ST7L
gene geneOn this page
Also known as FLJ20284STLRST7RFAM4B
Summary
ST7L (suppression of tumorigenicity 7 like, HGNC:18441) is a protein-coding gene on chromosome 1p13.2, encoding Suppressor of tumorigenicity 7 protein-like (Q8TDW4).
This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized.
Source: NCBI Gene 54879 — RefSeq curated summary.
At a glance
- GWAS associations: 32
- Clinical variants (ClinVar): 106 total
- MANE Select transcript:
NM_017744
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18441 |
| Approved symbol | ST7L |
| Name | suppression of tumorigenicity 7 like |
| Location | 1p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20284, STLR, ST7R, FAM4B |
| Ensembl gene | ENSG00000007341 |
| Ensembl biotype | protein_coding |
| OMIM | 617640 |
| Entrez | 54879 |
Gene structure
Transcript identifiers
Ensembl transcripts: 50 — 30 protein_coding, 18 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000343210, ENST00000358039, ENST00000360743, ENST00000361846, ENST00000369664, ENST00000369666, ENST00000369669, ENST00000418497, ENST00000459630, ENST00000463235, ENST00000466360, ENST00000467335, ENST00000470519, ENST00000470683, ENST00000473206, ENST00000477332, ENST00000477682, ENST00000479436, ENST00000480988, ENST00000485753, ENST00000490067, ENST00000490715, ENST00000492274, ENST00000495109, ENST00000497235, ENST00000497457, ENST00000498197, ENST00000498383, ENST00000904302, ENST00000904303, ENST00000904304, ENST00000904305, ENST00000904306, ENST00000904307, ENST00000904308, ENST00000904309, ENST00000904310, ENST00000904311, ENST00000904312, ENST00000904313, ENST00000904314, ENST00000917580, ENST00000917581, ENST00000917582, ENST00000969281, ENST00000969282, ENST00000969283, ENST00000969284, ENST00000969285, ENST00000969286
RefSeq mRNA: 5 — MANE Select: NM_017744
NM_001308264, NM_017744, NM_138727, NM_138728, NM_138729
CCDS: CCDS76189, CCDS848, CCDS849, CCDS850, CCDS852
Canonical transcript exons
ENST00000358039 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002694629 | 112618909 | 112619141 |
| ENSE00003483364 | 112610841 | 112611003 |
| ENSE00003502022 | 112576986 | 112577088 |
| ENSE00003508263 | 112591525 | 112591603 |
| ENSE00003509790 | 112600794 | 112600848 |
| ENSE00003514211 | 112555868 | 112556018 |
| ENSE00003587823 | 112597971 | 112598086 |
| ENSE00003611954 | 112581992 | 112582106 |
| ENSE00003622850 | 112578345 | 112578417 |
| ENSE00003642340 | 112582375 | 112582472 |
| ENSE00003655548 | 112616813 | 112616895 |
| ENSE00003666988 | 112550601 | 112550693 |
| ENSE00003784206 | 112541951 | 112542090 |
| ENSE00003789543 | 112583972 | 112584126 |
| ENSE00003845725 | 112523514 | 112526111 |
Expression profiles
Bgee: expression breadth ubiquitous, 212 present calls, max score 96.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.5064 / max 156.1556, expressed in 1816 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13860 | 15.9630 | 1803 |
| 13862 | 1.4115 | 344 |
| 13864 | 0.6371 | 298 |
| 13863 | 0.3904 | 177 |
| 13859 | 0.0660 | 23 |
| 13861 | 0.0283 | 9 |
| 13858 | 0.0101 | 6 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 96.25 | gold quality |
| male germ cell | CL:0000015 | 94.46 | gold quality |
| right testis | UBERON:0004534 | 92.94 | gold quality |
| left testis | UBERON:0004533 | 92.90 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.42 | gold quality |
| testis | UBERON:0000473 | 91.28 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.85 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.31 | gold quality |
| ventricular zone | UBERON:0003053 | 89.84 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.30 | gold quality |
| left ovary | UBERON:0002119 | 87.94 | gold quality |
| body of pancreas | UBERON:0001150 | 87.71 | gold quality |
| skin of abdomen | UBERON:0001416 | 87.65 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.26 | gold quality |
| skin of leg | UBERON:0001511 | 87.19 | gold quality |
| ectocervix | UBERON:0012249 | 87.10 | gold quality |
| sural nerve | UBERON:0015488 | 87.02 | gold quality |
| body of uterus | UBERON:0009853 | 86.94 | gold quality |
| right ovary | UBERON:0002118 | 86.79 | gold quality |
| endocervix | UBERON:0000458 | 86.65 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.45 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.11 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.11 | gold quality |
| ovary | UBERON:0000992 | 86.02 | gold quality |
| popliteal artery | UBERON:0002250 | 86.01 | gold quality |
| tibial artery | UBERON:0007610 | 86.01 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.00 | gold quality |
| thyroid gland | UBERON:0002046 | 85.99 | 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: no
miRNA regulators (miRDB)
89 targeting ST7L, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
Literature-anchored findings (GeneRIF, showing 6)
- miR-24 is a direct regulator of ST7L. (PMID:23142218)
- This study revealed important roles of miR-23b and ST7L in progression of Hepatocellular carcinoma. (PMID:28518144)
- miR-378 functions as an onco-miRNA by directly downregulating ST7L mRNA and protein level. (PMID:28902356)
- Study found that miR-331-3p was significantly upregulated in tumor specimens of pancreatic cancer (PC) patients and cell lines. Downregulation of miR-331-3p inhibited PC cell proliferation and epithelial-mesenchymal transition-mediated metastasis in vitro. ST7L was identified as a novel target gene of miR-331-3p. Results demonstrate that miR-331-3p is a tumor-promoting microRNA and a promising biomarker for PC. (PMID:29850766)
- Suppression of the proliferation and invasion of breast cancer cells by ST7L occurs through inhibition of activation of Wnt/GSK-3beta/beta-catenin signalling. (PMID:31429477)
- MiR-331-3p Links to Drug Resistance of Pancreatic Cancer Cells by Activating WNT/beta-Catenin Signal via ST7L. (PMID:32924881)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | st7l | ENSDARG00000032603 |
| mus_musculus | St7l | ENSMUSG00000045576 |
| rattus_norvegicus | St7l | ENSRNOG00000014002 |
| drosophila_melanogaster | CG3634 | FBGN0037026 |
| caenorhabditis_elegans | WBGENE00008686 |
Paralogs (1): ST7 (ENSG00000004866)
Protein
Protein identifiers
Suppressor of tumorigenicity 7 protein-like — Q8TDW4 (reviewed: Q8TDW4)
Alternative names: ST7-related protein
All UniProt accessions (3): Q8TDW4, H0Y7M0, Q5TEH7
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Similarity. Belongs to the ST7 family.
Isoforms (8)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TDW4-1 | 1 | yes |
| Q8TDW4-2 | 2 | |
| Q8TDW4-3 | 3 | |
| Q8TDW4-4 | 4 | |
| Q8TDW4-5 | 5 | |
| Q8TDW4-6 | 6 | |
| Q8TDW4-7 | 7 | |
| Q8TDW4-8 | 8 |
RefSeq proteins (5): NP_001295193, NP_060214, NP_620055, NP_620056, NP_620057 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007311 | ST7 | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF04184
UniProt features (23 total): splice variant 10, sequence conflict 5, sequence variant 3, transmembrane region 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDW4-F1 | 80.12 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GROWTH, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, AAAYRNCTG_UNKNOWN, MODULE_256, TGIF_01, GATA2_01, RYTTCCTG_ETS2_B, ELK1_01, IK2_01, NERF_Q2, MODULE_47
GO Biological Process (1): negative regulation of cell growth (GO:0030308)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
448 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ST7L | FXYD2 | P54710 | 444 |
| ST7L | AKT1 | P31749 | 441 |
| ST7L | TAOK2 | Q9UL54 | 433 |
| ST7L | TSPYL2 | Q9H2G4 | 377 |
| ST7L | BCLAF1 | Q9NYF8 | 341 |
| ST7L | FIGN | Q5HY92 | 340 |
| ST7L | TP73 | O15350 | 329 |
| ST7L | SPDL1 | Q96EA4 | 324 |
| ST7L | TEX261 | Q6UWH6 | 316 |
| ST7L | TTC16 | Q8NEE8 | 316 |
| ST7L | WNT2B | Q93097 | 307 |
| ST7L | CAPZA1 | P52907 | 301 |
| ST7L | TLR2 | O60603 | 295 |
| ST7L | HOXD13 | P35453 | 271 |
| ST7L | BPIFB3 | P59826 | 257 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIR3DL2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| MCOLN3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PCDHB7 | C2CD2L | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| RNF170 | ERLIN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ST7L | MACO1 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNA2 | TMEM129 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SIDT2 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB6 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGB4 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| RXFP1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCAP | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGC4 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC39A8 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB11 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| MARCHF4 | C2CD2L | psi-mi:“MI:0914”(association) | 0.350 |
| PTCHD3 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| MS4A15 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC17A2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| ABCA2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| OR10H2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC4A8 | ABCC4 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRN2 | TRIM13 | psi-mi:“MI:0914”(association) | 0.350 |
| GABRA6 | HMGCR | psi-mi:“MI:0914”(association) | 0.350 |
| RNF5 | ZFTRAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| IL17RB | ATP1A3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (64): ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS), ST7L (Affinity Capture-MS)
ESM2 similar proteins: A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, P70398, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q148V7, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q5R660, Q5R8N4, Q5XI83, Q68FW3, Q7Z3J2, Q86X10, Q8BWQ6
Diamond homologs: A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A7S641, A8X0L4, A9JRA0, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q19337, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2M146, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q68FW3, Q8K4P7, Q8TDW4, Q90YH8, Q99M96
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 52 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 |
|---|---|---|---|
| SLC-mediated transmembrane transport | 5 | 9.0× | 9e-03 |
| Transport of small molecules | 10 | 7.6× | 5e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transmembrane transport | 5 | 21.1× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 18 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2869 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:112555866:A:AC | donor_gain | 1.0000 |
| 1:112555866:ACTG:A | donor_gain | 1.0000 |
| 1:112555867:C:CC | donor_gain | 1.0000 |
| 1:112555867:CTGC:C | donor_gain | 1.0000 |
| 1:112576984:A:AC | donor_gain | 1.0000 |
| 1:112576985:C:CT | donor_gain | 1.0000 |
| 1:112576985:CTT:C | donor_gain | 1.0000 |
| 1:112578343:A:AC | donor_gain | 1.0000 |
| 1:112578344:C:CC | donor_gain | 1.0000 |
| 1:112578344:CTTTT:C | donor_gain | 1.0000 |
| 1:112582103:TCAA:T | acceptor_gain | 1.0000 |
| 1:112582104:CAA:C | acceptor_gain | 1.0000 |
| 1:112582104:CAAC:C | acceptor_gain | 1.0000 |
| 1:112582107:C:CC | acceptor_gain | 1.0000 |
| 1:112582114:T:TC | acceptor_gain | 1.0000 |
| 1:112582374:CAT:C | donor_gain | 1.0000 |
| 1:112582374:CATCT:C | donor_gain | 1.0000 |
| 1:112583970:A:AC | donor_gain | 1.0000 |
| 1:112583971:C:CC | donor_gain | 1.0000 |
| 1:112583971:CT:C | donor_gain | 1.0000 |
| 1:112583975:G:C | donor_gain | 1.0000 |
| 1:112584124:CAG:C | acceptor_gain | 1.0000 |
| 1:112591523:A:AC | donor_gain | 1.0000 |
| 1:112591524:C:CC | donor_gain | 1.0000 |
| 1:112598087:C:CC | acceptor_gain | 1.0000 |
| 1:112598093:C:CT | acceptor_gain | 1.0000 |
| 1:112598094:A:T | acceptor_gain | 1.0000 |
| 1:112619023:C:CA | donor_gain | 1.0000 |
| 1:112619035:G:C | donor_gain | 1.0000 |
| 1:112619880:GAAG:G | donor_gain | 1.0000 |
AlphaMissense
3718 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:112555919:A:G | W449R | 1.000 |
| 1:112555919:A:T | W449R | 1.000 |
| 1:112576993:A:T | V413D | 1.000 |
| 1:112555888:A:G | L459S | 0.999 |
| 1:112555891:A:G | L458P | 0.999 |
| 1:112555917:C:A | W449C | 0.999 |
| 1:112555917:C:G | W449C | 0.999 |
| 1:112555918:C:G | W449S | 0.999 |
| 1:112555956:A:C | S436R | 0.999 |
| 1:112555956:A:T | S436R | 0.999 |
| 1:112555958:T:G | S436R | 0.999 |
| 1:112556014:A:G | L417S | 0.999 |
| 1:112577001:A:C | N410K | 0.999 |
| 1:112577001:A:T | N410K | 0.999 |
| 1:112577014:G:T | A406D | 0.999 |
| 1:112577015:C:G | A406P | 0.999 |
| 1:112577027:C:G | A402P | 0.999 |
| 1:112578372:A:G | L372P | 0.999 |
| 1:112578375:G:T | A371E | 0.999 |
| 1:112582057:A:G | L335P | 0.999 |
| 1:112591589:A:G | W213R | 0.999 |
| 1:112591589:A:T | W213R | 0.999 |
| 1:112598036:A:G | L186P | 0.999 |
| 1:112600829:G:C | N157K | 0.999 |
| 1:112600829:G:T | N157K | 0.999 |
| 1:112556018:A:C | Y416D | 0.998 |
| 1:112556018:A:G | Y416H | 0.998 |
| 1:112577004:A:C | F409L | 0.998 |
| 1:112577004:A:T | F409L | 0.998 |
| 1:112577006:A:G | F409L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000008870 (1:112534251 G>A), RS1000039184 (1:112589829 A>T), RS1000049579 (1:112545784 T>C), RS1000054693 (1:112592612 A>G), RS1000086745 (1:112586566 T>C), RS1000106643 (1:112592237 T>TA), RS1000118637 (1:112542178 A>T), RS1000137429 (1:112618272 T>A,C), RS1000195744 (1:112594401 G>A), RS1000244867 (1:112571820 C>A), RS1000258703 (1:112601331 C>T), RS1000297858 (1:112572280 A>C), RS1000317741 (1:112549008 T>C), RS1000335172 (1:112585221 C>T), RS1000389606 (1:112562419 G>A)
Disease associations
OMIM: gene MIM:617640 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
32 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001072_3 | Blood pressure | 8.000000e-06 |
| GCST001074_5 | Blood pressure | 1.000000e-08 |
| GCST003074_3 | Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) | 2.000000e-07 |
| GCST003273_2 | Diastolic blood pressure | 6.000000e-07 |
| GCST003273_5 | Diastolic blood pressure | 7.000000e-08 |
| GCST004599_247 | Mean platelet volume | 2.000000e-13 |
| GCST004607_203 | Plateletcrit | 5.000000e-12 |
| GCST004616_111 | Platelet distribution width | 9.000000e-31 |
| GCST004776_10 | Systolic blood pressure | 2.000000e-07 |
| GCST004777_46 | Diastolic blood pressure | 2.000000e-08 |
| GCST006166_6 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 1.000000e-19 |
| GCST006167_6 | Mean arterial pressure x alcohol consumption interaction (2df test) | 5.000000e-10 |
| GCST006231_13 | Mean arterial pressure | 3.000000e-07 |
| GCST006258_50 | Diastolic blood pressure | 9.000000e-10 |
| GCST006259_26 | Systolic blood pressure | 1.000000e-12 |
| GCST006394_30 | Intraocular pressure | 3.000000e-11 |
| GCST007294_13 | Body fat distribution (trunk fat ratio) | 9.000000e-19 |
| GCST007294_32 | Body fat distribution (trunk fat ratio) | 1.000000e-08 |
| GCST007295_163 | Body fat distribution (leg fat ratio) | 8.000000e-07 |
| GCST007295_7 | Body fat distribution (leg fat ratio) | 7.000000e-16 |
| GCST009725_41 | Intraocular pressure | 2.000000e-11 |
| GCST010696_10 | Cortical thickness (min-P) | 6.000000e-41 |
| GCST010697_23 | Cortical surface area (min-P) | 1.000000e-08 |
| GCST010698_26 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_12 | Brain morphology (min-P) | 2.000000e-10 |
| GCST010700_13 | Cortical thickness (MOSTest) | 8.000000e-13 |
| GCST010701_138 | Cortical surface area (MOSTest) | 9.000000e-10 |
| GCST010702_169 | Subcortical volume (MOSTest) | 2.000000e-17 |
| GCST010703_263 | Brain morphology (MOSTest) | 3.000000e-13 |
| GCST90002401_352 | Platelet distribution width | 1.000000e-91 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0006336 | diastolic blood pressure |
| EFO:0007707 | cerebral amyloid deposition measurement |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
| EFO:0004329 | alcohol drinking |
| EFO:0006340 | mean arterial pressure |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression, increases methylation | 7 |
| Phenylmercuric Acetate | affects cotreatment, increases expression, decreases expression | 2 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases expression | 1 |
| Air Pollutants | increases abundance, increases expression, affects cotreatment | 1 |
| Arsenic | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | increases expression, increases abundance, affects cotreatment | 1 |
| Quercetin | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Gold Compounds | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases expression | 1 |
| Magnetite Nanoparticles | increases 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.