SRSF4

Summary

SRSF4 (serine and arginine rich splicing factor 4, HGNC:10786) is a protein-coding gene on chromosome 1p35.3, encoding Serine/arginine-rich splicing factor 4 (Q08170). Plays a role in alternative splice site selection during pre-mRNA splicing.

Enables RNA binding activity. Involved in negative regulation of mRNA splicing, via spliceosome. Located in nuclear speck. Biomarker of Down syndrome; acute myeloid leukemia; clear cell renal cell carcinoma; and colon adenocarcinoma.

Source: NCBI Gene 6429 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_005626

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10786
Approved symbol	SRSF4
Name	serine and arginine rich splicing factor 4
Location	1p35.3
Locus type	gene with protein product
Status	Approved
Aliases	SRP75
Ensembl gene	ENSG00000116350
Ensembl biotype	protein_coding
OMIM	601940
Entrez	6429

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay

ENST00000373795, ENST00000466448, ENST00000477193, ENST00000497015, ENST00000605204, ENST00000622143, ENST00000634348, ENST00000691479, ENST00000870271, ENST00000870272, ENST00000870273, ENST00000870274, ENST00000969505

RefSeq mRNA: 1 — MANE Select: NM_005626 NM_005626

CCDS: CCDS333

Canonical transcript exons

ENST00000373795 — 6 exons

Exon	Start	End
ENSE00001042695	29150103	29150192
ENSE00001461590	29147743	29149226
ENSE00001911200	29181646	29181900
ENSE00003573522	29159374	29159486
ENSE00003642524	29160375	29160517
ENSE00003643122	29154696	29154910

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 98.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 40.0703 / max 271.3708, expressed in 1822 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11376	37.5492	1822
11378	1.3763	875
11377	0.4823	251
11375	0.4036	160
11374	0.2589	80

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.35	gold quality
middle frontal gyrus	UBERON:0002702	97.89	gold quality
paraflocculus	UBERON:0005351	97.76	gold quality
ventricular zone	UBERON:0003053	97.68	gold quality
body of uterus	UBERON:0009853	97.61	gold quality
endocervix	UBERON:0000458	97.57	gold quality
mucosa of stomach	UBERON:0001199	97.56	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.54	gold quality
left ovary	UBERON:0002119	97.50	gold quality
right ovary	UBERON:0002118	97.49	gold quality
ectocervix	UBERON:0012249	97.44	gold quality
right lung	UBERON:0002167	97.33	gold quality
left lobe of thyroid gland	UBERON:0001120	97.31	gold quality
left uterine tube	UBERON:0001303	97.30	gold quality
lower esophagus	UBERON:0013473	97.30	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.30	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.28	gold quality
ganglionic eminence	UBERON:0004023	97.19	gold quality
peritoneum	UBERON:0002358	97.18	gold quality
omental fat pad	UBERON:0010414	97.18	gold quality
right lobe of thyroid gland	UBERON:0001119	97.17	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.11	gold quality
upper lobe of left lung	UBERON:0008952	97.09	gold quality
skin of abdomen	UBERON:0001416	97.07	gold quality
skin of leg	UBERON:0001511	97.04	gold quality
transverse colon	UBERON:0001157	96.99	gold quality
upper lobe of lung	UBERON:0008948	96.99	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.98	gold quality
sigmoid colon	UBERON:0001159	96.91	gold quality
fundus of stomach	UBERON:0001160	96.81	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.80
E-MTAB-6524	no	213.83
E-HCAD-31	no	2.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting SRSF4, 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-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-5003-5P	99.61	69.13	1624

Literature-anchored findings (GeneRIF, showing 9)

• the c.1002-1110_1113delTAAG mutation creates a new intronic splicing regulatory element in intron 6b of the CFTR gene exclusively recognized by SRp75 (PMID:19759008)
• Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 5’-splice site of exon 3. (PMID:20685659)
• SRp75 inhibits splicing of tau exon 10 by binding to the CA repeat in the intronic splicing silencer downstream of the exon, and requires hnRNPG to exert its full regulatory effect on tau exon 10. (PMID:21723381)
• Many of the splicing alterations induced by cisplatin are caused by SRSF4 and they contribute to apoptosis in a process requires class I PI3K. (PMID:25884497)
• Review of the role of serine and arginine rich splicing factor 4 (SRSF4) in physiology, gene expression regulation and disease. (PMID:29789787)
• increased SRSF4 expression stimulates Fas exon 6 inclusion, and that reduced SRSF4 expression promotes exon 6 exclusion. (PMID:30376989)
• Multiple nuclear localization sequences in SRSF4 protein. (PMID:32050040)
• SRSF4 Confers Temozolomide Resistance of Glioma via Accelerating Double Strand Break Repair. (PMID:37014544)
• Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. (PMID:38396760)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	srsf4	ENSDARG00000105293
mus_musculus	Srsf4	ENSMUSG00000028911
rattus_norvegicus	Srsf4	ENSRNOG00000010007
drosophila_melanogaster	B52	FBGN0004587
caenorhabditis_elegans		WBGENE00004698

Paralogs (8): SRSF5 (ENSG00000100650), RSRC2 (ENSG00000111011), SRSF9 (ENSG00000111786), SRSF3 (ENSG00000112081), SRSF7 (ENSG00000115875), RSRP1 (ENSG00000117616), SRSF6 (ENSG00000124193), SRSF1 (ENSG00000136450)

Protein

Protein identifiers

Serine/arginine-rich splicing factor 4 — Q08170 (reviewed: Q08170)

Alternative names: Pre-mRNA-splicing factor SRP75, SRP001LB, Splicing factor, arginine/serine-rich 4

All UniProt accessions (3): Q08170, A0A0D9SEM4, S4R2X6

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10.

Subunit / interactions. Found in a pre-mRNA splicing complex with SRSF4/SFRS4, SRSF5/SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2. Interacts with PNN.

Subcellular location. Nucleus speckle.

Post-translational modifications. Extensively phosphorylated on serine residues in the RS domain.

Similarity. Belongs to the splicing factor SR family.

RefSeq proteins (1): NP_005617* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR047190	RRM2_SRSF4/6	Domain
IPR050374	RRT5_SRSF_SR	Family

Pfam: PF00076

UniProt features (34 total): compositionally biased region 12, modified residue 10, sequence variant 4, sequence conflict 3, domain 2, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08170-F1	56.17	0.00

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 (10): 78, 84, 288, 290, 292, 431, 446, 456, 458, 460

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-159236	Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72187	mRNA 3’-end processing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-72172	mRNA Splicing
R-HSA-72202	Transport of Mature Transcript to Cytoplasm
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 160 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GGTGTGT_MIR329, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOZGIT_ESR1_TARGETS_DN, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, RACCACAR_AML_Q6, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, GCM_PPP1CC, GOBP_RESPONSE_TO_INSULIN, AML_Q6, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (6): RNA splicing, via transesterification reactions (GO:0000375), regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA processing (GO:0006397), RNA splicing (GO:0008380), response to insulin (GO:0032868), negative regulation of mRNA splicing, via spliceosome (GO:0048025)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), sequence-specific mRNA binding (GO:1990825), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Processing of Capped Intron-Containing Pre-mRNA	3
Transport of Mature Transcript to Cytoplasm	1
mRNA Splicing	1
Metabolism of RNA	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of mRNA splicing, via spliceosome	2
RNA processing	2
binding	2
RNA splicing	1
alternative mRNA splicing, via spliceosome	1
mRNA metabolic process	1
response to peptide hormone	1
mRNA splicing, via spliceosome	1
negative regulation of RNA splicing	1
negative regulation of mRNA processing	1
nucleic acid binding	1
RNA binding	1
mRNA binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

2496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRSF4	SRRM1	Q8IYB3	858
SRSF4	SRRM2	Q9UQ35	824
SRSF4	SRSF11	Q05519	683
SRSF4	SRPK1	Q96SB4	649
SRSF4	U2AF2	P26368	628
SRSF4	TRA2A	Q13595	610
SRSF4	PNN	Q9H307	587
SRSF4	SRSF6	Q13247	575
SRSF4	SRSF3	P23152	573
SRSF4	SRPK2	P78362	564
SRSF4	HNRNPLL	Q8WVV9	553
SRSF4	HNRNPA1	P09651	545
SRSF4	SNRNP70	P08621	518
SRSF4	CLK3	P49761	492
SRSF4	SLU7	O95391	483
SRSF4	RBMX	P38159	483

IntAct

113 interactions, top by confidence:

A	B	Type	Score
SRSF4	RNPS1	psi-mi:“MI:0915”(physical association)	0.750
SRSF6	SRSF4	psi-mi:“MI:0915”(physical association)	0.670
TRA2B	SRSF4	psi-mi:“MI:0915”(physical association)	0.670
SRSF4	SRSF6	psi-mi:“MI:0915”(physical association)	0.670
SRRM2	SRSF4	psi-mi:“MI:0915”(physical association)	0.660
DHX8	AHCYL1	psi-mi:“MI:0914”(association)	0.640
THOC1	DDX39A	psi-mi:“MI:0914”(association)	0.640
SRSF4	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
SRSF4	JPH3	psi-mi:“MI:0915”(physical association)	0.560
SRSF4	SRSF1	psi-mi:“MI:0915”(physical association)	0.550
FYTTD1	UBA6	psi-mi:“MI:0914”(association)	0.530
THRAP3	HNRNPC	psi-mi:“MI:0914”(association)	0.480
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
SRSF4	SF3A2	psi-mi:“MI:0915”(physical association)	0.400
TICAM1	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
HTATSF1	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
SART1	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
SRSF4	PRPF38A	psi-mi:“MI:0915”(physical association)	0.370
SRSF2	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
SRSF10	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
ZDHHC17	SRSF4	psi-mi:“MI:0915”(physical association)	0.370
SNCA	SRRM1	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
DDX41	DDX39A	psi-mi:“MI:0914”(association)	0.350
CCNL1	SRSF3	psi-mi:“MI:0914”(association)	0.350
CCNL2	SRSF3	psi-mi:“MI:0914”(association)	0.350

BioGRID (352): SRSF4 (Two-hybrid), SRSF6 (Two-hybrid), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Proximity Label-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS), SRSF4 (Affinity Capture-MS)

ESM2 similar proteins: A2RVS6, A6QR16, O02008, O22315, O75494, P19018, P26686, P30352, P62995, P62996, P62997, Q01130, Q06A98, Q08170, Q10021, Q13595, Q15287, Q16629, Q1PDV2, Q28E41, Q3KPW1, Q3MHR5, Q3T106, Q3ZBT6, Q4R5N1, Q52KI8, Q5NVM8, Q5R1W5, Q5R5Q2, Q5XG24, Q5ZMJ9, Q62093, Q6AYK1, Q6PDU1, Q6PFR5, Q6PG31, Q84TH4, Q8BL97, Q8IYB3, Q8RWY7

Diamond homologs: A0A0D1C8Z4, A0A0D1DZT6, A2RVS6, A5DM21, A5DW14, B5FXN8, F1QB54, F4HT49, F4I3B3, F4JHI7, G3V6S8, O08583, O13845, O22315, O35326, O59670, O74400, P04147, P19682, P19683, P19684, P20965, P49313, P49314, P78814, P82277, P97855, Q04836, Q08170, Q08935, Q08937, Q09167, Q13242, Q13243, Q13247, Q13283, Q14498, Q1ZXC2, Q28FB9, Q32LC7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 134 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
Transport of Mature Transcript to Cytoplasm	10	40.5×	2e-12
mRNA 3’-end processing	13	27.2×	7e-14
RNA Polymerase II Transcription Termination	11	25.7×	2e-11
mRNA Splicing	21	24.5×	9e-22
Transport of Mature mRNA derived from an Intron-Containing Transcript	13	21.1×	2e-12
Processing of Capped Intron-Containing Pre-mRNA	24	21.0×	3e-23
mRNA Splicing - Major Pathway	28	16.3×	5e-24
mRNA Polyadenylation	17	15.9×	4e-14

GO biological processes:

GO term	Partners	Fold	FDR
regulation of alternative mRNA splicing, via spliceosome	14	28.5×	2e-14
mRNA splicing, via spliceosome	23	17.6×	2e-19
mRNA export from nucleus	7	17.2×	2e-05
ribosomal small subunit biogenesis	7	13.3×	1e-04
RNA splicing	18	13.2×	4e-13
regulation of RNA splicing	6	10.9×	1e-03
rRNA processing	9	10.6×	2e-05
mRNA processing	12	7.9×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1469 predictions. Top by Δscore:

Variant	Effect	Δscore
1:29149222:CCGAC:C	acceptor_gain	1.0000
1:29149223:CGAC:C	acceptor_gain	1.0000
1:29149223:CGACC:C	acceptor_gain	1.0000
1:29149224:GACC:G	acceptor_loss	1.0000
1:29149227:C:CC	acceptor_gain	1.0000
1:29149227:CTG:C	acceptor_loss	1.0000
1:29149228:T:A	acceptor_loss	1.0000
1:29150098:CATA:C	donor_loss	1.0000
1:29150099:ATAC:A	donor_loss	1.0000
1:29150102:C:CT	donor_loss	1.0000
1:29150104:TGG:T	donor_gain	1.0000
1:29150190:GAC:G	acceptor_gain	1.0000
1:29150191:AC:A	acceptor_gain	1.0000
1:29150192:CC:C	acceptor_gain	1.0000
1:29150193:C:CC	acceptor_gain	1.0000
1:29150193:CT:C	acceptor_loss	1.0000
1:29154693:TACCT:T	donor_loss	1.0000
1:29154695:C:CT	donor_loss	1.0000
1:29154906:TAATC:T	acceptor_gain	1.0000
1:29154907:AATC:A	acceptor_gain	1.0000
1:29154907:AATCC:A	acceptor_gain	1.0000
1:29154908:ATC:A	acceptor_gain	1.0000
1:29154908:ATCCT:A	acceptor_gain	1.0000
1:29154909:TC:T	acceptor_gain	1.0000
1:29154909:TCC:T	acceptor_loss	1.0000
1:29154909:TCCT:T	acceptor_gain	1.0000
1:29154910:CC:C	acceptor_gain	1.0000
1:29154911:C:CC	acceptor_gain	1.0000
1:29154911:C:T	acceptor_gain	1.0000
1:29154911:CTGA:C	acceptor_loss	1.0000

AlphaMissense

3251 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:29154759:A:G	L172S	1.000
1:29154765:A:C	I170S	1.000
1:29154765:A:G	I170T	1.000
1:29154765:A:T	I170N	1.000
1:29154770:T:A	R168S	1.000
1:29154770:T:G	R168S	1.000
1:29154771:C:A	R168I	1.000
1:29154771:C:G	R168T	1.000
1:29154772:T:C	R168G	1.000
1:29154775:C:A	G167W	1.000
1:29154780:A:T	V165D	1.000
1:29154795:A:G	L160S	1.000
1:29154807:G:T	A156D	1.000
1:29154808:C:G	A156P	1.000
1:29154833:A:C	F147L	1.000
1:29154833:A:T	F147L	1.000
1:29154834:A:C	F147C	1.000
1:29154834:A:G	F147S	1.000
1:29154835:A:C	F147V	1.000
1:29154835:A:G	F147L	1.000
1:29154835:A:T	F147I	1.000
1:29154838:C:T	E146K	1.000
1:29154840:A:T	I145N	1.000
1:29154846:C:A	G143V	1.000
1:29154846:C:T	G143E	1.000
1:29154847:C:A	G143W	1.000
1:29154847:C:G	G143R	1.000
1:29154847:C:T	G143R	1.000
1:29154867:T:C	H136R	1.000
1:29154868:G:C	H136D	1.000

dbSNP variants (sampled 300 via entrez): RS1000055520 (1:29151169 T>C), RS1000113300 (1:29153010 C>T), RS1000194742 (1:29180675 A>G), RS1000220318 (1:29182416 C>T), RS1000220986 (1:29180913 G>A), RS1000334956 (1:29158644 G>A), RS1000363566 (1:29176974 G>C), RS1000479729 (1:29176569 T>C,G), RS1000693298 (1:29175291 T>C), RS1000707716 (1:29163405 T>C), RS1000741690 (1:29163683 T>C), RS1000781334 (1:29171205 TCC>T), RS1000828560 (1:29151370 G>A,C), RS1000966664 (1:29163850 C>T), RS1000982707 (1:29170261 G>A,C)

Disease associations

OMIM: gene MIM:601940 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST003190_1	Schizophrenia	2.000000e-06
GCST007277_1	Tourette syndrome	2.000000e-06
GCST010536_11	Carotid plaque maximum area	1.000000e-06
GCST010537_9	Mean area of carotid plaque	5.000000e-07
GCST90002383_128	Hematocrit	2.000000e-14
GCST90002384_533	Hemoglobin	1.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006501	carotid plaque build
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
methylmercuric chloride	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
graphene oxide	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
butyraldehyde	decreases expression	1
coumarin	increases phosphorylation	1
artenimol	affects binding	1
garcinol	increases expression	1
apicidin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
GSK690693	affects cotreatment, decreases phosphorylation	1
NSC 689534	affects binding, increases expression	1
((5Z)5-(1,3-benzodioxol-5-yl)methylene-2-phenylamino-3,5-dihydro-4H-imidazol-4-one)	decreases reaction, increases phosphorylation, decreases phosphorylation	1
bisphenol AF	increases expression	1
SRPIN340	affects cotreatment, decreases phosphorylation	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Allergens	increases expression	1
Caffeine	increases phosphorylation	1
Copper	affects binding, increases expression	1
Ivermectin	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1QR	Abcam K-562 SRSF4 KO	Cancer cell line	Female
CVCL_D2MC	Abcam Raji SRSF4 KO	Cancer cell line	Male
CVCL_WQ60	Abcam Jurkat SRSF4 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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