SUGP1
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Also known as F23858DKFZp434E2216RBP
Summary
SUGP1 (SURP and G-patch domain containing 1, HGNC:18643) is a protein-coding gene on chromosome 19p13.11, encoding SURP and G-patch domain-containing protein 1 (Q8IWZ8). Plays a role in pre-mRNA splicing. It is a selective cancer dependency (DepMap: 88.4% of cell lines).
SF4 is a member of the SURP family of splicing factors.
Source: NCBI Gene 57794 — RefSeq curated summary.
At a glance
- GWAS associations: 37
- Clinical variants (ClinVar): 110 total
- Cancer dependency (DepMap): dependent in 88.4% of screened cell lines
- MANE Select transcript:
NM_172231
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18643 |
| Approved symbol | SUGP1 |
| Name | SURP and G-patch domain containing 1 |
| Location | 19p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | F23858, DKFZp434E2216, RBP |
| Ensembl gene | ENSG00000105705 |
| Ensembl biotype | protein_coding |
| OMIM | 607992 |
| Entrez | 57794 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 12 protein_coding, 6 nonsense_mediated_decay, 4 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000247001, ENST00000535070, ENST00000585444, ENST00000585763, ENST00000586387, ENST00000587119, ENST00000587716, ENST00000588580, ENST00000588731, ENST00000589144, ENST00000590439, ENST00000591007, ENST00000591350, ENST00000592188, ENST00000606725, ENST00000859768, ENST00000859769, ENST00000859770, ENST00000859771, ENST00000859772, ENST00000859773, ENST00000940551, ENST00000940552, ENST00000940553, ENST00000970039
RefSeq mRNA: 1 — MANE Select: NM_172231
NM_172231
CCDS: CCDS12399
Canonical transcript exons
ENST00000247001 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003481906 | 19276033 | 19276674 |
| ENSE00003495904 | 19276947 | 19277076 |
| ENSE00003564708 | 19320463 | 19320509 |
| ENSE00003571981 | 19296989 | 19297344 |
| ENSE00003574777 | 19302265 | 19302388 |
| ENSE00003585861 | 19303724 | 19303847 |
| ENSE00003599070 | 19279213 | 19279390 |
| ENSE00003633176 | 19277734 | 19277879 |
| ENSE00003634654 | 19280185 | 19280291 |
| ENSE00003637318 | 19278690 | 19278796 |
| ENSE00003679580 | 19316422 | 19316593 |
| ENSE00003707713 | 19303348 | 19303448 |
| ENSE00003708907 | 19305849 | 19306076 |
| ENSE00003710688 | 19310097 | 19310200 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 94.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.9634 / max 199.4382, expressed in 1766 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180139 | 7.9634 | 1766 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 94.64 | gold quality |
| right testis | UBERON:0004534 | 94.32 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.31 | gold quality |
| left testis | UBERON:0004533 | 94.20 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.04 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.94 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.65 | gold quality |
| granulocyte | CL:0000094 | 93.59 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.41 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.00 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.70 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.50 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.35 | gold quality |
| sural nerve | UBERON:0015488 | 92.26 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.21 | gold quality |
| cerebellum | UBERON:0002037 | 92.15 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.14 | gold quality |
| apex of heart | UBERON:0002098 | 92.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.05 | gold quality |
| endothelial cell | CL:0000115 | 91.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.90 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.79 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.78 | gold quality |
| testis | UBERON:0000473 | 91.66 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.63 | gold quality |
| right uterine tube | UBERON:0001302 | 91.63 | gold quality |
| adrenal gland | UBERON:0002369 | 91.40 | gold quality |
| pituitary gland | UBERON:0000007 | 91.32 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.27 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IL1B | Activation |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 88.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- Our results strongly support a role for SUGP1 as a novel regulator of cholesterol metabolism and suggest that it contributes to the relationship between rs10401969 and plasma cholesterol (PMID:27206982)
- SUGP1 loss is a common defect of spliceosomes with disease-causing SF3B1 mutations in myelodysplastic syndromes and cancers. (PMID:31474574)
- Mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation is associated with cancer. (PMID:32332164)
- Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers. (PMID:33057152)
- DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer. (PMID:36459648)
- Splicing quality control mediated by DHX15 and its G-patch activator SUGP1. (PMID:37805921)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sugp1 | ENSDARG00000075936 |
| mus_musculus | Sugp1 | ENSMUSG00000011306 |
| rattus_norvegicus | Sugp1 | ENSRNOG00000052111 |
| drosophila_melanogaster | CG31550 | FBGN0051550 |
Paralogs (1): SUGP2 (ENSG00000064607)
Protein
Protein identifiers
SURP and G-patch domain-containing protein 1 — Q8IWZ8 (reviewed: Q8IWZ8)
Alternative names: RNA-binding protein RBP, Splicing factor 4
All UniProt accessions (7): Q8IWZ8, B4DVK3, K7ELR6, K7EM86, K7ES12, K7ESM0, V9GZ08
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in pre-mRNA splicing.
Subunit / interactions. Component of the spliceosome.
Subcellular location. Nucleus.
Tissue specificity. Detected in adult testis and heart, and in adult and fetal brain, kidney and skeletal muscle.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IWZ8-1 | 1, RNA-binding protein splice variant A | yes |
| Q8IWZ8-2 | 2, RNA-binding protein splice variant B |
RefSeq proteins (1): NP_757386* (*=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 (30 total): modified residue 7, region of interest 5, helix 4, compositionally biased region 3, repeat 2, splice variant 2, sequence variant 2, chain 1, sequence conflict 1, turn 1, domain 1, short sequence motif 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8EJM | X-RAY DIFFRACTION | 1.8 |
| 8GXL | X-RAY DIFFRACTION | 2.4 |
| 8GXM | X-RAY DIFFRACTION | 2.81 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IWZ8-F1 | 65.38 | 0.07 |
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 (7): 132, 256, 326, 409, 411, 414, 485
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
| R-HSA-72172 | mRNA Splicing |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 102 (showing top):
GGTGTGT_MIR329, CACCAGC_MIR138, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, TGTGTGA_MIR377, GOBP_RNA_SPLICING, ATGCTGG_MIR338, REACTOME_MRNA_SPLICING, CAAGGAT_MIR362, CCAGGTT_MIR490, CCCAGAG_MIR326, CAGCCTC_MIR4855P, GTGTGAG_MIR342, REACTOME_METABOLISM_OF_RNA, LIU_SOX4_TARGETS_UP
GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), RNA processing (GO:0006396)
GO Molecular Function (4): RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| mRNA 3’-end processing | 1 |
| Dengue Virus Infection | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |
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 |
| RNA binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SUGP1 | SRSF1 | Q07955 | 816 |
| SUGP1 | SF3B1 | O75533 | 658 |
| SUGP1 | U2AF2 | P26368 | 586 |
| SUGP1 | NR2C2AP | Q86WQ0 | 533 |
| SUGP1 | GPATCH1 | Q9BRR8 | 509 |
| SUGP1 | ANKRD30BL | A7E2S9 | 488 |
| SUGP1 | U2SURP | O15042 | 480 |
| SUGP1 | TAAR6 | Q96RI8 | 448 |
| SUGP1 | SUGP2 | Q8IX01 | 436 |
| SUGP1 | SLC35E1 | Q96K37 | 434 |
| SUGP1 | YJEFN3 | A6XGL0 | 430 |
| SUGP1 | CILP2 | Q8IUL8 | 427 |
| SUGP1 | TM6SF2 | Q9BZW4 | 418 |
| SUGP1 | NICN1 | Q9BSH3 | 411 |
| SUGP1 | RAD51 | Q06609 | 403 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SUGP1 | U2AF2 | psi-mi:“MI:0915”(physical association) | 0.820 |
| U2AF2 | SUGP1 | psi-mi:“MI:0915”(physical association) | 0.820 |
| U2AF2 | SUGP1 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| YEATS4 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.790 |
| COMMD4 | VPS26C | psi-mi:“MI:0914”(association) | 0.730 |
| GATAD2A | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| SUGP1 | RBM17 | psi-mi:“MI:0915”(physical association) | 0.630 |
| SUGP1 | SF3B1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SUGP1 | SNRPB2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| COMTD1 | IFRD1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM177A1 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| EZH1 | EPOP | psi-mi:“MI:0914”(association) | 0.530 |
| SUGP1 | DHX15 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SUGP1 | RBM10 | psi-mi:“MI:0915”(physical association) | 0.510 |
| DHX15 | SUGP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| RBM10 | SUGP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SF3A2 | SUGP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Dync1li1 | SSR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Mis12 | psi-mi:“MI:0914”(association) | 0.350 | |
| ZWINT | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB5C | psi-mi:“MI:0914”(association) | 0.350 | |
| LDHD | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (186): SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), DHX15 (Co-fractionation), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS)
ESM2 similar proteins: A0M8S4, A0M8T5, A1A5Q0, B9EJA2, E1BTG2, E7F7X0, E9QA62, F7AEX0, O35867, O88665, Q00PJ1, Q02225, Q07DV1, Q07DW4, Q07DX4, Q07DY4, Q07E15, Q07E28, Q07E41, Q09YG9, Q09YI1, Q09YJ3, Q09YK4, Q09YM8, Q0VAK6, Q108T9, Q2IBA2, Q2IBD4, Q2IBE6, Q2IBF7, Q2IBF8, Q2QL82, Q2QLA2, Q2QLB3, Q2QLF8, Q2QLG9, Q2V2M9, Q3UHZ5, Q3UQU0, Q4V8E4
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, A2VDN6, B9DHA6, G1SK22, O13900, O14399, O15042, P05759, P0C016, P0C030
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 126 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 Splicing | 22 | 25.4× | 2e-23 |
| mRNA Polyadenylation | 27 | 25.0× | 1e-28 |
| mRNA Splicing - Minor Pathway | 10 | 23.6× | 7e-10 |
| Processing of Capped Intron-Containing Pre-mRNA | 24 | 20.8× | 2e-23 |
| CHD1 and CHD2 subfamily | 18 | 20.6× | 3e-17 |
| mRNA Splicing - Major Pathway | 33 | 19.0× | 3e-31 |
| Dengue Virus-Host Interactions | 26 | 12.5× | 9e-20 |
| SARS-CoV-2 modulates host translation machinery | 5 | 11.8× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 14 | 76.0× | 1e-21 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 33.3× | 4e-05 |
| spliceosomal complex assembly | 6 | 31.4× | 4e-06 |
| RNA splicing, via transesterification reactions | 5 | 27.1× | 1e-04 |
| spliceosomal snRNP assembly | 5 | 25.3× | 1e-04 |
| mRNA splicing, via spliceosome | 28 | 22.3× | 2e-27 |
| mRNA transport | 6 | 13.7× | 3e-04 |
| RNA splicing | 17 | 13.0× | 3e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
110 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 87 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2464 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19276942:CGTA:C | donor_loss | 1.0000 |
| 19:19276943:GTACC:G | donor_loss | 1.0000 |
| 19:19276945:A:AC | donor_gain | 1.0000 |
| 19:19276945:A:AT | donor_loss | 1.0000 |
| 19:19276946:C:CC | donor_gain | 1.0000 |
| 19:19276982:T:TA | donor_gain | 1.0000 |
| 19:19277072:TGCCC:T | acceptor_gain | 1.0000 |
| 19:19277073:GCCC:G | acceptor_gain | 1.0000 |
| 19:19277074:CCC:C | acceptor_gain | 1.0000 |
| 19:19277074:CCCC:C | acceptor_gain | 1.0000 |
| 19:19277075:CC:C | acceptor_gain | 1.0000 |
| 19:19277075:CCC:C | acceptor_gain | 1.0000 |
| 19:19277076:CC:C | acceptor_gain | 1.0000 |
| 19:19277077:C:CC | acceptor_gain | 1.0000 |
| 19:19277077:C:T | acceptor_gain | 1.0000 |
| 19:19277080:C:CT | acceptor_gain | 1.0000 |
| 19:19277731:CACT:C | donor_loss | 1.0000 |
| 19:19277732:A:AC | donor_gain | 1.0000 |
| 19:19277733:C:CG | donor_gain | 1.0000 |
| 19:19277733:CT:C | donor_gain | 1.0000 |
| 19:19277733:CTT:C | donor_gain | 1.0000 |
| 19:19277733:CTTG:C | donor_gain | 1.0000 |
| 19:19277785:T:TA | donor_gain | 1.0000 |
| 19:19277789:T:TA | donor_gain | 1.0000 |
| 19:19277801:T:TA | donor_gain | 1.0000 |
| 19:19277875:CCCTC:C | acceptor_gain | 1.0000 |
| 19:19277876:CCTCC:C | acceptor_gain | 1.0000 |
| 19:19277877:CTC:C | acceptor_gain | 1.0000 |
| 19:19277880:C:CC | acceptor_gain | 1.0000 |
| 19:19278685:CTCA:C | donor_loss | 1.0000 |
AlphaMissense
4267 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19276656:A:G | Y644H | 1.000 |
| 19:19276663:T:A | R641S | 1.000 |
| 19:19276663:T:G | R641S | 1.000 |
| 19:19276664:C:A | R641I | 1.000 |
| 19:19276664:C:G | R641T | 1.000 |
| 19:19276669:A:C | N639K | 1.000 |
| 19:19276669:A:T | N639K | 1.000 |
| 19:19276948:A:G | L637P | 1.000 |
| 19:19276953:G:C | N635K | 1.000 |
| 19:19276953:G:T | N635K | 1.000 |
| 19:19276961:G:C | R633G | 1.000 |
| 19:19276962:G:C | F632L | 1.000 |
| 19:19276962:G:T | F632L | 1.000 |
| 19:19276963:A:G | F632S | 1.000 |
| 19:19276964:A:G | F632L | 1.000 |
| 19:19276970:A:C | Y630D | 1.000 |
| 19:19276970:A:G | Y630H | 1.000 |
| 19:19276972:G:T | A629D | 1.000 |
| 19:19276975:A:G | L628P | 1.000 |
| 19:19276980:C:A | M626I | 1.000 |
| 19:19276980:C:G | M626I | 1.000 |
| 19:19276980:C:T | M626I | 1.000 |
| 19:19276981:A:C | M626R | 1.000 |
| 19:19276981:A:G | M626T | 1.000 |
| 19:19276981:A:T | M626K | 1.000 |
| 19:19276983:C:A | R625S | 1.000 |
| 19:19276983:C:G | R625S | 1.000 |
| 19:19276984:C:A | R625M | 1.000 |
| 19:19276984:C:G | R625T | 1.000 |
| 19:19276990:C:G | R623P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000082428 (19:19315558 C>T), RS1000111035 (19:19307292 C>A,T), RS1000131551 (19:19278465 C>G,T), RS1000149750 (19:19296562 G>C), RS1000325109 (19:19283579 C>A,T), RS1000395995 (19:19305414 A>G), RS1000416418 (19:19284380 G>T), RS1000434564 (19:19304811 G>A), RS1000492082 (19:19309812 T>C), RS1000522234 (19:19294079 T>C), RS1000605085 (19:19296845 G>C), RS1000697065 (19:19315055 G>A), RS1000755385 (19:19288229 G>A), RS1000782455 (19:19300002 T>C), RS1000879557 (19:19282693 A>G)
Disease associations
OMIM: gene MIM:607992 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
37 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000807_10 | LDL cholesterol | 1.000000e-11 |
| GCST002149_11 | Schizophrenia | 3.000000e-09 |
| GCST002539_89 | Schizophrenia | 4.000000e-10 |
| GCST002632_1 | Hepatic lipid content in extreme obesity | 3.000000e-07 |
| GCST003681_18 | C-reactive protein levels or triglyceride levels (pleiotropy) | 2.000000e-32 |
| GCST006612_60 | LDL cholesterol | 8.000000e-42 |
| GCST006803_88 | Schizophrenia | 7.000000e-12 |
| GCST006867_82 | Type 2 diabetes | 4.000000e-12 |
| GCST007294_16 | Body fat distribution (trunk fat ratio) | 2.000000e-07 |
| GCST007294_35 | Body fat distribution (trunk fat ratio) | 1.000000e-10 |
| GCST007295_166 | Body fat distribution (leg fat ratio) | 2.000000e-11 |
| GCST007295_22 | Body fat distribution (leg fat ratio) | 3.000000e-07 |
| GCST008103_10 | Bipolar disorder | 1.000000e-09 |
| GCST008115_2 | Bipolar I disorder | 3.000000e-09 |
| GCST008116_4 | Bipolar II disorder | 4.000000e-06 |
| GCST008529_12 | Tea consumption | 7.000000e-09 |
| GCST008745_23 | Estimated glomerular filtration rate in non-diabetics | 4.000000e-09 |
| GCST009363_38 | Triglyceride levels x short total sleep time interaction (2df test) | 5.000000e-32 |
| GCST009364_19 | Triglyceride levels x long total sleep time interaction (2df test) | 5.000000e-30 |
| GCST009365_25 | LDL cholesterol levels x short total sleep time interaction (2df test) | 1.000000e-22 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
| GCST010243_160 | Apolipoprotein B levels | 2.000000e-28 |
| GCST010243_219 | Apolipoprotein B levels | 3.000000e-121 |
| GCST010244_41 | Triglyceride levels | 2.000000e-48 |
| GCST010245_192 | LDL cholesterol levels | 9.000000e-37 |
| GCST010245_214 | LDL cholesterol levels | 2.000000e-158 |
| GCST010703_335 | Brain morphology (MOSTest) | 3.000000e-10 |
| GCST010861_5 | Nonalcoholic steatohepatitis | 1.000000e-07 |
| GCST010988_19 | Adult body size | 2.000000e-13 |
| GCST011051_5 | Postprandial triglyceride levels | 8.000000e-09 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0006506 | hepatic lipid content measurement |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004341 | body fat distribution |
| EFO:0009963 | bipolar I disorder |
| EFO:0009964 | bipolar II disorder |
| EFO:0010091 | tea consumption measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0005689 | non-high density lipoprotein cholesterol measurement |
| EFO:0007984 | platelet component distribution width |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10401969 | SUGP1 | 0.00 | 0 |
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Lead | affects expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| quercitrin | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Methapyrilene | decreases methylation | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): alcoholic liver cirrhosis, metabolic dysfunction-associated steatohepatitis, metabolic dysfunction-associated steatotic liver disease