SUGP2

Summary

SUGP2 (SURP and G-patch domain containing 2, HGNC:18641) is a protein-coding gene on chromosome 19p13, encoding SURP and G-patch domain-containing protein 2 (Q8IX01). May play a role in mRNA splicing.

This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 10147 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_001017392

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18641
Approved symbol	SUGP2
Name	SURP and G-patch domain containing 2
Location	19p13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0365
Ensembl gene	ENSG00000064607
Ensembl biotype	protein_coding
OMIM	607993
Entrez	10147

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 28 protein_coding, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000330854, ENST00000337018, ENST00000452918, ENST00000593795, ENST00000594445, ENST00000594773, ENST00000597095, ENST00000597163, ENST00000597280, ENST00000598202, ENST00000598240, ENST00000598863, ENST00000600239, ENST00000600377, ENST00000601879, ENST00000867061, ENST00000867062, ENST00000867063, ENST00000867064, ENST00000867065, ENST00000867066, ENST00000867067, ENST00000867068, ENST00000867069, ENST00000867070, ENST00000928453, ENST00000928454, ENST00000928455, ENST00000928456, ENST00000928457, ENST00000953719, ENST00000953720, ENST00000953721, ENST00000953722, ENST00000953723, ENST00000953724, ENST00000953725, ENST00000953726

RefSeq mRNA: 6 — MANE Select: NM_001017392 NM_001017392, NM_001321697, NM_001321698, NM_001321699, NM_001352071, NM_014884

CCDS: CCDS12392, CCDS82322

Canonical transcript exons

ENST00000452918 — 11 exons

Exon	Start	End
ENSE00001122603	19024619	19026226
ENSE00003091791	18990893	18993740
ENSE00003191676	19033437	19033517
ENSE00003474814	18995144	18995280
ENSE00003569662	19019109	19019229
ENSE00003608325	19004168	19004646
ENSE00003619020	19008317	19008428
ENSE00003626914	19030951	19031082
ENSE00003642880	19001613	19001674
ENSE00003659128	19009855	19010342
ENSE00003681854	18994366	18994486

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9635 / max 227.7979, expressed in 1810 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180119	17.8571	1806
180120	3.0902	1309
208737	0.0162	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	98.50	gold quality
left testis	UBERON:0004533	98.50	gold quality
cerebellar cortex	UBERON:0002129	98.47	gold quality
right testis	UBERON:0004534	98.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.47	gold quality
cerebellum	UBERON:0002037	98.28	gold quality
primary visual cortex	UBERON:0002436	98.10	gold quality
middle temporal gyrus	UBERON:0002771	97.66	gold quality
adenohypophysis	UBERON:0002196	97.60	gold quality
occipital lobe	UBERON:0002021	97.48	gold quality
cortical plate	UBERON:0005343	97.40	gold quality
ventricular zone	UBERON:0003053	97.39	gold quality
right frontal lobe	UBERON:0002810	97.37	gold quality
pituitary gland	UBERON:0000007	97.30	gold quality
left lobe of thyroid gland	UBERON:0001120	97.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.13	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.11	gold quality
testis	UBERON:0000473	97.09	gold quality
right lobe of thyroid gland	UBERON:0001119	97.05	gold quality
ganglionic eminence	UBERON:0004023	96.93	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.88	gold quality
paraflocculus	UBERON:0005351	96.86	gold quality
thyroid gland	UBERON:0002046	96.84	gold quality
nucleus accumbens	UBERON:0001882	96.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.81	gold quality
caudate nucleus	UBERON:0001873	96.67	gold quality
adult organism	UBERON:0007023	96.65	gold quality
putamen	UBERON:0001874	96.58	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.55	gold quality
middle frontal gyrus	UBERON:0002702	96.54	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-79	yes	1154.65
E-MTAB-8060	yes	55.60
E-CURD-112	yes	7.16
E-ANND-3	yes	6.79
E-CURD-135	no	705.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

73 targeting SUGP2, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4261	99.59	70.30	3415

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sugp1	ENSDARG00000075936
mus_musculus	Sugp2	ENSMUSG00000036054
rattus_norvegicus	Sugp2	ENSRNOG00000020269
drosophila_melanogaster	CG31550	FBGN0051550

Paralogs (1): SUGP1 (ENSG00000105705)

Protein

Protein identifiers

SURP and G-patch domain-containing protein 2 — Q8IX01 (reviewed: Q8IX01)

Alternative names: Arginine/serine-rich-splicing factor 14, Splicing factor, arginine/serine-rich 14

All UniProt accessions (7): Q8IX01, M0R065, M0R1Y3, M0R216, M0R2Y3, M0R2Z9, M0R3F6

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in mRNA splicing.

Subcellular location. Nucleus.

Tissue specificity. Detected in adult testis, and in fetal brain and kidney.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IX01-1	1	yes
Q8IX01-3	3
Q8IX01-4	4

RefSeq proteins (6): NP_001017392, NP_001308626, NP_001308627, NP_001308628, NP_001339000, NP_055699 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000061	Surp	Domain
IPR000467	G_patch_dom	Domain
IPR035967	SWAP/Surp_sf	Homologous_superfamily
IPR040169	SUGP1/2	Family

Pfam: PF01585, PF01805

UniProt features (43 total): modified residue 11, compositionally biased region 6, sequence variant 5, region of interest 5, helix 4, cross-link 3, repeat 2, splice variant 2, chain 1, domain 1, turn 1, strand 1, short sequence motif 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1X4P	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IX01-F1	53.86	0.06

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 (14): 7, 96, 224, 275, 277, 315, 573, 603, 754, 757, 863, 228, 305, 650

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): GGTGTGT_MIR329, MODULE_255, MORF_SNRP70, MODULE_317, MITSIADES_RESPONSE_TO_APLIDIN_DN, MYCMAX_01, GOBP_RNA_SPLICING, P300_01, BILBAN_B_CLL_LPL_DN, JAZAERI_BREAST_CANCER_BRCA1_VS_BRCA2_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_NUCLEAR_BODY, MODULE_69, chr19p13, KIM_WT1_TARGETS_DN

GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), RNA processing (GO:0006396)

GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleoplasm (GO:0005654), nuclear body (GO:0016604), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
binding	2
mRNA metabolic process	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
nucleic acid binding	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUGP2	MATR3	P43243	655
SUGP2	HNRNPM	P52272	633
SUGP2	SCAF11	Q99590	506
SUGP2	GIN1	Q9NXP7	492
SUGP2	SFSWAP	Q12872	479
SUGP2	ZBED11	P0CF97	462
SUGP2	ANKRD10	Q9NXR5	455
SUGP2	UBXN8	O00124	444
SUGP2	SUGP1	Q8IWZ8	436
SUGP2	OR10S1	Q8NGN2	379
SUGP2	SRSF7	Q16629	368
SUGP2	DACT3	Q96B18	365
SUGP2	C1orf50	Q9BV19	357
SUGP2	SRSF11	Q05519	352
SUGP2	GPALPP1	Q8IXQ4	348

IntAct

167 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
TUBG1	TUBG1	psi-mi:“MI:2364”(proximity)	0.760
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
AURKB	SEC16A	psi-mi:“MI:2364”(proximity)	0.570
BCOR	CBX4	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
GSPT2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
HNRNPC	CASC3	psi-mi:“MI:0914”(association)	0.530
PRR3	MRPS14	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
PTBP3	HNRNPC	psi-mi:“MI:0914”(association)	0.480
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
SUGP2	HMGN1	psi-mi:“MI:0915”(physical association)	0.400
COL5A1	SUGP2	psi-mi:“MI:0915”(physical association)	0.400
SUGP2	BLK	psi-mi:“MI:0915”(physical association)	0.400
GSK3A	SUGP2	psi-mi:“MI:0915”(physical association)	0.370
LZTR1	SUGP2	psi-mi:“MI:0915”(physical association)	0.370
Set	ZKSCAN1	psi-mi:“MI:0914”(association)	0.350
MATR3	BCLAF3	psi-mi:“MI:0914”(association)	0.350
HNRNPA1	MATR3	psi-mi:“MI:0914”(association)	0.350
Ptbp1	MATR3	psi-mi:“MI:0914”(association)	0.350
Pcdh1	SRI	psi-mi:“MI:0914”(association)	0.350
DDX41	DDX39A	psi-mi:“MI:0914”(association)	0.350

BioGRID (244): SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Proximity Label-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS), SUGP2 (Affinity Capture-MS)

ESM2 similar proteins: A1KXM5, A6NFR6, A6QQS3, A7KBS4, F1MJR8, O14513, O35668, O60284, P0C671, P54256, P54257, Q05860, Q0P670, Q12774, Q1RMQ5, Q1RMX6, Q2HR82, Q32LN6, Q32MG2, Q3B8N5, Q3URK1, Q3V0M2, Q5BI31, Q5DU28, Q63449, Q68FQ8, Q6AXV6, Q6PEX7, Q6ZPK7, Q7Z2Y5, Q80YD3, Q8BII1, Q8BUY8, Q8IWB6, Q8IX01, Q8IYM0, Q8IZ16, Q8N4L4, Q8NA61, Q8NDB6

Diamond homologs: A0JMV4, A4IGK4, A4L691, A5DSB5, B2GV05, P15771, P52756, P70501, P98175, Q0IIX9, Q17784, Q1RMU5, Q5ZII9, Q66J74, Q68FU8, Q6C233, Q6DDU9, Q7TN31, Q7TQC7, Q8CH02, Q8CH09, Q8IWZ8, Q8IX01, Q8N302, Q91YE7, Q94C11, Q96BK5, Q99KG3, Q9CZX5, Q9NW75, Q9UTK6, P78332, A0A0R4IEW8, A4FV72, A4RHN3, A5A6M3, A5E1Z4, A6NDE4, A6NEQ0, A7SKE9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 170 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	7	13.8×	7e-05
Transport of Mature mRNA derived from an Intron-Containing Transcript	7	10.7×	3e-04
mRNA Polyadenylation	10	8.8×	3e-05
mRNA Splicing	7	7.7×	2e-03
Processing of Capped Intron-Containing Pre-mRNA	9	7.4×	3e-04
mRNA Splicing - Major Pathway	13	7.1×	2e-05
Major pathway of rRNA processing in the nucleolus and cytosol	10	6.2×	3e-04
Dengue Virus-Host Interactions	13	5.9×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of mRNA splicing, via spliceosome	5	27.0×	2e-04
ribosomal large subunit biogenesis	5	15.6×	2e-03
mRNA stabilization	6	15.5×	3e-04
regulation of alternative mRNA splicing, via spliceosome	7	12.0×	3e-04
mRNA transport	6	11.1×	2e-03
mRNA processing	14	7.8×	3e-06
mRNA splicing, via spliceosome	12	7.7×	2e-05
RNA splicing	12	7.5×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	93
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3029 predictions. Top by Δscore:

Variant	Effect	Δscore
19:18994361:CATA:C	donor_loss	1.0000
19:18994362:ATAC:A	donor_loss	1.0000
19:18994363:TAC:T	donor_loss	1.0000
19:18994364:ACCT:A	donor_loss	1.0000
19:18994484:CCC:C	acceptor_gain	1.0000
19:18994485:CC:C	acceptor_gain	1.0000
19:18994485:CCC:C	acceptor_gain	1.0000
19:18994486:CC:C	acceptor_gain	1.0000
19:18994487:C:CC	acceptor_gain	1.0000
19:18995131:G:GA	donor_gain	1.0000
19:18995142:A:AC	donor_gain	1.0000
19:18995143:C:CC	donor_gain	1.0000
19:18995143:CA:C	donor_gain	1.0000
19:18995143:CACG:C	donor_gain	1.0000
19:18995157:C:CA	donor_gain	1.0000
19:18995162:ATGC:A	donor_gain	1.0000
19:18995170:T:A	donor_gain	1.0000
19:18995195:T:TA	donor_gain	1.0000
19:18995199:T:TA	donor_gain	1.0000
19:19001675:C:CC	acceptor_gain	1.0000
19:19009853:A:AC	donor_gain	1.0000
19:19009854:C:CC	donor_gain	1.0000
19:19012395:T:A	donor_gain	1.0000
19:19019227:CAG:C	acceptor_gain	1.0000
19:19030980:ACAG:A	donor_gain	1.0000
19:19030981:CAGC:C	donor_gain	1.0000
19:19031078:TTGCC:T	acceptor_gain	1.0000
19:19031082:CCTA:C	acceptor_gain	1.0000
19:19031083:C:CC	acceptor_gain	1.0000
19:19031083:CT:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000002236 (19:19031960 G>A), RS1000034789 (19:19032282 C>T), RS1000156347 (19:19026112 C>G), RS1000166045 (19:19014619 A>G), RS1000218289 (19:19008690 A>G), RS1000246592 (19:19032645 T>G), RS1000254854 (19:19026302 C>T), RS1000288148 (19:19011113 T>C), RS1000365332 (19:19020376 G>A), RS1000458164 (19:18992658 C>T), RS1000493282 (19:19005181 C>T), RS1000568828 (19:18999825 G>A), RS1000752689 (19:19033831 C>G,T), RS1000784911 (19:19002840 C>T), RS1000800274 (19:19033656 C>G,T)

Disease associations

OMIM: gene MIM:607993 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	5
trichostatin A	decreases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	affects cotreatment, decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
beta-methylcholine	affects expression	1
celastrol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
AM 251	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
LDN 193189	increases expression, affects cotreatment	1
NSC668394	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	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2HV	Abcam HeLa SUGP2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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