SUSD2
gene geneOn this page
Also known as BK65A6.2FLJ22778W5C5
Summary
SUSD2 (sushi domain containing 2, HGNC:30667) is a protein-coding gene on chromosome 22q11.23, encoding Sushi domain-containing protein 2 (Q9UGT4). May be a cytokine receptor for GPR15LG.
Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of cell division. Located in plasma membrane.
Source: NCBI Gene 56241 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 201 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- MANE Select transcript:
NM_019601
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30667 |
| Approved symbol | SUSD2 |
| Name | sushi domain containing 2 |
| Location | 22q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BK65A6.2, FLJ22778, W5C5 |
| Ensembl gene | ENSG00000099994 |
| Ensembl biotype | protein_coding |
| OMIM | 615825 |
| Entrez | 56241 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000358321, ENST00000463101, ENST00000886473, ENST00000886474, ENST00000886475, ENST00000886476, ENST00000886477, ENST00000959321, ENST00000959322
RefSeq mRNA: 1 — MANE Select: NM_019601
NM_019601
CCDS: CCDS13824
Canonical transcript exons
ENST00000358321 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000651656 | 24181487 | 24181595 |
| ENSE00000651658 | 24183495 | 24183646 |
| ENSE00000651659 | 24184136 | 24184303 |
| ENSE00000651665 | 24186257 | 24186415 |
| ENSE00000651666 | 24187202 | 24187450 |
| ENSE00000651667 | 24187571 | 24187843 |
| ENSE00001657986 | 24183057 | 24183267 |
| ENSE00001889241 | 24188412 | 24189106 |
| ENSE00003537597 | 24184766 | 24184940 |
| ENSE00003584084 | 24185486 | 24185571 |
| ENSE00003619757 | 24187959 | 24188135 |
| ENSE00003634241 | 24188225 | 24188327 |
| ENSE00003643487 | 24186016 | 24186159 |
| ENSE00003658555 | 24185094 | 24185295 |
| ENSE00003692948 | 24185661 | 24185929 |
Expression profiles
Bgee: expression breadth ubiquitous, 197 present calls, max score 99.28.
FANTOM5 (CAGE): breadth broad, TPM avg 10.6688 / max 1522.5114, expressed in 868 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191366 | 10.6539 | 868 |
| 191365 | 0.0149 | 3 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.28 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.24 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.49 | gold quality |
| right lung | UBERON:0002167 | 96.33 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.53 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.40 | gold quality |
| right coronary artery | UBERON:0001625 | 94.39 | gold quality |
| popliteal artery | UBERON:0002250 | 93.65 | gold quality |
| tibial artery | UBERON:0007610 | 93.61 | gold quality |
| lung | UBERON:0002048 | 92.65 | gold quality |
| left coronary artery | UBERON:0001626 | 92.22 | gold quality |
| coronary artery | UBERON:0001621 | 91.69 | gold quality |
| upper arm skin | UBERON:0004263 | 91.68 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 91.52 | gold quality |
| adult organism | UBERON:0007023 | 91.25 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.11 | gold quality |
| visceral pleura | UBERON:0002401 | 89.85 | gold quality |
| aorta | UBERON:0000947 | 89.30 | gold quality |
| skin of leg | UBERON:0001511 | 87.38 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 86.92 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.74 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.32 | gold quality |
| zone of skin | UBERON:0000014 | 86.11 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 85.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 85.50 | gold quality |
| upper leg skin | UBERON:0004262 | 84.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.50 | gold quality |
| endocervix | UBERON:0000458 | 83.92 | gold quality |
| thoracic aorta | UBERON:0001515 | 83.83 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.71 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 679.45 |
| E-MTAB-10018 | yes | 136.25 |
| E-ANND-3 | yes | 23.25 |
| E-GEOD-36552 | no | 133.79 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting SUSD2, 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-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-4260 | 98.78 | 65.37 | 848 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-496 | 98.66 | 69.80 | 931 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-5572 | 98.55 | 65.84 | 970 |
Literature-anchored findings (GeneRIF, showing 16)
- Authors found significantly fewer CD4 tumor infiltrating lymphocytes in breast tumors expressing Susd2. (PMID:23131994)
- Two new susceptibility loci for amyotrophic lateral sclerosis in the Han Chinese population in chromosome 1, CAMK1G and chromosome 22, SUSD2 and CABIN1. (PMID:23624525)
- No evidence of association between polymorphisms in SUSD2 and sporadic amyotrophic lateral sclerosis in Han Chinese (PMID:25677198)
- Low SUSD2 expression is associated with renal cell carcinoma and lung cancer. (PMID:26815503)
- Tumors with high levels of SUSD2 staining contained 2-fold more tumor-associated macrophages, mainly of the M2 pro-angiogenic phenotype (PMID:28475599)
- suggest that SUSD2 counteracts senescence and cell death and is thus a potential chemotherapeutic target in human endometrial cancer (PMID:28841682)
- SUSD2 was identified as a candidate biomarker for hepatic recurrences of gastric cancer by transcriptome analysis. Patients with high SUSD2 expression were more likely to experience shorter disease-free and overall survival. Also, SUSD2 may reflect the malignant potential of gastric cancer and predict hepatic recurrences after curative resection. (PMID:30259711)
- platelet activation and binding to high-grade serous ovarian carcinoma cells was inversely correlated with the presence of SUSD2. This represents one of the first tumor proteins known to provide differential platelet interaction based on protein status. (PMID:30335544)
- TPM4 aggravates the malignant progression of hepatocellular carcinoma through negatively regulating SUSD2. (PMID:32432739)
- Genetic variants in SUSD2 are associated with the risk of ischemic heart disease. (PMID:32620384)
- Cultured cardiac fibroblasts and myofibroblasts express Sushi Containing Domain 2 and assemble a unique fibronectin rich matrix. (PMID:33453237)
- CircTOP2A acts as a ceRNA for miR346 and contributes to glioma progression via the modulation of sushi domaincontaining 2. (PMID:33537815)
- LncRNA small nucleolar RNA host gene 16 (SNHG16) silencing protects lipopolysaccharide (LPS)-induced cell injury in human lung fibroblasts WI-38 through acting as miR-141-3p sponge. (PMID:33836533)
- miR-141-3p promotes retinoblastoma progression via inhibiting sushi domain-containing protein 2. (PMID:35259051)
- CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and Metastasis by Suppressing the Transcription of SUSD2. (PMID:35894945)
- The dual role of SUSD2 in cancer development. (PMID:38897441)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | SUSD2 | ENSDARG00000101452 |
| mus_musculus | Susd2 | ENSMUSG00000006342 |
| rattus_norvegicus | Susd2 | ENSRNOG00000033389 |
| drosophila_melanogaster | mesh | FBGN0051004 |
| caenorhabditis_elegans | WBGENE00010047 | |
| caenorhabditis_elegans | WBGENE00010540 | |
| caenorhabditis_elegans | WBGENE00011175 |
Paralogs (2): MUC4 (ENSG00000145113), RTL9 (ENSG00000243978)
Protein
Protein identifiers
Sushi domain-containing protein 2 — Q9UGT4 (reviewed: Q9UGT4)
All UniProt accessions (2): Q9UGT4, A0A140VJW3
UniProt curated annotations — full annotation on UniProt →
Function. May be a cytokine receptor for GPR15LG. May be a tumor suppressor; together with GPR15LG has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. May play a role in breast tumorigenesis.
Subunit / interactions. Interacts with LGALS1; leads to an increased amount of LGALS1 on the cell surface. Interacts with GPR15LG; the interaction is direct.
Subcellular location. Cell membrane.
Tissue specificity. Highly expressed in breast cancer, but shows a restricted expression pattern in normal tissues such as adipose, adrenal gland, kidney, lung, mammary gland, placenta, thyroid, trachea, and uterus. Also expressed in colon; down-regulated in colon cancer tissues.
RefSeq proteins (1): NP_062547* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR001212 | Somatomedin_B_dom | Domain |
| IPR001846 | VWF_type-D | Domain |
| IPR005533 | AMOP_dom | Domain |
| IPR035976 | Sushi/SCR/CCP_sf | Homologous_superfamily |
| IPR036024 | Somatomedin_B-like_dom_sf | Homologous_superfamily |
| IPR051495 | Epithelial_Barrier/Signaling | Family |
| IPR056619 | C8-3_MUC4 | Domain |
Pfam: PF00084, PF00094, PF03782, PF23263
UniProt features (25 total): disulfide bond 9, domain 4, glycosylation site 3, sequence variant 3, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UGT4-F1 | 91.22 | 0.82 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (9): 31–44, 31–35, 35–62, 42–55, 42–44, 48–54, 55–62, 725–765, 751–778
Glycosylation sites (3): 177, 522, 162
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 98 (showing top):
GOBP_NEGATIVE_REGULATION_OF_CELL_DIVISION, PEREZ_TP63_TARGETS, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_REGULATION_OF_CELL_DIVISION, PEREZ_TP53_AND_TP63_TARGETS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_G1_S_PHASE_TRANSITION, GOBP_REGULATION_OF_CELL_CYCLE_PHASE_TRANSITION, YAMAZAKI_TCEB3_TARGETS_UP, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CELL_DIVISION
GO Biological Process (2): negative regulation of cell division (GO:0051782), negative regulation of cell cycle G1/S phase transition (GO:1902807)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of cellular process | 1 |
| cell division | 1 |
| regulation of cell division | 1 |
| cell cycle G1/S phase transition | 1 |
| negative regulation of cell cycle phase transition | 1 |
| regulation of cell cycle G1/S phase transition | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SUSD2 | GPR15LG | Q6UWK7 | 742 |
| SUSD2 | SUSD1 | Q6UWL2 | 511 |
| SUSD2 | MCAM | P43121 | 507 |
| SUSD2 | ISM1 | B1AKI9 | 498 |
| SUSD2 | PDGFRB | P09619 | 480 |
| SUSD2 | KLF17 | Q5JT82 | 480 |
| SUSD2 | ISM2 | Q6H9L7 | 415 |
| SUSD2 | NT5E | P21589 | 397 |
| SUSD2 | TSR1 | Q2NL82 | 396 |
| SUSD2 | CSMD2 | Q7Z408 | 394 |
| SUSD2 | ENG | P17813 | 391 |
| SUSD2 | HPCAL1 | P37235 | 391 |
| SUSD2 | FAU | P35544 | 383 |
| SUSD2 | SCN9A | Q15858 | 383 |
| SUSD2 | ERAP2 | Q6P179 | 383 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNS2 | SUSD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | SUSD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| SUSD2 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-G | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| NAAA | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDF2L1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| ECEL1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2B | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| UGT1A7 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| ADAM30 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| ST8SIA3 | B3GAT3 | psi-mi:“MI:0914”(association) | 0.350 |
| PLPPR2 | BCL2L1 | psi-mi:“MI:0914”(association) | 0.350 |
| SUSD2 | UGGT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SUSD2 | LGALS1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SUSD2 | TNS2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SUSD2 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SUSD2 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| bclA | SUSD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): LGALS1 (Affinity Capture-MS), UGGT1 (Affinity Capture-MS), TENC1 (Two-hybrid), KRTAP10-8 (Two-hybrid), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS), SUSD2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, G7PWZ3, O77755, O88959, P0C0K7, P17490, P23276, P43021, P51882, P59509, P59996, P70505, Q02853, Q04912, Q04962, Q04997, Q0V8J4, Q0VAY3, Q17R55, Q3U435, Q499S5, Q4R7Z5, Q58Y75, Q62190, Q6MG64, Q76MJ5, Q7TN88, Q7Z442, Q80W65, Q8BMN4, Q8CJH3, Q8IVN8, Q8VCS0, Q91X21, Q96KR4, Q96PQ0, Q96S42
Diamond homologs: A0A1D5NSM8, A2AVA0, C1IBY0, O35086, P00738, P00739, P00751, P04186, P06681, P08174, P0C6B8, P11034, P13366, P19007, P20851, P21180, P28175, P28293, P35588, P49457, P50417, P81187, P81475, P85202, Q03710, Q22328, Q26422, Q27081, Q28506, Q28801, Q3SYW2, Q53EL9, Q5R5F6, Q5VAN1, Q60574, Q6IE14, Q6P1D5, Q7TSK2, Q7Z407, Q7Z408
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — LUSC.
Clinical variants and AI predictions
ClinVar
201 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 166 |
| Likely benign | 17 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2272 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:24184129:T:TA | acceptor_gain | 1.0000 |
| 22:24184132:CCAGT:C | acceptor_loss | 1.0000 |
| 22:24184133:CA:C | acceptor_loss | 1.0000 |
| 22:24184134:A:AG | acceptor_gain | 1.0000 |
| 22:24184134:AGT:A | acceptor_gain | 1.0000 |
| 22:24184135:G:GA | acceptor_gain | 1.0000 |
| 22:24184135:GT:G | acceptor_gain | 1.0000 |
| 22:24184135:GTG:G | acceptor_gain | 1.0000 |
| 22:24184135:GTGC:G | acceptor_gain | 1.0000 |
| 22:24184135:GTGCA:G | acceptor_gain | 1.0000 |
| 22:24184299:GACAG:G | donor_gain | 1.0000 |
| 22:24184301:CAGG:C | donor_loss | 1.0000 |
| 22:24184303:GGT:G | donor_loss | 1.0000 |
| 22:24184304:G:GG | donor_gain | 1.0000 |
| 22:24184938:GAA:G | donor_gain | 1.0000 |
| 22:24184941:G:GG | donor_gain | 1.0000 |
| 22:24185089:CACA:C | acceptor_loss | 1.0000 |
| 22:24185092:A:AG | acceptor_gain | 1.0000 |
| 22:24185092:A:T | acceptor_loss | 1.0000 |
| 22:24185092:AG:A | acceptor_gain | 1.0000 |
| 22:24185092:AGG:A | acceptor_gain | 1.0000 |
| 22:24185093:G:GG | acceptor_gain | 1.0000 |
| 22:24185093:GG:G | acceptor_gain | 1.0000 |
| 22:24185093:GGG:G | acceptor_gain | 1.0000 |
| 22:24185093:GGGAC:G | acceptor_gain | 1.0000 |
| 22:24185233:G:GT | donor_gain | 1.0000 |
| 22:24185236:G:GT | donor_gain | 1.0000 |
| 22:24185293:TTC:T | donor_gain | 1.0000 |
| 22:24185294:TC:T | donor_gain | 1.0000 |
| 22:24185296:G:GG | donor_gain | 1.0000 |
AlphaMissense
5342 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:24185134:T:A | W275R | 0.997 |
| 22:24185134:T:C | W275R | 0.997 |
| 22:24184192:T:A | W166R | 0.994 |
| 22:24184192:T:C | W166R | 0.994 |
| 22:24184907:G:C | R250P | 0.994 |
| 22:24185110:T:A | W267R | 0.994 |
| 22:24185110:T:C | W267R | 0.994 |
| 22:24184194:G:C | W166C | 0.993 |
| 22:24184194:G:T | W166C | 0.993 |
| 22:24185136:G:C | W275C | 0.993 |
| 22:24185136:G:T | W275C | 0.993 |
| 22:24185112:G:C | W267C | 0.992 |
| 22:24185112:G:T | W267C | 0.992 |
| 22:24185856:G:C | W422C | 0.992 |
| 22:24185856:G:T | W422C | 0.992 |
| 22:24188107:G:C | W771C | 0.991 |
| 22:24188107:G:T | W771C | 0.991 |
| 22:24185199:G:C | W296C | 0.988 |
| 22:24185199:G:T | W296C | 0.988 |
| 22:24185522:T:A | C341S | 0.987 |
| 22:24185523:G:C | C341S | 0.987 |
| 22:24185825:A:T | D412V | 0.987 |
| 22:24185188:T:A | C293S | 0.986 |
| 22:24185189:G:C | C293S | 0.986 |
| 22:24185551:T:G | C350W | 0.985 |
| 22:24188126:T:A | C778S | 0.985 |
| 22:24188127:G:C | C778S | 0.985 |
| 22:24183637:T:A | W144R | 0.984 |
| 22:24183637:T:C | W144R | 0.984 |
| 22:24184285:T:A | W197R | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000280624 (22:24179602 G>A,T), RS1000289225 (22:24188243 T>C), RS1001097649 (22:24182783 A>G), RS1001158049 (22:24182550 A>C), RS1002216923 (22:24187186 T>A), RS1002354554 (22:24180564 G>A), RS1002616089 (22:24182266 G>A,T), RS1003249502 (22:24188757 C>T), RS1003594808 (22:24181406 C>A,G,T), RS1003621575 (22:24181355 C>G,T), RS1003803304 (22:24185752 C>A,T), RS1004156502 (22:24187161 G>A,T), RS1004295953 (22:24186958 G>A), RS1005109924 (22:24180808 A>G), RS1005162064 (22:24188373 G>A,C)
Disease associations
OMIM: gene MIM:615825 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001981_2 | Amyotrophic lateral sclerosis | 2.000000e-09 |
| GCST002481_6 | Acne (severe) | 6.000000e-07 |
| GCST005196_252 | Coronary artery disease | 1.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, affects expression, increases abundance, increases expression | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| butylbenzyl phthalate | decreases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| Diethylhexyl Phthalate | affects cotreatment, decreases expression, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| perfluorotetradecanoic acid | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| lead acetate | decreases expression | 1 |
| diisononyl phthalate | affects cotreatment, decreases expression | 1 |
| arsenite | increases expression | 1 |
| lead nitrate | affects cotreatment, decreases expression | 1 |
| perfluorooctanoic acid | affects expression | 1 |
| cupric chloride | decreases expression | 1 |
| perfluorobutyric acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.