SIRPB1
gene geneOn this page
Also known as SIRP-BETA-1CD172bSIRB1
Summary
SIRPB1 (signal regulatory protein beta 1, HGNC:15928) is a protein-coding gene on chromosome 20p13, encoding Signal-regulatory protein beta-1 (O00241). Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes.
The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10326 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 82 total
- MANE Select transcript:
NM_006065
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15928 |
| Approved symbol | SIRPB1 |
| Name | signal regulatory protein beta 1 |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SIRP-BETA-1, CD172b, SIRB1 |
| Ensembl gene | ENSG00000101307 |
| Ensembl biotype | protein_coding |
| OMIM | 603889 |
| Entrez | 10326 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 17 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000262929, ENST00000279477, ENST00000381596, ENST00000381603, ENST00000381605, ENST00000562014, ENST00000563840, ENST00000565076, ENST00000565087, ENST00000565230, ENST00000565775, ENST00000566055, ENST00000568365, ENST00000569387, ENST00000569629, ENST00000876186, ENST00000876187, ENST00000969009, ENST00000969010, ENST00000969011
RefSeq mRNA: 5 — MANE Select: NM_006065
NM_001083910, NM_001135844, NM_001329157, NM_001330639, NM_006065
CCDS: CCDS13019, CCDS42850, CCDS46571, CCDS82591
Canonical transcript exons
ENST00000381605 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001165691 | 1566153 | 1566267 |
| ENSE00001603289 | 1571720 | 1572037 |
| ENSE00001792474 | 1570805 | 1571137 |
| ENSE00001958710 | 1561385 | 1565497 |
| ENSE00003573334 | 1578338 | 1578694 |
| ENSE00003899766 | 1619869 | 1620009 |
Expression profiles
Bgee: expression breadth ubiquitous, 173 present calls, max score 97.71.
FANTOM5 (CAGE): breadth broad, TPM avg 13.9686 / max 2498.3457, expressed in 436 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186041 | 10.9682 | 361 |
| 186038 | 2.2259 | 175 |
| 186040 | 0.6545 | 177 |
| 186039 | 0.1199 | 50 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 97.71 | gold quality |
| mononuclear cell | CL:0000842 | 96.82 | gold quality |
| leukocyte | CL:0000738 | 96.78 | gold quality |
| granulocyte | CL:0000094 | 94.21 | gold quality |
| blood | UBERON:0000178 | 93.72 | gold quality |
| right lung | UBERON:0002167 | 88.92 | gold quality |
| spleen | UBERON:0002106 | 85.78 | gold quality |
| bone marrow | UBERON:0002371 | 85.36 | gold quality |
| bone marrow cell | CL:0002092 | 84.82 | gold quality |
| vermiform appendix | UBERON:0001154 | 83.75 | gold quality |
| gall bladder | UBERON:0002110 | 83.21 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 82.20 | gold quality |
| caecum | UBERON:0001153 | 81.71 | gold quality |
| diaphragm | UBERON:0001103 | 80.19 | gold quality |
| lymph node | UBERON:0000029 | 79.84 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 79.19 | gold quality |
| buccal mucosa cell | CL:0002336 | 78.43 | gold quality |
| upper lobe of lung | UBERON:0008948 | 78.18 | gold quality |
| sperm | CL:0000019 | 77.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.83 | gold quality |
| male germ cell | CL:0000015 | 76.56 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 73.85 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 73.14 | gold quality |
| gingival epithelium | UBERON:0001949 | 72.80 | gold quality |
| olfactory bulb | UBERON:0002264 | 71.39 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 71.39 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.29 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 71.23 | gold quality |
| hair follicle | UBERON:0002073 | 70.69 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 69.86 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 25.55 |
| E-ANND-3 | yes | 12.33 |
| E-MTAB-9801 | yes | 6.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting SIRPB1, 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-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-3616-5P | 99.55 | 67.02 | 989 |
| HSA-MIR-573 | 99.55 | 67.44 | 955 |
Literature-anchored findings (GeneRIF, showing 9)
- SIRP beta 1 is a disulfide-linked homodimer in leukocytes that regulates neutrophil transepithelial migration (PMID:16081415)
- This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
- Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
- SIRPbeta1 is a novel IFN-induced microglial receptor that supports clearance of neural debris and Abeta aggregates by stimulating phagocytosis. (PMID:19893026)
- A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
- SIRPB1 copy-number polymorphism was significantly associated with impulsive-disinhibited personality scores in a dose-dependent manner. (PMID:25039969)
- Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. (PMID:31349540)
- An Insertion Within SIRPbeta1 Shows a Dual Effect Over Alzheimer’s Disease Cognitive Decline Altering the Microglial Response. (PMID:38427484)
- SIRPB1 regulates inflammatory factor expression in the glioma microenvironment via SYK: functional and bioinformatics insights. (PMID:38594692)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sirpa | ENSMUSG00000037902 |
| mus_musculus | Sirpb1c | ENSMUSG00000074677 |
| mus_musculus | Gm5150 | ENSMUSG00000078780 |
| mus_musculus | Sirpd | ENSMUSG00000078783 |
| mus_musculus | Sirpb1b | ENSMUSG00000095028 |
| mus_musculus | Sirpb1a | ENSMUSG00000095788 |
| rattus_norvegicus | Sirpa | ENSRNOG00000004763 |
| rattus_norvegicus | LOC100909964 | ENSRNOG00000043478 |
| rattus_norvegicus | AABR07008876.1 | ENSRNOG00000053292 |
Paralogs (4): SIRPG (ENSG00000089012), SIRPD (ENSG00000125900), SIRPB2 (ENSG00000196209), SIRPA (ENSG00000198053)
Protein
Protein identifiers
Signal-regulatory protein beta-1 — O00241 (reviewed: O00241, Q5TFQ8)
Alternative names: CD172 antigen-like family member B
All UniProt accessions (9): O00241, Q5TFQ8, H3BQ21, H3BRP9, H3BSK5, H3BTT9, H3BU43, H3BUW0, H9KV29
UniProt curated annotations — full annotation on UniProt →
Function. Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Also participates in the recruitment of tyrosine kinase SYK. Triggers activation of myeloid cells when associated with TYROBP.
Subunit / interactions. Homodimer; disulfide-linked. Interacts with TYROBP. This interaction results in the recruitment of SYK.
Subcellular location. Cell membrane.
Tissue specificity. Detected in monocytes and dendritic cells.
Post-translational modifications. N-glycosylated.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00241-1 | 1 | yes |
| O00241-2 | 2 | |
| Q5TFQ8-1 | 3 |
RefSeq proteins (5): NP_001077379, NP_001129316, NP_001316086, NP_001317568, NP_006056* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003597 | Ig_C1-set | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR051755 | Ig-like_CS_Receptor | Family |
Pfam: PF07654, PF07686
UniProt features (65 total): strand 24, glycosylation site 6, disulfide bond 6, sequence variant 6, domain 6, topological domain 4, signal peptide 2, chain 2, sequence conflict 2, helix 2, transmembrane region 2, splice variant 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2JJU | X-RAY DIFFRACTION | 1.19 |
| 2JJV | X-RAY DIFFRACTION | 1.8 |
| 2D9C | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00241-F1 | 84.76 | 0.66 |
| AF-Q5TFQ8-F1 | 85.61 | 0.67 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
O00241 (canonical)
Disulfide bonds (3): 54–120, 169–227, 320
Glycosylation sites (3): 291, 244, 269
Q5TFQ8
Disulfide bonds (3): 54–120, 169–227, 272–330
Glycosylation sites (3): 244, 291, 318
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-2172127 | DAP12 interactions |
| R-HSA-391160 | Signal regulatory protein family interactions |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-1500931 | Cell-Cell communication |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 158 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOCC_SECRETORY_GRANULE, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GCM_PRKCG, GOBP_CELL_CELL_ADHESION, GCM_RING1, GCM_FCGR2B, OUELLET_CULTURED_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ACTIVATION
GO Biological Process (4): signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), positive regulation of phagocytosis (GO:0050766), positive regulation of T cell activation (GO:0050870)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), secretory granule membrane (GO:0030667), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 2 |
| Cell-Cell communication | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| signal transduction | 1 |
| phagocytosis | 1 |
| positive regulation of endocytosis | 1 |
| regulation of phagocytosis | 1 |
| T cell activation | 1 |
| regulation of T cell activation | 1 |
| positive regulation of lymphocyte activation | 1 |
| positive regulation of leukocyte cell-cell adhesion | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
1123 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIRPB1 | TYROBP | O43914 | 990 |
| SIRPB1 | CD47 | Q08722 | 905 |
| SIRPB1 | FCER1G | P30273 | 732 |
| SIRPB1 | PTPN11 | Q06124 | 707 |
| SIRPB1 | TREM2 | Q9NZC2 | 690 |
| SIRPB1 | OSCAR | Q8IYS5 | 581 |
| SIRPB1 | TREM1 | Q9NP99 | 508 |
| SIRPB1 | CD200R1 | Q8TD46 | 463 |
| SIRPB1 | CLEC5A | Q9NY25 | 446 |
| SIRPB1 | TMEM86B | Q8N661 | 411 |
| SIRPB1 | SIRPA | P78324 | 407 |
| SIRPB1 | ZNF654 | Q8IZM8 | 397 |
| SIRPB1 | TMEM265 | A0A087WTH1 | 390 |
| SIRPB1 | PTGR3 | Q8N4Q0 | 389 |
| SIRPB1 | IGLL1 | P15814 | 381 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TYROBP | SIRPB1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| SIRPB1 | TYROBP | psi-mi:“MI:0915”(physical association) | 0.520 |
| SIRPB1 | CD47 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SIRPB1 | Syk | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIRPB1 | PTPRF | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SIRPA | SIRPB1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): SIRPB1 (Two-hybrid), SIRPB1 (Two-hybrid), RBPMS (Two-hybrid), SIRPB1 (Two-hybrid), APOC1 (Two-hybrid), BPIFA1 (Two-hybrid), SIRPB1 (Affinity Capture-MS), TYROBP (Affinity Capture-Western), SIRPB1 (Affinity Capture-Western), TYROBP (Affinity Capture-Western), SYK (Affinity Capture-Western), SIRPB1 (Affinity Capture-MS), SIRPB1 (Affinity Capture-MS), SIRPB1 (Cross-Linking-MS (XL-MS)), SIRPA (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A0R4IGV4, A0A8M2B818, A0JM41, A2VD98, B0CLX4, B6ZK77, D3YX43, F1LW30, O00241, O18906, O54901, O88775, O95256, P00545, P04218, P0C673, P10522, P13369, P17948, P21995, P27931, P35916, P35917, P35969, P37301, P42071, P42703, P53767, Q08DK1, Q15762, Q58EG3, Q5DX21, Q5FWR8, Q5R412, Q5U2P2, Q5VJ70, Q6GMZ9, Q6PCB8, Q6X936, Q7TSN7
Diamond homologs: O00241, O46631, P01691, P01844, P01845, P01847, P01915, P04230, P04231, P18211, P18468, P18469, P18470, P20040, P78324, P97710, P97797, Q5JXA9, Q5TFQ8, Q9H106, Q9P1W8, Q9PWR4, P55899, Q29980, A0A5B9, A0M8Q6, B9A064, O42197, P01834, P01835, P01836, P01837, P01838, P01839, P01840, P01841, P01843, P01846, P01850, P01854
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 10 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:1598820:A:AC | donor_gain | 1.0000 |
| 20:1598821:C:CC | donor_gain | 1.0000 |
| 20:1598821:CAGT:C | donor_gain | 1.0000 |
| 20:1611356:CCA:C | donor_gain | 1.0000 |
| 20:1611356:CCACG:C | donor_gain | 1.0000 |
| 20:1578329:TGTAC:T | donor_loss | 0.9900 |
| 20:1578330:GTACT:G | donor_loss | 0.9900 |
| 20:1578331:TACT:T | donor_loss | 0.9900 |
| 20:1578332:AC:A | donor_loss | 0.9900 |
| 20:1578333:CT:C | donor_loss | 0.9900 |
| 20:1578334:TCACC:T | donor_loss | 0.9900 |
| 20:1578335:CACCG:C | donor_loss | 0.9900 |
| 20:1578337:C:CT | donor_loss | 0.9900 |
| 20:1578337:CCGCG:C | donor_gain | 0.9900 |
| 20:1598821:CA:C | donor_gain | 0.9900 |
| 20:1611348:TGTAC:T | donor_loss | 0.9900 |
| 20:1611349:GTACT:G | donor_loss | 0.9900 |
| 20:1611350:TACT:T | donor_loss | 0.9900 |
| 20:1611351:AC:A | donor_loss | 0.9900 |
| 20:1611352:CT:C | donor_loss | 0.9900 |
| 20:1611353:TCACC:T | donor_loss | 0.9900 |
| 20:1611354:CACCA:C | donor_loss | 0.9900 |
| 20:1611355:A:AC | donor_gain | 0.9900 |
| 20:1611355:A:AG | donor_loss | 0.9900 |
| 20:1611356:C:CC | donor_gain | 0.9900 |
| 20:1611711:CCC:C | acceptor_gain | 0.9900 |
| 20:1611712:CC:C | acceptor_gain | 0.9900 |
| 20:1611712:CCC:C | acceptor_gain | 0.9900 |
| 20:1611713:CC:C | acceptor_gain | 0.9900 |
| 20:1611713:CCT:C | acceptor_loss | 0.9900 |
AlphaMissense
2572 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:1571949:G:C | F174L | 0.979 |
| 20:1571949:G:T | F174L | 0.979 |
| 20:1571951:A:G | F174L | 0.979 |
| 20:1578570:C:A | W67C | 0.976 |
| 20:1578570:C:G | W67C | 0.976 |
| 20:1578572:A:G | W67R | 0.972 |
| 20:1578572:A:T | W67R | 0.972 |
| 20:1578412:C:G | C120S | 0.970 |
| 20:1578413:A:T | C120S | 0.970 |
| 20:1571058:G:C | F277L | 0.969 |
| 20:1571058:G:T | F277L | 0.969 |
| 20:1571060:A:G | F277L | 0.969 |
| 20:1571924:A:G | W183R | 0.969 |
| 20:1571924:A:T | W183R | 0.969 |
| 20:1578610:C:G | C54S | 0.969 |
| 20:1578611:A:T | C54S | 0.969 |
| 20:1578419:A:C | Y118D | 0.965 |
| 20:1578411:A:C | C120W | 0.957 |
| 20:1578412:C:T | C120Y | 0.954 |
| 20:1578402:G:C | F123L | 0.953 |
| 20:1578402:G:T | F123L | 0.953 |
| 20:1578404:A:G | F123L | 0.953 |
| 20:1578413:A:G | C120R | 0.953 |
| 20:1571074:C:G | C272S | 0.949 |
| 20:1571075:A:T | C272S | 0.949 |
| 20:1578611:A:G | C54R | 0.946 |
| 20:1571033:A:G | W286R | 0.945 |
| 20:1571033:A:T | W286R | 0.945 |
| 20:1571922:C:A | W183C | 0.944 |
| 20:1571922:C:G | W183C | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000311208 (20:1618283 T>C), RS1000372415 (20:1617448 C>A), RS1000479513 (20:1571663 A>G), RS1000592171 (20:1567076 T>A), RS1000743664 (20:1617198 C>T), RS1000907907 (20:1586637 C>G), RS1000930883 (20:1562111 C>T), RS1000987890 (20:1608425 C>T), RS1001007838 (20:1562453 C>A,G), RS1001158200 (20:1573109 C>T), RS1001170886 (20:1594861 T>G), RS1001236876 (20:1585304 A>G), RS1001290780 (20:1608702 G>A), RS1001339778 (20:1563812 T>A,C), RS1001515090 (20:1562614 T>C)
Disease associations
OMIM: gene MIM:603889 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_203 | Mean platelet volume | 3.000000e-41 |
| GCST006585_87 | Blood protein levels | 5.000000e-226 |
| GCST009391_950 | Metabolite levels | 3.000000e-06 |
| GCST011096_27 | Systemic lupus erythematosus | 3.000000e-08 |
| GCST90002389_412 | Lymphocyte percentage of white cells | 9.000000e-10 |
| GCST90002393_676 | Monocyte count | 4.000000e-17 |
| GCST90002395_582 | Mean platelet volume | 3.000000e-100 |
| GCST90002398_95 | Neutrophil count | 1.000000e-10 |
| GCST90002400_103 | Plateletcrit | 5.000000e-30 |
| GCST90002401_303 | Platelet distribution width | 9.000000e-21 |
| GCST90002407_637 | White blood cell count | 6.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010403 | triacylglycerol 48:0 measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| clothianidin | increases expression | 1 |
| NSC 689534 | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Allergens | decreases expression | 1 |
| Azacitidine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Bucladesine | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Smoke | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 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.