SCARF1
geneOn this page
Also known as SRECKIAA0149SREC1
Summary
SCARF1 (scavenger receptor class F member 1, HGNC:16820) is a protein-coding gene on chromosome 17p13.3, encoding Scavenger receptor class F member 1 (Q14162). Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL).
The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 8578 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 164 total
- MANE Select transcript:
NM_003693
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16820 |
| Approved symbol | SCARF1 |
| Name | scavenger receptor class F member 1 |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SREC, KIAA0149, SREC1 |
| Ensembl gene | ENSG00000074660 |
| Ensembl biotype | protein_coding |
| OMIM | 607873 |
| Entrez | 8578 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000263071, ENST00000434376, ENST00000570902, ENST00000571272, ENST00000573852, ENST00000573867, ENST00000574545, ENST00000576012, ENST00000860042, ENST00000933909, ENST00000955298, ENST00000955299, ENST00000955300
RefSeq mRNA: 2 — MANE Select: NM_003693
NM_003693, NM_145350
CCDS: CCDS11007, CCDS45564
Canonical transcript exons
ENST00000263071 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001327751 | 1645597 | 1645732 |
| ENSE00001624103 | 1633858 | 1635617 |
| ENSE00003532763 | 1636941 | 1637062 |
| ENSE00003545150 | 1645178 | 1645239 |
| ENSE00003556492 | 1638806 | 1638926 |
| ENSE00003604418 | 1640448 | 1640666 |
| ENSE00003623304 | 1639912 | 1640040 |
| ENSE00003642596 | 1639639 | 1639742 |
| ENSE00003670162 | 1636709 | 1636855 |
| ENSE00003678004 | 1644834 | 1644935 |
| ENSE00003688251 | 1643442 | 1643967 |
Expression profiles
Bgee: expression breadth ubiquitous, 132 present calls, max score 91.78.
FANTOM5 (CAGE): breadth broad, TPM avg 4.4257 / max 181.9079, expressed in 524 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163758 | 4.1234 | 521 |
| 163757 | 0.3023 | 47 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| spleen | UBERON:0002106 | 91.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 91.12 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.95 | gold quality |
| thyroid gland | UBERON:0002046 | 89.44 | gold quality |
| apex of heart | UBERON:0002098 | 89.33 | gold quality |
| sural nerve | UBERON:0015488 | 88.82 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 87.80 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.13 | gold quality |
| adipose tissue | UBERON:0001013 | 86.92 | gold quality |
| omental fat pad | UBERON:0010414 | 86.78 | gold quality |
| heart left ventricle | UBERON:0002084 | 85.46 | gold quality |
| lung | UBERON:0002048 | 85.41 | gold quality |
| right lung | UBERON:0002167 | 85.18 | gold quality |
| blood | UBERON:0000178 | 84.95 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 83.78 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.36 | gold quality |
| heart | UBERON:0000948 | 82.47 | gold quality |
| monocyte | CL:0000576 | 82.39 | gold quality |
| leukocyte | CL:0000738 | 81.96 | gold quality |
| myometrium | UBERON:0001296 | 81.63 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.46 | gold quality |
| placenta | UBERON:0001987 | 81.15 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.03 | gold quality |
| granulocyte | CL:0000094 | 80.71 | gold quality |
| body of uterus | UBERON:0009853 | 80.43 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.20 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.20 | gold quality |
| muscle of leg | UBERON:0001383 | 80.03 | gold quality |
| liver | UBERON:0002107 | 79.92 | gold quality |
| left uterine tube | UBERON:0001303 | 79.79 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.01 |
| E-GEOD-75367 | no | 132.14 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, SP1, ZNF444
miRNA regulators (miRDB)
60 targeting SCARF1, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 10)
- Characterization of the gene and its regulation by a novel transcription factor, endothelial zinc protein-2 (PMID:11978792)
- SRECI binds to SRECII and has a similar tissue distribution pattern (PMID:12154095)
- GP2 is a binding partner of the scavenger receptor expressed on endothelial cells I (SREC-I) but not of SR-AI and SR-BI. Dendritic cells express SREC-I and also bind and internalize GP2. (PMID:21190681)
- In several assay systems this type F-scavenger receptor, termed SREC-I, bound to cell wall techoic acid in a charge dependent manner and mediated adhesion to nasal epithelial cells in vitro. (PMID:24788600)
- These studies in addition to our earlier findings showed SREC-I to play a primary role in chaperone-associated antigen uptake both through cross priming of MHC class I molecules and entry into the class II pathway. (PMID:25155057)
- Scavenger receptor SREC-I promotes double stranded RNA-mediated TLR3 activation in human monocytes (PMID:25641411)
- SCARF-1 promotes adhesion of CD4(+) T cells to human hepatic sinusoidal endothelium under conditions of shear stress (PMID:29242513)
- Molecular and Cellular Interactions of Scavenger Receptor SR-F1 With Complement C1q Provide Insights Into Its Role in the Clearance of Apoptotic Cells. (PMID:32296440)
- The Role of SREC- in Innate Immunity to Aspergillus fumigatus Keratitis. (PMID:34236384)
- SCARF1-Induced Efferocytosis Plays an Immunomodulatory Role in Humans, and Autoantibodies Targeting SCARF1 Are Produced in Patients with Systemic Lupus Erythematosus. (PMID:35082161)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scarf1 | ENSDARG00000077285 |
| mus_musculus | Scarf1 | ENSMUSG00000038188 |
| rattus_norvegicus | Scarf1 | ENSRNOG00000059618 |
Paralogs (3): CRB3 (ENSG00000130545), CRB2 (ENSG00000148204), SCARF2 (ENSG00000244486)
Protein
Protein identifiers
Scavenger receptor class F member 1 — Q14162 (reviewed: Q14162)
Alternative names: Acetyl LDL receptor, Scavenger receptor expressed by endothelial cells 1
All UniProt accessions (2): Q14162, I3L4R9
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth.
Subunit / interactions. Heterophilic interaction with SREC2 via its extracellular domain. The heterophilic interaction is suppressed by the presence of ligand such as Ac-LDL. Interacts with AVIL.
Subcellular location. Membrane.
Tissue specificity. Endothelial cells.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14162-1 | 1, SREC-1 | yes |
| Q14162-2 | 2, SREC-5 | |
| Q14162-3 | 3, SREC-3 | |
| Q14162-4 | 4, SREC-4 | |
| Q14162-5 | 5, SREC-2 |
RefSeq proteins (2): NP_003684, NP_663325 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR002049 | LE_dom | Domain |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR042635 | MEGF10/SREC1/2-like | Family |
Pfam: PF00053
UniProt features (74 total): disulfide bond 18, strand 16, domain 6, splice variant 6, sequence variant 6, turn 5, region of interest 3, glycosylation site 3, compositionally biased region 2, modified residue 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1, helix 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8HN0 | X-RAY DIFFRACTION | 2.2 |
| 8HNA | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14162-F1 | 65.06 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 589, 606
Disulfide bonds (18): 57–69, 63–75, 77–86, 99–111, 105–118, 120–129, 159–172, 165–179, 181–190, 219–230, 225–237, 239–248, 306–319, 313–326, 329–338, 355–363, 358–370, 372–381
Glycosylation sites (3): 289, 382, 393
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3000484 | Scavenging by Class F Receptors |
| R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
| R-HSA-5653656 | Vesicle-mediated transport |
MSigDB gene sets: 203 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_NEURON_MATURATION, GOBP_REGENERATION, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_RESPONSE_TO_AXON_INJURY, GGGTGGRR_PAX4_03, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_MATURATION, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING
GO Biological Process (8): cholesterol catabolic process (GO:0006707), receptor-mediated endocytosis (GO:0006898), heterophilic cell-cell adhesion (GO:0007157), positive regulation of neuron projection development (GO:0010976), neuron remodeling (GO:0016322), dendrite development (GO:0016358), positive regulation of axon regeneration (GO:0048680), cell adhesion (GO:0007155)
GO Molecular Function (4): transmembrane signaling receptor activity (GO:0004888), scavenger receptor activity (GO:0005044), low-density lipoprotein particle binding (GO:0030169), protein binding (GO:0005515)
GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), endocytic vesicle membrane (GO:0030666)
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 |
|---|---|
| neuron projection development | 2 |
| cholesterol metabolic process | 1 |
| sterol catabolic process | 1 |
| alcohol catabolic process | 1 |
| endocytosis | 1 |
| cell-cell adhesion | 1 |
| regulation of neuron projection development | 1 |
| positive regulation of cell projection organization | 1 |
| neuron maturation | 1 |
| anatomical structure development | 1 |
| axon regeneration | 1 |
| positive regulation of response to external stimulus | 1 |
| regulation of axon regeneration | 1 |
| positive regulation of neuron projection regeneration | 1 |
| positive regulation of response to wounding | 1 |
| cellular process | 1 |
| signaling receptor activity | 1 |
| cargo receptor activity | 1 |
| lipoprotein particle binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| endocytic vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCARF1 | STAB1 | Q9NY15 | 861 |
| SCARF1 | PITPNA | Q00169 | 857 |
| SCARF1 | HYOU1 | Q9Y4L1 | 855 |
| SCARF1 | SCARB1 | Q8WTV0 | 835 |
| SCARF1 | SCARB2 | Q14108 | 832 |
| SCARF1 | CD36 | P16671 | 830 |
| SCARF1 | TLR2 | O60603 | 799 |
| SCARF1 | YWHAE | P29360 | 790 |
| SCARF1 | ZNF444 | Q8N0Y2 | 789 |
| SCARF1 | CRK | P46108 | 776 |
| SCARF1 | BHLHA9 | Q7RTU4 | 759 |
| SCARF1 | HSPA4 | P34932 | 754 |
| SCARF1 | PAFAH1B1 | P43034 | 754 |
| SCARF1 | CALR | P27797 | 752 |
| SCARF1 | CLEC7A | Q9BXN2 | 739 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SCARF1 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | GJA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | MRM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | TGM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | KRTAP5-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | LCE1D | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | FAM209A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA8 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | LHFPL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNJ6 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN7 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR37L1 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COQ9 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEMP1 | SCARF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCARF1 | SLC7A14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TAGLN | LOC392647 | psi-mi:“MI:0914”(association) | 0.350 |
| SCARF1 | TGM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCARF1 | KRTAP5-7 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SCARF1 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (20): SCARF1 (Two-hybrid), COQ9 (Two-hybrid), TGM1 (Two-hybrid), MEOX2 (Two-hybrid), GJA8 (Two-hybrid), FAM209A (Two-hybrid), LHFPL2 (Two-hybrid), KCNJ6 (Two-hybrid), CREB3L1 (Two-hybrid), GPX8 (Two-hybrid), TMEM194A (Two-hybrid), GPR37L1 (Two-hybrid), HSD17B13 (Two-hybrid), RNMTL1 (Two-hybrid), LCE1D (Two-hybrid)
ESM2 similar proteins: A4FV93, A5A8Y8, B2LW77, D3ZUK3, O00468, O70534, O75074, O88204, O88839, O95407, P06579, P07204, P15306, P60882, P80370, Q09163, Q13444, Q14162, Q3SWY4, Q501P1, Q53RD9, Q5ND28, Q5VY43, Q5W7P8, Q61810, Q6AZ60, Q6GUQ1, Q6MG84, Q6UY11, Q71U07, Q75N90, Q7Z7M0, Q8K1E3, Q8K1S7, Q8K4G1, Q8NCW0, Q8ND94, Q8VIK5, Q8WUT4, Q93038
Diamond homologs: P59222, Q14162, Q5ND28, Q6AZ60, Q96GP6, Q9QXT5, Q14766, Q8CG19, A0JM12, A6BM72, E9QJQ6, Q6DIB5, Q80T91, Q96KG7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 22 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 |
|---|---|---|---|
| Keratinization | 5 | 18.6× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
164 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 135 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1515 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:1636856:C:CC | acceptor_gain | 1.0000 |
| 17:1637058:CTGGC:C | acceptor_gain | 1.0000 |
| 17:1637059:TGGC:T | acceptor_gain | 1.0000 |
| 17:1637063:C:CC | acceptor_gain | 1.0000 |
| 17:1637063:CTG:C | acceptor_loss | 1.0000 |
| 17:1637064:T:C | acceptor_loss | 1.0000 |
| 17:1639633:CCTTA:C | donor_loss | 1.0000 |
| 17:1639634:CTTAC:C | donor_loss | 1.0000 |
| 17:1639635:TTAC:T | donor_loss | 1.0000 |
| 17:1639636:TACCT:T | donor_loss | 1.0000 |
| 17:1639637:A:AG | donor_loss | 1.0000 |
| 17:1639743:C:CC | acceptor_gain | 1.0000 |
| 17:1635616:CCCTG:C | acceptor_loss | 0.9900 |
| 17:1635618:CTG:C | acceptor_loss | 0.9900 |
| 17:1635619:T:A | acceptor_loss | 0.9900 |
| 17:1636711:T:A | donor_gain | 0.9900 |
| 17:1636743:ATCTG:A | donor_gain | 0.9900 |
| 17:1636744:T:C | donor_gain | 0.9900 |
| 17:1636854:GA:G | acceptor_gain | 0.9900 |
| 17:1636937:TGAC:T | donor_loss | 0.9900 |
| 17:1636938:GACC:G | donor_loss | 0.9900 |
| 17:1636939:A:C | donor_loss | 0.9900 |
| 17:1636940:CCT:C | donor_loss | 0.9900 |
| 17:1636940:CCTG:C | donor_gain | 0.9900 |
| 17:1636942:TGTC:T | donor_gain | 0.9900 |
| 17:1637060:GGC:G | acceptor_gain | 0.9900 |
| 17:1637061:GC:G | acceptor_gain | 0.9900 |
| 17:1637062:CC:C | acceptor_gain | 0.9900 |
| 17:1638340:T:A | donor_gain | 0.9900 |
| 17:1639638:CCTGG:C | donor_gain | 0.9900 |
AlphaMissense
5367 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:1645206:C:A | W45C | 0.998 |
| 17:1645206:C:G | W45C | 0.998 |
| 17:1643675:C:A | W186C | 0.997 |
| 17:1643675:C:G | W186C | 0.997 |
| 17:1643948:C:A | W95C | 0.997 |
| 17:1643948:C:G | W95C | 0.997 |
| 17:1643858:C:A | W125C | 0.996 |
| 17:1643858:C:G | W125C | 0.996 |
| 17:1643768:C:A | W155C | 0.995 |
| 17:1643768:C:G | W155C | 0.995 |
| 17:1644869:C:G | C77S | 0.994 |
| 17:1644870:A:T | C77S | 0.994 |
| 17:1645186:C:G | C52S | 0.994 |
| 17:1645187:A:T | C52S | 0.994 |
| 17:1635475:G:C | F592L | 0.993 |
| 17:1635475:G:T | F592L | 0.993 |
| 17:1635477:A:G | F592L | 0.993 |
| 17:1643588:C:A | W215C | 0.993 |
| 17:1643588:C:G | W215C | 0.993 |
| 17:1643901:C:G | C111S | 0.993 |
| 17:1643902:A:T | C111S | 0.993 |
| 17:1643964:C:G | C90S | 0.993 |
| 17:1643965:A:T | C90S | 0.993 |
| 17:1643936:G:C | C99W | 0.992 |
| 17:1643937:C:G | C99S | 0.992 |
| 17:1643938:A:T | C99S | 0.992 |
| 17:1644841:G:C | C86W | 0.992 |
| 17:1644842:C:G | C86S | 0.992 |
| 17:1644843:A:T | C86S | 0.992 |
| 17:1643704:C:A | G177C | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000198744 (17:1643779 G>C,T), RS1000464998 (17:1647198 G>A), RS1000571232 (17:1642499 A>G), RS1001023622 (17:1641725 A>T), RS1001289560 (17:1647276 A>G), RS1001540968 (17:1641802 A>G), RS1001590531 (17:1647510 GAAT>G), RS1001690931 (17:1637500 C>A), RS1001692572 (17:1637206 T>A,C,G), RS1001743173 (17:1637764 G>A), RS1002006792 (17:1636361 G>A,T), RS1002059105 (17:1636550 T>C), RS1002205595 (17:1647094 G>A), RS1002318513 (17:1646891 C>T), RS1002478704 (17:1634650 T>C)
Disease associations
OMIM: gene MIM:607873 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_1671 | Blood protein levels | 7.000000e-60 |
| GCST007354_17 | Intracranial aneurysm | 6.000000e-09 |
| GCST90002405_325 | Reticulocyte count | 3.000000e-22 |
| GCST90002406_449 | Reticulocyte fraction of red cells | 2.000000e-22 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 3 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | affects splicing | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| TL8-506 | increases expression, affects cotreatment | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| titanium dioxide | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7HF | Ubigene HEK293T SCARF1 KO | Transformed cell line | Female |
| CVCL_D9RB | Ubigene HEK293 SCARF1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm