR052240	SAP_domain_ribonucleoprotein	Family

Pfam: PF02037

UniProt features (24 total): mutagenesis site 6, modified residue 4, sequence conflict 3, compositionally biased region 3, helix 2, region of interest 2, initiator methionine 1, chain 1, domain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DO1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P82979-F1	75.32	0.28

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 (4): 142, 163, 2, 10

Mutagenesis-validated functional residues (6):

Position	Phenotype
106–110	abolishes interaction with ddx39b; when associated with 123-a–a-127; 153-a–a-157; 177-a–a-181 and 203-a–a-207.
107–210	impairs interaction with ddx39b.
123–127	abolishes interaction with ddx39b; when associated with 106-a–a-110; 153-a–a-157; 177-a–a-181 and 203-a–a-207.
153–157	impairs interaction with ddx39b; when associated with 177-a–a-181 and 203-a–a-207. abolishes interaction with ddx39b;
177–181	impairs interaction with ddx39b; when associated with 153-a–a-157 and 203-a–a-207. abolishes interaction with ddx39b;
203–207	impairs interaction with ddx39b; when associated with 153-a–a-157 and 177-a–a-181. abolishes interaction with ddx39b;

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187	mRNA 3’-end processing
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-72202	Transport of Mature Transcript to Cytoplasm
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 141 (showing top): YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, RORA1_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_TRANSLATION, CREB_Q4, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, CREB_Q2_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, RYTTCCTG_ETS2_B

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), mRNA export from nucleus (GO:0006406), regulation of translation (GO:0006417), poly(A)+ mRNA export from nucleus (GO:0016973), mRNA transport (GO:0051028)

GO Molecular Function (4): DNA binding (GO:0003677), chromatin binding (GO:0003682), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (5): transcription export complex (GO:0000346), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), cytoplasmic ribonucleoprotein granule (GO:0036464)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Processing of Capped Intron-Containing Pre-mRNA	2
Transport of Mature Transcript to Cytoplasm	1
RNA Polymerase II Transcription	1
Metabolism of RNA	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	2
binding	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
RNA export from nucleus	1
gene expression	1
mRNA transport	1
translation	1
post-transcriptional regulation of gene expression	1
regulation of protein metabolic process	1
mRNA export from nucleus	1
RNA transport	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1
cytoplasm	1
ribonucleoprotein granule	1

Protein interactions and networks

STRING

1524 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SARNP	DDX39B	Q13838	995
SARNP	ALYREF	Q86V81	990
SARNP	DDX39A	O00148	977
SARNP	POLDIP3	Q9BY77	966
SARNP	FYTTD1	Q96QD9	963
SARNP	CHTOP	Q9Y3Y2	962
SARNP	THOC7	Q6I9Y2	855
SARNP	THOC3	Q96J01	846
SARNP	THOC1	Q96FV9	826
SARNP	THOC6	Q86W42	764
SARNP	THOC2	Q8NI27	763
SARNP	THOC5	Q13769	758
SARNP	MCM3AP	O60318	640
SARNP	ZC3H11A	O75152	640
SARNP	SRRT	Q9BXP5	618

IntAct

88 interactions, top by confidence:

A	B	Type	Score
SARNP	DDX39B	psi-mi:“MI:0915”(physical association)	0.800
SARNP	DDX39A	psi-mi:“MI:0915”(physical association)	0.740
DDX39A	SARNP	psi-mi:“MI:0915”(physical association)	0.740
SARNP	DDX39A	psi-mi:“MI:0914”(association)	0.740
DNAJC14	SARNP	psi-mi:“MI:0915”(physical association)	0.640
DNAJC14	SARNP	psi-mi:“MI:0914”(association)	0.640
SARNP	ZC3H11A	psi-mi:“MI:0914”(association)	0.610
SARNP	WFS1	psi-mi:“MI:0915”(physical association)	0.560
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
U2AF1	SARNP	psi-mi:“MI:0915”(physical association)	0.470
SARNP	U2AF2	psi-mi:“MI:0915”(physical association)	0.470
SARNP	U2AF1	psi-mi:“MI:2364”(proximity)	0.470
SARNP	U2AF2	psi-mi:“MI:2364”(proximity)	0.470
	AP3D1	psi-mi:“MI:0914”(association)	0.460
SARNP	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
HMMR	SARNP	psi-mi:“MI:0915”(physical association)	0.400
HTR1A	SARNP	psi-mi:“MI:0915”(physical association)	0.400
SARNP	DDAH2	psi-mi:“MI:0915”(physical association)	0.400
SARNP	CSNK2B	psi-mi:“MI:0915”(physical association)	0.370
THOC2		psi-mi:“MI:0914”(association)	0.350
THOC1	TARS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (213): SARNP (Two-hybrid), SARNP (Reconstituted Complex), SARNP (Affinity Capture-MS), SARNP (Two-hybrid), DDX39A (Two-hybrid), DDX39A (Affinity Capture-Western), DDX39A (Reconstituted Complex), SARNP (Proximity Label-MS), SARNP (Two-hybrid), SARNP (Affinity Capture-MS), SARNP (Affinity Capture-MS), SARNP (Affinity Capture-MS), SARNP (Affinity Capture-MS), SARNP (Affinity Capture-MS), SARNP (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K0D3, A0JPM9, A2AQ19, A2VDN6, B2GV05, O43395, O75391, O75822, P29540, P50478, P52756, P82979, Q02614, Q0VCU8, Q13123, Q15459, Q15650, Q1RMU5, Q2KIA6, Q2KJF9, Q32LD1, Q3UGC7, Q498U4, Q5NVI3, Q5R4V4, Q5R5F1, Q5R8D1, Q5RAD5, Q5ZJ85, Q5ZK25, Q5ZKA4, Q66HG8, Q66JS6, Q6GR00, Q6P320, Q7TNE3, Q8IXM2, Q8K4Z5, Q91YE7, Q922U1

Diamond homologs: O74871, P82979, Q5R4V4, Q9D1J3, Q498U4, Q6IMY8, Q8VEK3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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
mRNA 3’-end processing	12	37.5×	7e-14
Transport of Mature Transcript to Cytoplasm	5	30.2×	2e-05
Transport of Mature mRNA derived from an Intron-Containing Transcript	11	26.6×	4e-11
RNA Polymerase II Transcription Termination	6	20.9×	2e-05
Processing of Capped Intron-Containing Pre-mRNA	10	13.0×	3e-07
mRNA Polyadenylation	9	12.6×	2e-06
mRNA Splicing - Major Pathway	13	11.3×	1e-08
mRNA Splicing	6	10.5×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	55.7×	3e-06
mRNA export from nucleus	7	24.6×	3e-06
mRNA transport	7	21.9×	3e-06
mRNA processing	15	14.1×	1e-10
RNA splicing	12	12.6×	6e-08
negative regulation of translation	5	11.7×	7e-03
mRNA splicing, via spliceosome	10	10.9×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2093 predictions. Top by Δscore:

Variant	Effect	Δscore
12:55757551:TGC:T	acceptor_gain	1.0000
12:55757554:C:CC	acceptor_gain	1.0000
12:55760545:TTTTA:T	donor_loss	1.0000
12:55760546:TTTA:T	donor_loss	1.0000
12:55760546:TTTAC:T	donor_loss	1.0000
12:55760547:TTAC:T	donor_loss	1.0000
12:55760547:TTACC:T	donor_loss	1.0000
12:55760548:TA:T	donor_loss	1.0000
12:55760548:TAC:T	donor_loss	1.0000
12:55760549:ACC:A	donor_loss	1.0000
12:55760550:C:CA	donor_loss	1.0000
12:55760550:CCT:C	donor_gain	1.0000
12:55760550:CCTCT:C	donor_loss	1.0000
12:55760636:TCAGA:T	acceptor_gain	1.0000
12:55760637:CAGA:C	acceptor_gain	1.0000
12:55760637:CAGAC:C	acceptor_gain	1.0000
12:55760638:AGA:A	acceptor_gain	1.0000
12:55760639:GA:G	acceptor_gain	1.0000
12:55760641:C:CA	acceptor_loss	1.0000
12:55760641:C:CC	acceptor_gain	1.0000
12:55760641:CT:C	acceptor_loss	1.0000
12:55760642:T:C	acceptor_loss	1.0000
12:55760646:C:CT	acceptor_gain	1.0000
12:55760647:A:T	acceptor_gain	1.0000
12:55760652:C:CT	acceptor_gain	1.0000
12:55789142:ACCTA:A	acceptor_loss	1.0000
12:55789144:C:CA	acceptor_loss	1.0000
12:55789144:C:CC	acceptor_gain	1.0000
12:55789145:T:A	acceptor_loss	1.0000
12:55793499:AAGT:A	donor_gain	1.0000

AlphaMissense

1367 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:55757524:A:C	F207L	1.000
12:55757524:A:T	F207L	1.000
12:55757526:A:G	F207L	1.000
12:55757529:G:T	R206S	1.000
12:55757535:C:G	A204P	1.000
12:55757536:T:A	R203S	1.000
12:55757536:T:G	R203S	1.000
12:55757537:C:G	R203T	1.000
12:55760597:C:T	G182E	1.000
12:55760599:A:C	F181L	1.000
12:55760599:A:T	F181L	1.000
12:55760600:A:G	F181S	1.000
12:55760601:A:G	F181L	1.000
12:55760601:A:T	F181I	1.000
12:55760603:C:G	R180P	1.000
12:55760608:C:A	K178N	1.000
12:55760608:C:G	K178N	1.000
12:55760611:C:A	R177S	1.000
12:55760611:C:G	R177S	1.000
12:55760612:C:A	R177M	1.000
12:55760612:C:G	R177T	1.000
12:55760613:T:C	R177G	1.000
12:55760621:A:G	L174P	1.000
12:55789105:A:C	F157L	1.000
12:55789105:A:T	F157L	1.000
12:55789106:A:G	F157S	1.000
12:55789107:A:G	F157L	1.000
12:55789107:A:T	F157I	1.000
12:55789108:T:A	R156S	1.000
12:55789108:T:G	R156S	1.000

dbSNP variants (sampled 300 via entrez): RS1000010996 (12:55753097 C>T), RS1000013356 (12:55756738 A>G), RS1000048594 (12:55811796 A>G), RS1000186822 (12:55763426 C>T), RS1000244053 (12:55763825 G>A,C), RS1000297436 (12:55753558 T>G), RS1000298560 (12:55794441 G>A,T), RS1000305619 (12:55793931 TAA>T), RS1000323363 (12:55818037 A>C), RS1000423025 (12:55770096 A>G), RS1000450390 (12:55788294 A>G), RS1000541450 (12:55807037 C>T), RS1000607513 (12:55763509 C>T), RS1000638783 (12:55763317 T>G), RS1000670345 (12:55794982 A>G,T)

Disease associations

OMIM: gene MIM:610049 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myopathy (MONDO:0005336)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007095_122	Systolic blood pressure	6.000000e-07
GCST007097_159	Pulse pressure	4.000000e-08
GCST90013537_4	Kawasaki disease	3.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067115 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects localization, increases expression, affects cotreatment	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
bufalin	increases expression	1
4-phenylbutyric acid	decreases expression	1
pentabromodiphenyl ether	increases expression	1
chloropicrin	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Glyphosate	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzene	increases expression	1
Doxorubicin	decreases response to substance	1
Furaldehyde	affects cotreatment, affects localization, decreases expression, increases expression	1
Gold	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases 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
CHEMBL5652384	Binding	Binding affinity to human SARNP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3GG	Abcam HEK293T SARNP KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease
NCT03042286	Not specified	UNKNOWN	SAPhIRE Statin Adverse Drug Reaction
NCT03141749	Not specified	COMPLETED	Venous Thromboembolism in DM1
NCT03660969	Not specified	ACTIVE_NOT_RECRUITING	Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease
NCT03749538	Not specified	RECRUITING	Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT03751644	Not specified	COMPLETED	Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
NCT03998540	Not specified	UNKNOWN	Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
NCT04678635	Not specified	RECRUITING	Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT04881214	Not specified	UNKNOWN	COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
NCT04941079	Not specified	UNKNOWN	Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study
NCT05599568	Not specified	RECRUITING	Repeated Bout Effect i Neuromuscular Diseases