SCARA5
gene geneOn this page
Also known as FLJ23907MGC45780NET33
Summary
SCARA5 (scavenger receptor class A member 5, HGNC:28701) is a protein-coding gene on chromosome 8p21.1, encoding Scavenger receptor class A member 5 (Q6ZMJ2). Ferritin receptor that mediates non-transferrin-dependent delivery of iron.
Predicted to enable ferritin receptor activity. Predicted to be involved in several processes, including intracellular iron ion homeostasis; iron ion transmembrane transport; and protein homotrimerization. Predicted to act upstream of or within cellular response to heat. Predicted to be located in plasma membrane.
Source: NCBI Gene 286133 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_173833
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28701 |
| Approved symbol | SCARA5 |
| Name | scavenger receptor class A member 5 |
| Location | 8p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23907, MGC45780, NET33 |
| Ensembl gene | ENSG00000168079 |
| Ensembl biotype | protein_coding |
| OMIM | 611306 |
| Entrez | 286133 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000354914, ENST00000380385, ENST00000518030, ENST00000524352, ENST00000881547, ENST00000881548, ENST00000881549, ENST00000881550, ENST00000881551, ENST00000970495, ENST00000970496
RefSeq mRNA: 4 — MANE Select: NM_173833
NM_001413201, NM_001413202, NM_001413203, NM_173833
CCDS: CCDS6064
Canonical transcript exons
ENST00000354914 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001120160 | 27966414 | 27966542 |
| ENSE00001120161 | 27907148 | 27907246 |
| ENSE00001159476 | 27909663 | 27909743 |
| ENSE00001159481 | 27921571 | 27922245 |
| ENSE00001364602 | 27987504 | 27987630 |
| ENSE00001409681 | 27879569 | 27879766 |
| ENSE00001424146 | 27904778 | 27904834 |
| ENSE00001947169 | 27869883 | 27872070 |
| ENSE00002090583 | 27992257 | 27992673 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 99.55.
FANTOM5 (CAGE): breadth broad, TPM avg 2.1329 / max 174.3292, expressed in 226 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92519 | 1.2651 | 188 |
| 92518 | 0.7788 | 167 |
| 92517 | 0.0482 | 24 |
| 92520 | 0.0408 | 23 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 99.55 | gold quality |
| synovial joint | UBERON:0002217 | 99.43 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 99.37 | gold quality |
| skin of hip | UBERON:0001554 | 98.92 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.76 | gold quality |
| vena cava | UBERON:0004087 | 98.54 | gold quality |
| upper arm skin | UBERON:0004263 | 98.36 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.38 | gold quality |
| pericardium | UBERON:0002407 | 96.84 | gold quality |
| right coronary artery | UBERON:0001625 | 96.73 | gold quality |
| upper leg skin | UBERON:0004262 | 96.65 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.10 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.03 | gold quality |
| trachea | UBERON:0003126 | 95.07 | gold quality |
| tibial nerve | UBERON:0001323 | 94.24 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.23 | gold quality |
| coronary artery | UBERON:0001621 | 94.06 | gold quality |
| urinary bladder | UBERON:0001255 | 93.88 | gold quality |
| apex of heart | UBERON:0002098 | 93.78 | gold quality |
| saphenous vein | UBERON:0007318 | 93.68 | gold quality |
| left coronary artery | UBERON:0001626 | 93.65 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.23 | silver quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.18 | gold quality |
| adipose tissue | UBERON:0001013 | 93.17 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.09 | gold quality |
| mammary duct | UBERON:0001765 | 92.95 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.91 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.87 | gold quality |
| lower esophagus | UBERON:0013473 | 92.78 | gold quality |
| urethra | UBERON:0000057 | 92.77 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 1113.16 |
| E-GEOD-135922 | yes | 61.62 |
| E-HCAD-11 | yes | 41.79 |
| E-MTAB-9543 | yes | 13.89 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1, SNAI1
miRNA regulators (miRDB)
95 targeting SCARA5, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| 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-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-373-3P | 99.84 | 70.68 | 1668 |
| HSA-MIR-520E-3P | 99.84 | 70.55 | 1698 |
| HSA-MIR-372-3P | 99.83 | 70.58 | 1691 |
| HSA-MIR-520A-3P | 99.83 | 70.59 | 1687 |
| HSA-MIR-520B-3P | 99.83 | 70.56 | 1699 |
| HSA-MIR-520C-3P | 99.83 | 70.56 | 1699 |
Literature-anchored findings (GeneRIF, showing 25)
- Data show that decidualization was associated with increased expression of 428 genes including SCARA5 (181-fold), DKK1 (71-fold) and PROK1 (32-fold), and decreased expression of 230 genes including MMP-7 (35-fold) and SFRP4 (21-fold). (PMID:21858178)
- Results demonstrate the involvement of SCARA3 and SCARA5 in the uptake of PF14-oligonucleotide nanocomplexes. (PMID:22138034)
- Scara5 was downregulated, pointing out this receptor as a potential player implicated in retinopathy and also as a possible therapeutic target. (PMID:25259650)
- SCARA5 and SBSN shown to have modest effects on cell proliferation or collagen gel contraction and maybe associated with peripheral vein graft patency. (PMID:25935274)
- The overexpression of SCARA5 significantly inhibited the proliferation, colony formation and migration/invasion abilities of osteosarcoma cells. (PMID:26847210)
- this study demonstrated that knockdown of SCARA5 inhibits PDGFBBinduced HASMC proliferation and migration through suppression of the PDGF signaling pathway. (PMID:27035566)
- Taken together, these results suggest that this newly identified Rock2-beta-catenin/TCF4-SCARA5 axis will provide novel insight into the understanding of the regulatory mechanisms of proliferation in human RCC. (PMID:27793664)
- The present results provide the first evidence that SCARA5 inhibits lymphangiogenesis by downregulating VEGF-C, thereby inhibiting breast cancer lymphatic metastasis. (PMID:28497372)
- The methylation status of SCARA5 gene are abnormal in Hepatocellular Carcinoma patients, which may further be used as molecular markers for early diagnosis of Liver cancer. (PMID:29019900)
- Knockdown of CSN5 increased SCARA5 expression and inhibited the proliferation and metastasis of HCC cells in vitro and in vivo. Finally, it was found that CSN5 regulated SCARA5 expression by modulating beta-catenin. (PMID:29189991)
- Scara5 has the potential to be considered as a serum biomarker in the early diagnosis of oral and squamous cell carcinoma. The clinical relevance of the study lies in finding the biomarker by proteomics and subsequently validating it with clinical samples and cell lines (PMID:29461673)
- SCARA5 may play an important role in tumorigenesis of breast cancer via promoter methylation (PMID:29908284)
- our data provide a novel evidence for the biological and clinical significance of SPAG5 as a potential biomarker, and we demonstrate that SPAG5-b-catenin-SCARA5 might be a novel pathway involved in hepatocellular carcinoma progression. (PMID:30249289)
- SCARA5 is an endocytic receptor for von Willebrand factor expressed by littoral cells in the human spleen. (PMID:31126000)
- Scavenger receptor class A, member 5 is associated with thyroid cancer cell lines progression via epithelial-mesenchymal transition. (PMID:31989658)
- SCARA5 is a Novel Biomarker in Colorectal Cancer by Comprehensive Analysis. (PMID:32658413)
- Identification of SCARA5 Gene as a Potential Immune-Related Biomarker for Triple-Negative Breast Cancer by Integrated Analysis. (PMID:32816580)
- Interactions of ferritin with scavenger receptor class A members. (PMID:32907880)
- SCARA5 suppresses the proliferation and migration, and promotes the apoptosis of human retinoblastoma cells by inhibiting the PI3K/AKT pathway. (PMID:33495818)
- Tumor suppressive effect of scavenger receptor class A member 5 overexpression in colorectal cancer by regulating PI3K/AKT/mTOR pathway. (PMID:34417976)
- Highly Expressing SCARA5 Promotes Proliferation and Migration of Esophageal Squamous Cell Carcinoma. (PMID:35755171)
- SCARA5 induced ferroptosis to effect ESCC proliferation and metastasis by combining with Ferritin light chain. (PMID:36513999)
- SCARA5 as a downstream factor of PCAT29, inhibits proliferation, migration, and invasion of bladder cancer. (PMID:37315873)
- m[6]A-mediated upregulation of lncRNA RMRP boosts the progression of bladder cancer via epigenetically suppressing SCARA5. (PMID:37337726)
- Methylated tumor suppressor gene SCARA5 inhibits the proliferation, migration and invasion of nasopharyngeal carcinoma. (PMID:37554122)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scara5 | ENSDARG00000010425 |
| mus_musculus | Scara5 | ENSMUSG00000022032 |
| rattus_norvegicus | Scara5 | ENSRNOG00000014398 |
Paralogs (3): MARCO (ENSG00000019169), MSR1 (ENSG00000038945), COLEC12 (ENSG00000158270)
Protein
Protein identifiers
Scavenger receptor class A member 5 — Q6ZMJ2 (reviewed: Q6ZMJ2)
Alternative names: Scavenger receptor hlg
All UniProt accessions (1): Q6ZMJ2
UniProt curated annotations — full annotation on UniProt →
Function. Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Preferentially binds ferritin light chain (FTL) compared to heavy chain (FTH1).
Subunit / interactions. Homotrimer.
Subcellular location. Cell membrane.
Similarity. Belongs to the SCARA5 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZMJ2-1 | 1 | yes |
| Q6ZMJ2-2 | 2 | |
| Q6ZMJ2-3 | 3 | |
| Q6ZMJ2-4 | 4 |
RefSeq proteins (4): NP_001400130, NP_001400131, NP_001400132, NP_776194* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001190 | SRCR | Domain |
| IPR008160 | Collagen | Repeat |
| IPR034726 | SCARA5 | Family |
| IPR036772 | SRCR-like_dom_sf | Homologous_superfamily |
Pfam: PF00530, PF01391
UniProt features (40 total): glycosylation site 6, strand 6, sequence conflict 5, splice variant 4, compositionally biased region 3, disulfide bond 3, helix 3, topological domain 2, sequence variant 2, domain 2, chain 1, transmembrane region 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7C00 | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZMJ2-F1 | 72.38 | 0.30 |
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 (3): 418–482, 431–492, 462–472
Glycosylation sites (6): 102, 134, 193, 231, 254, 397
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3000480 | Scavenging by Class A Receptors |
| R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
| R-HSA-5653656 | Vesicle-mediated transport |
MSigDB gene sets: 116 (showing top):
GOBP_TRANSITION_METAL_ION_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_INTRACELLULAR_IRON_ION_HOMEOSTASIS, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_IRON_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_PROTEIN_TRIMERIZATION, chr8p21, WONG_ENDMETRIUM_CANCER_DN, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_CELLULAR_RESPONSE_TO_HEAT, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, AACTTT_UNKNOWN
GO Biological Process (7): intracellular iron ion homeostasis (GO:0006879), endocytosis (GO:0006897), cellular response to heat (GO:0034605), iron ion transmembrane transport (GO:0034755), protein homotrimerization (GO:0070207), monoatomic ion transport (GO:0006811), iron ion transport (GO:0006826)
GO Molecular Function (2): ferritin receptor activity (GO:0070287), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Binding and Uptake of Ligands by Scavenger Receptors | 1 |
| Vesicle-mediated transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| intracellular monoatomic cation homeostasis | 1 |
| inorganic ion homeostasis | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| response to heat | 1 |
| cellular response to stress | 1 |
| iron ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| protein homooligomerization | 1 |
| protein trimerization | 1 |
| transport | 1 |
| transition metal ion transport | 1 |
| cargo receptor activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1396 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCARA5 | FTL | P02792 | 751 |
| SCARA5 | STAB2 | Q8WWQ8 | 686 |
| SCARA5 | VTN | P01141 | 587 |
| SCARA5 | TC2N | Q8N9U0 | 581 |
| SCARA5 | TFRC | P02786 | 568 |
| SCARA5 | FTH1 | P02794 | 521 |
| SCARA5 | LIX1 | Q8N485 | 516 |
| SCARA5 | STXBP5 | Q5T5C0 | 513 |
| SCARA5 | FGF2 | P09038 | 481 |
| SCARA5 | PAMR1 | Q6UXH9 | 457 |
| SCARA5 | CLEC4M | Q9H2X3 | 447 |
| SCARA5 | SOX2 | P48431 | 446 |
| SCARA5 | POU5F1 | P31359 | 441 |
| SCARA5 | BMP4 | P12644 | 407 |
| SCARA5 | KLF4 | P78338 | 405 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAND1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| SCARA5 | COLGALT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (29): HS3ST2 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), SCARA5 (Biochemical Activity), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), SCARA5 (Two-hybrid), TMEM208 (Two-hybrid), RNF151 (Two-hybrid), C1QL4 (Two-hybrid)
ESM2 similar proteins: A2AV25, A5PJQ2, A5PMY6, A6H6E2, B7ZNG0, O00548, O35764, O43278, O70340, O95502, P21757, P21758, P30204, P47970, P47971, P47972, P48759, P58660, P59900, P97738, Q05585, Q15818, Q24K15, Q2M1P5, Q5RFW0, Q61483, Q62443, Q6AZY7, Q6MG84, Q6ZMJ2, Q86VZ4, Q8BJS4, Q8C850, Q8CB67, Q8K299, Q8N539, Q8NI99, Q8R0Z6, Q95LU3, Q96NZ8
Diamond homologs: A1L0T3, A1L1V4, A1L4H1, A5PJQ2, A6H737, A7E3W2, B4F6N6, B5DF27, B8A4W9, E1C3U7, F1QQC3, F1RD85, F7J220, G3V801, M9NDE3, O08762, O43866, O70513, P21757, P21758, P30203, P30204, P30205, P56730, P58022, P58215, P70117, P85521, Q05585, Q07797, Q08380, Q08B63, Q14DK5, Q24JV9, Q2VL90, Q2VLG4, Q2VLG6, Q2VLH6, Q4A3R3, Q4G0T1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1546 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:27879563:CCTTA:C | donor_loss | 1.0000 |
| 8:27879564:CTTA:C | donor_loss | 1.0000 |
| 8:27879565:TTA:T | donor_loss | 1.0000 |
| 8:27879566:TA:T | donor_loss | 1.0000 |
| 8:27879567:A:T | donor_loss | 1.0000 |
| 8:27904776:A:AC | donor_gain | 1.0000 |
| 8:27904777:C:CC | donor_gain | 1.0000 |
| 8:27909657:CATTA:C | donor_loss | 1.0000 |
| 8:27909659:TTACC:T | donor_loss | 1.0000 |
| 8:27909660:TA:T | donor_loss | 1.0000 |
| 8:27909661:A:AT | donor_loss | 1.0000 |
| 8:27909662:CCTC:C | donor_loss | 1.0000 |
| 8:27909742:CC:C | acceptor_gain | 1.0000 |
| 8:27909742:CCCTG:C | acceptor_loss | 1.0000 |
| 8:27909743:CC:C | acceptor_gain | 1.0000 |
| 8:27909744:C:CC | acceptor_gain | 1.0000 |
| 8:27909744:C:CG | acceptor_loss | 1.0000 |
| 8:27909745:T:G | acceptor_loss | 1.0000 |
| 8:27966408:TCTTA:T | donor_loss | 1.0000 |
| 8:27966409:CTTAC:C | donor_loss | 1.0000 |
| 8:27966410:TTA:T | donor_loss | 1.0000 |
| 8:27966411:TACCT:T | donor_loss | 1.0000 |
| 8:27966412:A:AG | donor_loss | 1.0000 |
| 8:27966413:C:A | donor_loss | 1.0000 |
| 8:27966413:CCTG:C | donor_gain | 1.0000 |
| 8:27966541:ACC:A | acceptor_loss | 1.0000 |
| 8:27966542:CCT:C | acceptor_loss | 1.0000 |
| 8:27966543:C:CG | acceptor_loss | 1.0000 |
| 8:27966544:T:C | acceptor_loss | 1.0000 |
| 8:27987500:TCACC:T | donor_loss | 1.0000 |
AlphaMissense
3189 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:27871991:C:A | W477C | 0.999 |
| 8:27871991:C:G | W477C | 0.999 |
| 8:27879654:C:A | W422C | 0.999 |
| 8:27879654:C:G | W422C | 0.999 |
| 8:27879678:C:A | W414C | 0.999 |
| 8:27879678:C:G | W414C | 0.999 |
| 8:27872037:C:G | C462S | 0.998 |
| 8:27872038:A:T | C462S | 0.998 |
| 8:27879576:G:C | F448L | 0.998 |
| 8:27879576:G:T | F448L | 0.998 |
| 8:27879578:A:G | F448L | 0.998 |
| 8:27879667:C:T | C418Y | 0.998 |
| 8:27871977:C:G | C482S | 0.997 |
| 8:27871978:A:T | C482S | 0.997 |
| 8:27879627:G:C | C431W | 0.997 |
| 8:27879628:C:G | C431S | 0.997 |
| 8:27879629:A:T | C431S | 0.997 |
| 8:27879656:A:G | W422R | 0.997 |
| 8:27879656:A:T | W422R | 0.997 |
| 8:27879666:A:C | C418W | 0.997 |
| 8:27871947:C:G | C492S | 0.996 |
| 8:27871948:A:T | C492S | 0.996 |
| 8:27871963:C:G | D487H | 0.996 |
| 8:27871977:C:T | C482Y | 0.996 |
| 8:27872007:C:G | C472S | 0.996 |
| 8:27872008:A:T | C472S | 0.996 |
| 8:27872032:C:A | G464C | 0.996 |
| 8:27872037:C:T | C462Y | 0.996 |
| 8:27872038:A:G | C462R | 0.996 |
| 8:27872049:T:A | D458V | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000008064 (8:27986918 G>A), RS1000056635 (8:27979251 A>C), RS1000058409 (8:27984742 T>G), RS1000071709 (8:27879830 T>G), RS1000193685 (8:27946880 C>T), RS1000297764 (8:27978857 C>T), RS1000298368 (8:27974070 G>A), RS1000405147 (8:27935491 C>T), RS1000424458 (8:27897105 AAAG>A), RS1000443968 (8:27871829 G>A), RS1000448095 (8:27947363 T>C), RS1000454257 (8:27908497 G>A,C), RS1000465785 (8:27882996 A>G), RS1000467982 (8:27941627 T>A), RS1000496945 (8:27882863 G>T)
Disease associations
OMIM: gene MIM:611306 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002007_6 | Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) | 3.000000e-06 |
| GCST003210_7 | Low vWF levels | 3.000000e-07 |
| GCST007445_16 | Factor VIII levels | 3.000000e-17 |
| GCST007445_24 | Factor VIII levels | 3.000000e-10 |
| GCST007445_33 | Factor VIII levels | 7.000000e-21 |
| GCST007445_4 | Factor VIII levels | 5.000000e-16 |
| GCST007445_45 | Factor VIII levels | 1.000000e-19 |
| GCST007445_52 | Factor VIII levels | 1.000000e-19 |
| GCST007445_60 | Factor VIII levels | 6.000000e-10 |
| GCST007446_36 | vWF levels | 6.000000e-27 |
| GCST007446_45 | vWF levels | 4.000000e-08 |
| GCST007446_51 | vWF levels | 5.000000e-08 |
| GCST007446_76 | vWF levels | 9.000000e-28 |
| GCST007623_5 | Lack of premeditation | 8.000000e-07 |
| GCST009030_8 | Venous thromboembolism | 2.000000e-09 |
| GCST009442_2 | Age-related cognitive decline (executive function) (slope of z-scores) | 2.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004630 | factor VIII measurement |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| bisphenol A | affects cotreatment, decreases methylation, affects methylation | 1 |
| deoxynivalenol | decreases expression | 1 |
| 1,6-diaminohexane | increases abundance | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Methapyrilene | affects methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Particulate Matter | 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.