SOSTDC1
gene geneOn this page
Also known as DKFZp564D206USAG1DAND7
Summary
SOSTDC1 (sclerostin domain containing 1, HGNC:21748) is a protein-coding gene on chromosome 7p21.2, encoding Sclerostin domain-containing protein 1 (Q6X4U4). May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling.
This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death.
Source: NCBI Gene 25928 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_015464
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21748 |
| Approved symbol | SOSTDC1 |
| Name | sclerostin domain containing 1 |
| Location | 7p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp564D206, USAG1, DAND7 |
| Ensembl gene | ENSG00000171243 |
| Ensembl biotype | protein_coding |
| OMIM | 609675 |
| Entrez | 25928 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000307068, ENST00000396652
RefSeq mRNA: 1 — MANE Select: NM_015464
NM_015464
CCDS: CCDS5360
Canonical transcript exons
ENST00000307068 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001141528 | 16465464 | 16465738 |
| ENSE00001896260 | 16461481 | 16462963 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 98.49.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9833 / max 427.9260, expressed in 383 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82890 | 1.7672 | 268 |
| 82891 | 0.5758 | 229 |
| 82892 | 0.5548 | 234 |
| 82888 | 0.0515 | 20 |
| 82889 | 0.0279 | 8 |
| 82893 | 0.0061 | 1 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 98.49 | gold quality |
| retina | UBERON:0000966 | 98.46 | gold quality |
| hair follicle | UBERON:0002073 | 98.21 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.15 | gold quality |
| parotid gland | UBERON:0001831 | 93.08 | gold quality |
| upper leg skin | UBERON:0004262 | 90.68 | gold quality |
| upper arm skin | UBERON:0004263 | 87.07 | gold quality |
| lower lobe of lung | UBERON:0008949 | 85.96 | silver quality |
| rectum | UBERON:0001052 | 85.87 | gold quality |
| sperm | CL:0000019 | 85.70 | silver quality |
| endothelial cell | CL:0000115 | 85.69 | gold quality |
| mammalian vulva | UBERON:0000997 | 85.38 | gold quality |
| right lung | UBERON:0002167 | 85.02 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 84.26 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.96 | gold quality |
| mammary duct | UBERON:0001765 | 83.94 | gold quality |
| renal medulla | UBERON:0000362 | 83.76 | gold quality |
| jejunal mucosa | UBERON:0000399 | 83.67 | gold quality |
| male germ cell | CL:0000015 | 82.68 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 82.57 | gold quality |
| lung | UBERON:0002048 | 82.35 | gold quality |
| zone of skin | UBERON:0000014 | 82.00 | gold quality |
| nephron tubule | UBERON:0001231 | 81.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 81.58 | gold quality |
| colonic mucosa | UBERON:0000317 | 81.43 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.35 | gold quality |
| skin of abdomen | UBERON:0001416 | 81.22 | gold quality |
| upper lobe of lung | UBERON:0008948 | 81.12 | gold quality |
| duodenum | UBERON:0002114 | 81.01 | gold quality |
| skin of hip | UBERON:0001554 | 80.73 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-11 | yes | 1768.00 |
| E-ENAD-20 | yes | 718.01 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HOXA13, NFIL3, PAX3, SHH
miRNA regulators (miRDB)
83 targeting SOSTDC1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
Literature-anchored findings (GeneRIF, showing 23)
- Data suggest that ectodin is a novel bone morphogenetic protein (BMP) inhibitor which integrates BMP signaling with the SHH and FGF signal pathways (PMID:14623234)
- USAG1 is expressed in the kidney and functions as a bone morphogenetic protein antagonist. (PMID:15020244)
- This screen identified a bone morphogenetic protein (BMP) antagonist, SOSTDC1 (sclerostin domain-containing-1) as down-regulated in kidney tumors. (PMID:18032587)
- Loss of SOSTDC1 gene is associated with Wilms tumor. (PMID:19760604)
- genetic aberrations near SOSTDC1 are not uncommon in renal cancer, and occur in adult as well as pediatric renal tumors. (PMID:21080955)
- SOSTDC1 is expressed in normal breast tissue and this expression is reduced in breast cancer. (PMID:21113658)
- Results indicate for the first time that the genetic polymorphisms in SOSTDC1 have an effect on attainment and maintenance of peak bone mass in Chinese women. (PMID:21221677)
- DNA methylation is involved in the down-regulation of SOSTDC1 expression in gastric cancer. (PMID:23830730)
- Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1. (PMID:24190897)
- Results conclude that the transcriptional repressor E4BP4 plays a role in repressing epigenetically regulated SOSTDC1 expression in breast cancer cells, which can be reverted by E4BP4 silencing. (PMID:25338303)
- Epigenetic silencing of SOSTDC1 through methylation is increased in prostate cancer and is associated with accelerated disease progression in patients with prostate cancer (PMID:25858146)
- Down-regulation of SOSTDC1 promotes thyroid cancer cell proliferation via regulating cyclin A2 and cyclin E2. (PMID:26378658)
- findings provide insight into the role of SOSTDC1 as a novel functional tumor suppressor in follicular thyroid cancer through modulating the activities of PI3K/Akt and MAPK/Erk signaling pathways. (PMID:28551845)
- The present study aimed to investigate SOSTDC1 coding regions in non-syndromic patients with one or more supernumerary teeth (PMID:30148467)
- SOSTDC1 may be a potential prognostic biomarker and therapeutic target for nonsmall cell lung cancer bone metastasis. (PMID:30320379)
- Study revealed upregulation of ADAMTS8 and downregulation of FRAS1 and SOSTDC1 in primary fibroblasts from linear morphoea (LM) lesions. SOSTDC1 knock-down recapitulated the reduced TGF -beta1 responsiveness and LM fibroblast migration, while overexpression of ADAMTS 8 induced myofibroblast markers. (PMID:30367460)
- Lack of association between SOSTDC1 gene polymorphisms and mesiodens (PMID:31133012)
- Downregulation of Sostdc1 in Testicular Sertoli Cells is Prerequisite for Onset of Robust Spermatogenesis at Puberty. (PMID:31391487)
- As rat Sostdc1 and human SOSTDC1 are dual antagonists of the Wnt/beta-catenin and BMP signaling pathways, these results underscore the potential crucial roles of these pathways and their antagonists, such as Sostdc1 and SOSTDC1, in developing and adult mammalian normal eyes as well as in syndromic and nonsyndromic congenital eye diseases. (PMID:31529323)
- Characterization of the different oligomeric states of the DAN family antagonists SOSTDC1 and SOST. (PMID:32779697)
- Impact of microRNA-21-5p on the growth of thyroid cancer cells via targeting the recombinant sclerostin domain containing protein 1.", trans “RNA-21-5p1. (PMID:34911834)
- Exosomal circ_0001190 Regulates the Progression of Gastric Cancer via miR-586/SOSTDC1 Axis. (PMID:35138469)
- SOSTDC1 acts as a tumor inhibitor in acute myeloid leukemia by downregulating the Wnt/beta-catenin pathway. (PMID:35442555)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sostdc1b | ENSDARG00000056021 |
| danio_rerio | sostdc1a | ENSDARG00000068892 |
| mus_musculus | Sostdc1 | ENSMUSG00000036169 |
| rattus_norvegicus | Sostdc1 | ENSRNOG00000005770 |
Paralogs (1): SOST (ENSG00000167941)
Protein
Protein identifiers
Sclerostin domain-containing protein 1 — Q6X4U4 (reviewed: Q6X4U4)
Alternative names: Ectodermal BMP inhibitor, Uterine sensitization-associated gene 1 protein
All UniProt accessions (2): A4D125, Q6X4U4
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling. Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner.
Subunit / interactions. Interacts with BMP2, BMP4, BMP6 and BMP7 with high affinity.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in kidney and weakly in lung.
Similarity. Belongs to the sclerostin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6X4U4-1 | 1 | yes |
| Q6X4U4-2 | 2 |
RefSeq proteins (1): NP_056279* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006207 | Cys_knot_C | Domain |
| IPR008835 | Sclerostin/SOSTDC1 | Family |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
Pfam: PF05463
UniProt features (23 total): sequence conflict 10, disulfide bond 4, glycosylation site 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6X4U4-F1 | 68.84 | 0.28 |
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 (4): 104–165, 75–133, 89–147, 100–163
Glycosylation sites (2): 47, 173
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 198 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MAMMARY_GLAND_MORPHOGENESIS, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_GLAND_MORPHOGENESIS, GOBP_MAMMARY_GLAND_EPITHELIUM_DEVELOPMENT, AREB6_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GGGTGGRR_PAX4_03, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_REGULATION_OF_MYOBLAST_DIFFERENTIATION
GO Biological Process (16): pattern specification process (GO:0007389), negative regulation of cell fate commitment (GO:0010454), negative regulation of Wnt signaling pathway (GO:0030178), negative regulation of BMP signaling pathway (GO:0030514), hair follicle morphogenesis (GO:0031069), odontogenesis of dentin-containing tooth (GO:0042475), negative regulation of myoblast differentiation (GO:0045662), canonical Wnt signaling pathway (GO:0060070), mammary gland bud morphogenesis (GO:0060648), epithelial cell fate commitment (GO:0072148), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of determination of dorsal identity (GO:2000016), Wnt signaling pathway (GO:0016055), BMP signaling pathway (GO:0030509), cell fate commitment (GO:0045165), negative regulation of cell differentiation (GO:0045596)
GO Molecular Function (2): BMP binding (GO:0036122), BMP receptor activity (GO:0098821)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell fate commitment | 2 |
| negative regulation of cell differentiation | 2 |
| Wnt signaling pathway | 2 |
| BMP signaling pathway | 2 |
| cell differentiation | 2 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| regulation of cell fate commitment | 1 |
| negative regulation of signal transduction | 1 |
| regulation of Wnt signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| hair follicle development | 1 |
| anatomical structure morphogenesis | 1 |
| hair cycle process | 1 |
| epidermis morphogenesis | 1 |
| odontogenesis | 1 |
| myoblast differentiation | 1 |
| regulation of myoblast differentiation | 1 |
| morphogenesis of an epithelial bud | 1 |
| mammary gland duct morphogenesis | 1 |
| epithelial cell differentiation | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| determination of dorsal identity | 1 |
| negative regulation of multicellular organismal process | 1 |
| regulation of determination of dorsal identity | 1 |
| cell surface receptor signaling pathway | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| cellular developmental process | 1 |
| regulation of cell differentiation | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of developmental process | 1 |
| cytokine binding | 1 |
| transmembrane receptor protein serine/threonine kinase activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
406 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SOSTDC1 | LRP5 | O75197 | 880 |
| SOSTDC1 | DKK4 | Q9UBT3 | 687 |
| SOSTDC1 | EDA | Q92838 | 591 |
| SOSTDC1 | BMP7 | P18075 | 590 |
| SOSTDC1 | FOXI1 | Q12951 | 584 |
| SOSTDC1 | LRP6 | O75581 | 576 |
| SOSTDC1 | SHH | Q15465 | 560 |
| SOSTDC1 | WNT6 | Q9Y6F9 | 554 |
| SOSTDC1 | BMP6 | P22004 | 549 |
| SOSTDC1 | GREM2 | Q9H772 | 543 |
| SOSTDC1 | BMP4 | P12644 | 518 |
| SOSTDC1 | BMP2 | P12643 | 507 |
| SOSTDC1 | EDAR | Q9UNE0 | 506 |
| SOSTDC1 | MSX2 | P35548 | 481 |
| SOSTDC1 | CER1 | O95813 | 480 |
IntAct
0 interactions, top by confidence:
BioGRID (32): BMP2 (Affinity Capture-Western), BMP4 (Affinity Capture-Western), BMP7 (Affinity Capture-Western), PLEC (Affinity Capture-MS), TACC1 (Affinity Capture-MS), SOSTDC1 (Affinity Capture-MS), TACC2 (Affinity Capture-MS), POF1B (Affinity Capture-MS), CEACAM5 (Affinity Capture-MS), SLC9A3R1 (Affinity Capture-MS), TLN2 (Affinity Capture-MS), SERPINB6 (Affinity Capture-MS), SERPINB12 (Affinity Capture-MS), DRG1 (Affinity Capture-MS), ATXN10 (Affinity Capture-MS)
ESM2 similar proteins: B5X1Q3, O54908, O93279, O94907, P12843, P13384, P18065, P24593, P24594, P24853, P47876, P47877, Q05717, Q07079, Q13145, Q1RMU1, Q28985, Q29400, Q2TJ95, Q3UTY6, Q5EGE1, Q5R328, Q5R3F8, Q5R5D2, Q5XHC5, Q642G2, Q68FM6, Q6UXI9, Q6VYA3, Q6X4U4, Q6ZMP0, Q76LD0, Q7TSK7, Q86TH1, Q8AVH7, Q8C8T7, Q8HYZ0, Q8IUX8, Q8VEJ3, Q91V88
Diamond homologs: Q5R5D2, Q642G2, Q6VYA3, Q6X4U4, Q99P67, Q99P68, Q9BG78, Q9BG79, Q9BQB4, Q9CQN4
SIGNOR signaling
20 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SOSTDC1 | “down-regulates activity” | WNT3A | |
| SOSTDC1 | “down-regulates activity” | WNT8A | |
| NFIL3 | “down-regulates quantity by repression” | SOSTDC1 | “transcriptional regulation” |
| SOSTDC1 | “down-regulates activity” | WNT10A | |
| SOSTDC1 | “down-regulates activity” | WNT10B | |
| SOSTDC1 | “down-regulates activity” | WNT2B | |
| SOSTDC1 | “down-regulates activity” | WNT1 | |
| SOSTDC1 | “down-regulates activity” | WNT4 | |
| SOSTDC1 | “down-regulates activity” | WNT7A | |
| SOSTDC1 | “down-regulates activity” | WNT16 | |
| SOSTDC1 | “down-regulates activity” | WNT11 | |
| SOSTDC1 | “down-regulates activity” | WNT2 | |
| SOSTDC1 | “down-regulates activity” | WNT5B | |
| SOSTDC1 | “down-regulates activity” | WNT3 | |
| SOSTDC1 | “down-regulates activity” | WNT7B | |
| SOSTDC1 | “down-regulates activity” | WNT5A | |
| SOSTDC1 | “down-regulates activity” | WNT9B | |
| SOSTDC1 | “down-regulates activity” | BMP2 | |
| SOSTDC1 | “down-regulates activity” | BMP4 | |
| SOSTDC1 | “down-regulates activity” | BMP7 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
289 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:16462959:CCGAG:C | acceptor_gain | 1.0000 |
| 7:16462960:CGAG:C | acceptor_gain | 1.0000 |
| 7:16462960:CGAGC:C | acceptor_gain | 1.0000 |
| 7:16462961:GAG:G | acceptor_gain | 1.0000 |
| 7:16462962:AG:A | acceptor_gain | 1.0000 |
| 7:16462963:GC:G | acceptor_loss | 1.0000 |
| 7:16462964:C:CC | acceptor_gain | 1.0000 |
| 7:16462965:T:A | acceptor_loss | 1.0000 |
| 7:16462974:C:CT | acceptor_gain | 1.0000 |
| 7:16462975:A:T | acceptor_gain | 1.0000 |
| 7:16465458:A:AC | donor_gain | 1.0000 |
| 7:16465459:C:CC | donor_gain | 1.0000 |
| 7:16465460:TTA:T | donor_loss | 1.0000 |
| 7:16465461:TACTG:T | donor_loss | 1.0000 |
| 7:16465462:A:AC | donor_gain | 1.0000 |
| 7:16465462:ACTGT:A | donor_loss | 1.0000 |
| 7:16465463:C:CG | donor_gain | 1.0000 |
| 7:16465463:CT:C | donor_gain | 1.0000 |
| 7:16465463:CTG:C | donor_gain | 1.0000 |
| 7:16465463:CTGTT:C | donor_gain | 1.0000 |
| 7:16527038:GCCGG:G | donor_gain | 1.0000 |
| 7:16527039:CCGGG:C | donor_loss | 1.0000 |
| 7:16527041:GG:G | donor_gain | 1.0000 |
| 7:16527042:GG:G | donor_gain | 1.0000 |
| 7:16527042:GGTA:G | donor_loss | 1.0000 |
| 7:16527043:G:C | donor_loss | 1.0000 |
| 7:16527043:G:GG | donor_gain | 1.0000 |
| 7:16527044:T:TC | donor_loss | 1.0000 |
| 7:16462967:C:CT | acceptor_gain | 0.9900 |
| 7:16462968:A:T | acceptor_gain | 0.9900 |
AlphaMissense
1362 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:16462671:C:A | K166N | 1.000 |
| 7:16462671:C:G | K166N | 1.000 |
| 7:16462674:G:C | C165W | 1.000 |
| 7:16462675:C:G | C165S | 1.000 |
| 7:16462675:C:T | C165Y | 1.000 |
| 7:16462676:A:G | C165R | 1.000 |
| 7:16462676:A:T | C165S | 1.000 |
| 7:16462680:G:C | C163W | 1.000 |
| 7:16462681:C:A | C163F | 1.000 |
| 7:16462681:C:G | C163S | 1.000 |
| 7:16462681:C:T | C163Y | 1.000 |
| 7:16462682:A:G | C163R | 1.000 |
| 7:16462682:A:T | C163S | 1.000 |
| 7:16462711:C:G | R153P | 1.000 |
| 7:16462728:G:C | C147W | 1.000 |
| 7:16462729:C:G | C147S | 1.000 |
| 7:16462729:C:T | C147Y | 1.000 |
| 7:16462730:A:G | C147R | 1.000 |
| 7:16462730:A:T | C147S | 1.000 |
| 7:16462735:A:G | L145P | 1.000 |
| 7:16462770:A:C | C133W | 1.000 |
| 7:16462771:C:A | C133F | 1.000 |
| 7:16462771:C:G | C133S | 1.000 |
| 7:16462771:C:T | C133Y | 1.000 |
| 7:16462772:A:G | C133R | 1.000 |
| 7:16462772:A:T | C133S | 1.000 |
| 7:16462776:C:A | W131C | 1.000 |
| 7:16462776:C:G | W131C | 1.000 |
| 7:16462778:A:G | W131R | 1.000 |
| 7:16462778:A:T | W131R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000015750 (7:16463983 A>C), RS1000088697 (7:16464194 G>A), RS1000940345 (7:16466940 C>A), RS1001089128 (7:16462862 C>G,T), RS1001322708 (7:16462575 G>T), RS1001392708 (7:16467085 T>C,G), RS1002441945 (7:16467143 A>G), RS1002494210 (7:16467377 G>T), RS1002726313 (7:16461019 A>G), RS1002982157 (7:16466143 G>A), RS1003391143 (7:16466498 A>G), RS1004172519 (7:16466479 A>G,T), RS1004504535 (7:16466069 G>A,C), RS1005093905 (7:16464716 A>G), RS1005564704 (7:16461849 A>G)
Disease associations
OMIM: gene MIM:609675 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000635_24 | Response to statin therapy | 9.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| entinostat | affects cotreatment, decreases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, affects expression | 2 |
| Nickel | decreases expression | 2 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
| bisphenol A | decreases methylation, affects cotreatment | 1 |
| decabromobiphenyl ether | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Ethinyl Estradiol | affects expression | 1 |
| Tamoxifen | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Genistein | affects 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.