SURF6
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Also known as FLJ30322RRP14
Summary
SURF6 (surfeit 6, HGNC:11478) is a protein-coding gene on chromosome 9q34.2, encoding Surfeit locus protein 6 (O75683). Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. It is a selective cancer dependency (DepMap: 83.9% of cell lines).
This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 6838 — RefSeq curated summary.
At a glance
- GWAS associations: 37
- Clinical variants (ClinVar): 89 total
- Cancer dependency (DepMap): dependent in 83.9% of screened cell lines
- MANE Select transcript:
NM_006753
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11478 |
| Approved symbol | SURF6 |
| Name | surfeit 6 |
| Location | 9q34.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ30322, RRP14 |
| Ensembl gene | ENSG00000148296 |
| Ensembl biotype | protein_coding |
| OMIM | 185642 |
| Entrez | 6838 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000372022, ENST00000468290, ENST00000929310, ENST00000929311
RefSeq mRNA: 2 — MANE Select: NM_006753
NM_001278942, NM_006753
CCDS: CCDS6962
Canonical transcript exons
ENST00000372022 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000984167 | 133334392 | 133334601 |
| ENSE00000984168 | 133333718 | 133333806 |
| ENSE00000984169 | 133332548 | 133332760 |
| ENSE00001456718 | 133328776 | 133332348 |
| ENSE00001456725 | 133336039 | 133336188 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.1050 / max 367.9243, expressed in 1812 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102980 | 20.8226 | 1800 |
| 102979 | 11.8616 | 1760 |
| 102978 | 1.0690 | 684 |
| 102981 | 0.3519 | 161 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 94.76 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.66 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.14 | gold quality |
| transverse colon | UBERON:0001157 | 87.10 | gold quality |
| muscle of leg | UBERON:0001383 | 86.58 | gold quality |
| substantia nigra | UBERON:0002038 | 86.29 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.15 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.73 | gold quality |
| granulocyte | CL:0000094 | 85.57 | gold quality |
| temporal lobe | UBERON:0001871 | 85.52 | gold quality |
| colon | UBERON:0001155 | 85.50 | gold quality |
| small intestine | UBERON:0002108 | 85.49 | gold quality |
| amygdala | UBERON:0001876 | 85.47 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.47 | gold quality |
| hypothalamus | UBERON:0001898 | 85.34 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.29 | gold quality |
| skin of leg | UBERON:0001511 | 85.26 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.25 | gold quality |
| apex of heart | UBERON:0002098 | 85.20 | gold quality |
| intestine | UBERON:0000160 | 85.19 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.17 | gold quality |
| zone of skin | UBERON:0000014 | 85.16 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.14 | gold quality |
| right ovary | UBERON:0002118 | 85.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 85.09 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 85.07 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 85.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.02 | gold quality |
| putamen | UBERON:0001874 | 84.93 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
32 targeting SURF6, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-145-3P | 99.33 | 67.66 | 764 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-4717-3P | 99.06 | 66.34 | 1072 |
| HSA-MIR-4716-5P | 98.82 | 68.57 | 1168 |
| HSA-MIR-7705 | 98.69 | 67.47 | 543 |
| HSA-MIR-5011-3P | 98.63 | 64.81 | 638 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
| HSA-MIR-5706 | 98.35 | 69.33 | 1463 |
| HSA-MIR-561-5P | 98.25 | 68.13 | 1365 |
| HSA-MIR-4303 | 98.01 | 68.13 | 2304 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
| HSA-MIR-4667-5P | 97.61 | 66.67 | 1683 |
| HSA-MIR-450B-3P | 97.56 | 66.12 | 512 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-6839-5P | 96.74 | 68.29 | 1088 |
| HSA-MIR-378J | 96.44 | 66.20 | 1020 |
| HSA-MIR-1266-3P | 96.23 | 66.36 | 778 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 83.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- we identified a consistently replicated loci at 9q34.2 (rs633862 near ABO and SURF6, P(meta) = 8.57 x 10(-7)) (P<0.05 in all three stages) (PMID:25134534)
- the panel of the GST-Surf6-dom protein partners, which were identified by mass-spectrometry, points to putative interactions of human SURF6 with a number of nuclear and nucleolar proteins of other functional groups (PMID:25898752)
- NPM1 and SURF6 form heterotypic liquid-like droplets in the nucleolus. (PMID:29483575)
- A Higher Level of Expression of the Nucleolar Protein SURF6 in Human Normal Activated Lymphocytes and in Lymphocytes of Patients with Lymphoproliferative Disorders. (PMID:33119830)
- Human nucleolar protein SURF6/RRP14 participates in early steps of pre-rRNA processing. (PMID:37450438)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | surf6 | ENSDARG00000035427 |
| mus_musculus | Surf6 | ENSMUSG00000036160 |
| rattus_norvegicus | Surf6 | ENSRNOG00000005031 |
| drosophila_melanogaster | Surf6 | FBGN0038746 |
| caenorhabditis_elegans | WBGENE00022765 |
Protein
Protein identifiers
Surfeit locus protein 6 — O75683 (reviewed: O75683)
All UniProt accessions (1): O75683
UniProt curated annotations — full annotation on UniProt →
Function. Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly.
Subcellular location. Nucleus. Nucleoplasm. Nucleolus.
Similarity. Belongs to the SURF6 family.
RefSeq proteins (2): NP_001265871, NP_006744* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007019 | SURF6 | Family |
| IPR029190 | Rrp14/SURF6_C | Domain |
Pfam: PF04935
UniProt features (25 total): compositionally biased region 9, sequence variant 5, region of interest 3, modified residue 3, sequence conflict 2, short sequence motif 2, chain 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75683-F1 | 75.53 | 0.41 |
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 (3): 74, 138, 229
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
GOBP_RIBOSOME_BIOGENESIS, MODULE_255, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MODULE_317, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, DANG_BOUND_BY_MYC, IVANOVA_HEMATOPOIESIS_INTERMEDIATE_PROGENITOR, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, LIU_SOX4_TARGETS_DN, MODULE_69, GOCC_NUCLEOLUS, DANG_REGULATED_BY_MYC_UP
GO Biological Process (3): ribosomal large subunit biogenesis (GO:0042273), ribosomal small subunit biogenesis (GO:0042274), ribosome biogenesis (GO:0042254)
GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515)
GO Cellular Component (5): granular component (GO:0001652), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ribonucleoprotein complex biogenesis | 3 |
| ribosome biogenesis | 2 |
| nucleic acid binding | 2 |
| cellular anatomical structure | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| nucleolus | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1810 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SURF6 | MED22 | Q15528 | 918 |
| SURF6 | NPM1 | P06748 | 857 |
| SURF6 | SURF2 | Q15527 | 840 |
| SURF6 | SURF1 | Q15526 | 798 |
| SURF6 | RRP15 | Q9Y3B9 | 774 |
| SURF6 | FBL | P22087 | 758 |
| SURF6 | RPL21 | P46778 | 752 |
| SURF6 | WDR74 | Q6RFH5 | 727 |
| SURF6 | GNL2 | Q13823 | 723 |
| SURF6 | EBNA1BP2 | Q99848 | 710 |
| SURF6 | RPF2 | Q9H7B2 | 683 |
| SURF6 | RPL7L1 | Q6DKI1 | 657 |
| SURF6 | SURF4 | O15260 | 649 |
| SURF6 | LMX1B | O60663 | 632 |
| SURF6 | RSL24D1 | Q9UHA3 | 612 |
IntAct
167 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| PTK2 | TGFB1I1 | psi-mi:“MI:0914”(association) | 0.680 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.590 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0914”(association) | 0.590 |
| AURKB | SEC16A | psi-mi:“MI:2364”(proximity) | 0.570 |
| SURF6 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SURF6 | RPL22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| E4F1 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL6 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB48 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF71 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-1 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | SURF6 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| SURF6 | VAPA | psi-mi:“MI:0915”(physical association) | 0.400 |
| SURF6 | VAPB | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (493): SURF6 (Affinity Capture-RNA), SURF6 (Affinity Capture-RNA), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), RRS1 (Co-fractionation), SURF6 (Co-fractionation), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS), SURF6 (Affinity Capture-MS)
ESM2 similar proteins: A5PJN1, O57594, O75683, P0DPK0, P53352, P70279, Q05B65, Q0VCY3, Q17QR4, Q2KIV0, Q2TBX7, Q3KRF3, Q3U155, Q3ZCI6, Q58CQ0, Q5D1Z3, Q5NVE2, Q5R939, Q5RGP9, Q5XIB5, Q5XIG5, Q5ZIH9, Q5ZMG5, Q640V3, Q641W3, Q66H19, Q6NS45, Q6PK04, Q7ZWE7, Q8BG17, Q8BK35, Q8C6C7, Q8CIL4, Q8NDD1, Q8NEF9, Q8R0K4, Q8R2N0, Q8TF30, Q96J88, Q9CR02
Diamond homologs: O57594, O75683, P36080, P70279, Q0VCY3, Q23525, Q9I8B0, Q54G38, Q9VDS6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 172 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 |
|---|---|---|---|
| Peptide chain elongation | 19 | 20.6× | 5e-18 |
| Viral mRNA Translation | 19 | 20.6× | 5e-18 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 19 | 20.4× | 5e-18 |
| Selenocysteine synthesis | 19 | 19.5× | 8e-18 |
| Eukaryotic Translation Termination | 19 | 19.5× | 8e-18 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 19 | 19.1× | 8e-18 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 19 | 19.1× | 8e-18 |
| Formation of a pool of free 40S subunits | 19 | 18.2× | 2e-17 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 20 | 23.0× | 4e-19 |
| positive regulation of viral genome replication | 5 | 18.1× | 9e-04 |
| ribosomal large subunit biogenesis | 6 | 16.5× | 3e-04 |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 14.9× | 4e-04 |
| translation | 23 | 14.7× | 7e-18 |
| ribosomal small subunit biogenesis | 10 | 14.1× | 5e-07 |
| rRNA processing | 15 | 13.2× | 1e-10 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 9.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
597 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:133332348:CCTGG:C | acceptor_loss | 1.0000 |
| 9:133332350:T:C | acceptor_loss | 1.0000 |
| 9:133332544:TCAC:T | donor_loss | 1.0000 |
| 9:133332545:CACC:C | donor_loss | 1.0000 |
| 9:133332546:A:AC | donor_gain | 1.0000 |
| 9:133332546:ACC:A | donor_loss | 1.0000 |
| 9:133332547:C:CC | donor_gain | 1.0000 |
| 9:133332547:CCTT:C | donor_gain | 1.0000 |
| 9:133332547:CCTTA:C | donor_gain | 1.0000 |
| 9:133332756:CTGCC:C | acceptor_gain | 1.0000 |
| 9:133332757:TGCC:T | acceptor_gain | 1.0000 |
| 9:133332758:GCC:G | acceptor_gain | 1.0000 |
| 9:133332759:CC:C | acceptor_gain | 1.0000 |
| 9:133332759:CCC:C | acceptor_gain | 1.0000 |
| 9:133332760:CC:C | acceptor_gain | 1.0000 |
| 9:133332761:C:CC | acceptor_gain | 1.0000 |
| 9:133332761:C:T | acceptor_gain | 1.0000 |
| 9:133333713:CCTA:C | donor_loss | 1.0000 |
| 9:133333714:CTAC:C | donor_loss | 1.0000 |
| 9:133333716:ACCT:A | donor_loss | 1.0000 |
| 9:133333717:CC:C | donor_loss | 1.0000 |
| 9:133333803:CCAT:C | acceptor_gain | 1.0000 |
| 9:133333804:CATC:C | acceptor_gain | 1.0000 |
| 9:133333805:ATCT:A | acceptor_loss | 1.0000 |
| 9:133333806:TCTGC:T | acceptor_loss | 1.0000 |
| 9:133333807:C:CC | acceptor_gain | 1.0000 |
| 9:133333807:CT:C | acceptor_loss | 1.0000 |
| 9:133333808:T:A | acceptor_loss | 1.0000 |
| 9:133334387:CTCA:C | donor_loss | 1.0000 |
| 9:133334389:CA:C | donor_loss | 1.0000 |
AlphaMissense
2305 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:133332145:C:A | W270C | 0.988 |
| 9:133332145:C:G | W270C | 0.988 |
| 9:133332034:C:A | W307C | 0.985 |
| 9:133332034:C:G | W307C | 0.985 |
| 9:133332554:G:C | F200L | 0.983 |
| 9:133332554:G:T | F200L | 0.983 |
| 9:133332556:A:G | F200L | 0.983 |
| 9:133332126:C:G | A277P | 0.978 |
| 9:133332147:A:G | W270R | 0.978 |
| 9:133332147:A:T | W270R | 0.978 |
| 9:133332127:C:A | K276N | 0.970 |
| 9:133332127:C:G | K276N | 0.970 |
| 9:133332110:A:G | I282T | 0.968 |
| 9:133332081:C:G | A292P | 0.965 |
| 9:133332710:T:A | R148S | 0.960 |
| 9:133332710:T:G | R148S | 0.960 |
| 9:133332110:A:C | I282S | 0.958 |
| 9:133332257:C:T | G233E | 0.955 |
| 9:133332258:C:A | G233W | 0.954 |
| 9:133333737:A:G | I125T | 0.954 |
| 9:133331906:A:G | I350T | 0.950 |
| 9:133332036:A:G | W307R | 0.949 |
| 9:133332036:A:T | W307R | 0.949 |
| 9:133332137:A:G | L273P | 0.949 |
| 9:133332146:C:G | W270S | 0.948 |
| 9:133332239:A:G | L239P | 0.948 |
| 9:133332067:C:A | K296N | 0.946 |
| 9:133332067:C:G | K296N | 0.946 |
| 9:133332120:C:A | G279C | 0.941 |
| 9:133332251:T:A | N235I | 0.940 |
dbSNP variants (sampled 300 via entrez): RS1000048160 (9:133337531 T>C), RS1000122228 (9:133336305 G>A,C,T), RS1000138401 (9:133329257 G>C), RS1000228948 (9:133332522 C>G,T), RS1000367033 (9:133328705 T>C), RS1000483231 (9:133328548 T>C), RS1000705740 (9:133329556 C>G), RS1000753728 (9:133336398 C>G), RS1000816913 (9:133329417 G>A,C,T), RS1001111930 (9:133328595 C>T), RS1001206222 (9:133334249 T>C), RS1001377200 (9:133338188 G>A), RS1001674312 (9:133333049 G>A), RS1001714486 (9:133329176 A>C,G,T), RS1001740482 (9:133329900 T>A,C)
Disease associations
OMIM: gene MIM:185642 | 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 |
|---|---|---|
| GCST001793_1 | Coagulation factor levels | 4.000000e-34 |
| GCST001793_4 | Coagulation factor levels | 1.000000e-128 |
| GCST002214_2 | Serum alkaline phosphatase levels | 3.000000e-27 |
| GCST002214_4 | Serum alkaline phosphatase levels | 1.000000e-56 |
| GCST002576_3 | Epithelial ovarian cancer | 9.000000e-07 |
| GCST003995_30 | Tonsillectomy | 9.000000e-09 |
| GCST005014_183 | Tonsillectomy | 8.000000e-09 |
| GCST008074_9 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-07 |
| GCST008077_40 | LDL cholesterol levels | 1.000000e-07 |
| GCST008077_52 | LDL cholesterol levels | 7.000000e-29 |
| GCST008077_8 | LDL cholesterol levels | 4.000000e-18 |
| GCST008078_100 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-114 |
| GCST008078_143 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-103 |
| GCST008078_84 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 3.000000e-07 |
| GCST008078_90 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-08 |
| GCST008079_100 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 8.000000e-09 |
| GCST008079_111 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-69 |
| GCST008079_37 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-86 |
| GCST008079_90 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 2.000000e-08 |
| GCST008083_128 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-06 |
| GCST008083_28 | Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 1.000000e-07 |
| GCST008086_101 | LDL cholesterol levels in current drinkers | 1.000000e-07 |
| GCST008086_116 | LDL cholesterol levels in current drinkers | 2.000000e-36 |
| GCST008086_12 | LDL cholesterol levels in current drinkers | 8.000000e-47 |
| GCST008086_52 | LDL cholesterol levels in current drinkers | 6.000000e-07 |
| GCST009731_15 | Blood protein levels in cardiovascular risk | 6.000000e-13 |
| GCST009731_40 | Blood protein levels in cardiovascular risk | 1.000000e-256 |
| GCST010241_123 | Apolipoprotein A1 levels | 1.000000e-33 |
| GCST010242_432 | HDL cholesterol levels | 3.000000e-21 |
| GCST010243_174 | Apolipoprotein B levels | 3.000000e-53 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0010623 | tissue factor measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004615 | apolipoprotein B measurement |
| EFO:0004847 | age at onset |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | decreases expression | 2 |
| Estradiol | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Lead | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | 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_B2HX | Abcam HeLa SURF6 KO | Cancer cell line | Female |
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): allergic disease, malaria, malignant epithelial tumor of ovary