ICAM4
gene geneOn this page
Also known as CD242
Summary
ICAM4 (intercellular adhesion molecule 4 (Landsteiner-Wiener blood group), HGNC:5347) is a protein-coding gene on chromosome 19p13.2, encoding Intercellular adhesion molecule 4 (Q14773). Functions as a receptor ligand for the monocyte/macrophage-specific ITGAX:ITGB2 integrin complex and mediates erythrophagocytosis.
This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 3386 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 58 total
- MANE Select transcript:
NM_001544
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5347 |
| Approved symbol | ICAM4 |
| Name | intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD242 |
| Ensembl gene | ENSG00000105371 |
| Ensembl biotype | protein_coding |
| OMIM | 614088 |
| Entrez | 3386 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000340992, ENST00000380770, ENST00000393717, ENST00000929145
RefSeq mRNA: 2 — MANE Select: NM_001544
NM_001039132, NM_001544
CCDS: CCDS12232, CCDS32904
Canonical transcript exons
ENST00000380770 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001188319 | 10287536 | 10287838 |
| ENSE00002843172 | 10286955 | 10287406 |
| ENSE00002843212 | 10287986 | 10288520 |
Expression profiles
Bgee: expression breadth ubiquitous, 146 present calls, max score 80.06.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4080 / max 138.9877, expressed in 578 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173772 | 0.9537 | 171 |
| 173771 | 0.9497 | 348 |
| 173770 | 0.3716 | 157 |
| 173773 | 0.0698 | 36 |
| 173774 | 0.0633 | 30 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.06 | gold quality |
| monocyte | CL:0000576 | 78.09 | gold quality |
| leukocyte | CL:0000738 | 77.54 | gold quality |
| mononuclear cell | CL:0000842 | 77.46 | gold quality |
| granulocyte | CL:0000094 | 76.48 | gold quality |
| bone marrow | UBERON:0002371 | 74.07 | gold quality |
| stromal cell of endometrium | CL:0002255 | 73.07 | gold quality |
| blood | UBERON:0000178 | 72.27 | gold quality |
| right lung | UBERON:0002167 | 71.56 | gold quality |
| amniotic fluid | UBERON:0000173 | 70.67 | gold quality |
| bone marrow cell | CL:0002092 | 70.02 | silver quality |
| sperm | CL:0000019 | 69.78 | silver quality |
| male germ cell | CL:0000015 | 68.25 | silver quality |
| trabecular bone tissue | UBERON:0002483 | 67.45 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 66.27 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 65.37 | gold quality |
| upper lobe of lung | UBERON:0008948 | 64.94 | gold quality |
| lung | UBERON:0002048 | 64.78 | gold quality |
| periodontal ligament | UBERON:0008266 | 60.70 | gold quality |
| visceral pleura | UBERON:0002401 | 59.09 | gold quality |
| pylorus | UBERON:0001166 | 58.87 | gold quality |
| saphenous vein | UBERON:0007318 | 58.87 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 58.77 | gold quality |
| pericardium | UBERON:0002407 | 58.68 | gold quality |
| nipple | UBERON:0002030 | 58.35 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 58.26 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 58.20 | gold quality |
| synovial joint | UBERON:0002217 | 58.19 | gold quality |
| cartilage tissue | UBERON:0002418 | 58.11 | silver quality |
| pons | UBERON:0000988 | 58.07 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-6 | yes | 47.77 |
| E-HCAD-10 | no | 2.39 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA2
miRNA regulators (miRDB)
13 targeting ICAM4, 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-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-223-5P | 99.24 | 68.82 | 1206 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-153-3P | 98.96 | 72.51 | 1644 |
| HSA-MIR-2355-5P | 98.83 | 65.51 | 1589 |
| HSA-MIR-4691-3P | 98.11 | 66.83 | 1204 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-4671-5P | 97.10 | 65.70 | 93 |
Literature-anchored findings (GeneRIF, showing 18)
- ICAM-4 as the first red blood cells protein ligand of platelets that may have relevant physiological significance (PMID:12477717)
- binds to the I domains of the CD11a/CD18 and CD11b/CD18 leukocyte integrins (PMID:12694184)
- 12 single amino-acid changes in ICAM4 affected the interaction of ICAM-4 with alpha(V) integrins (PMID:14551135)
- LW on sickle but not on normal erythrocytes undergoes increased PKA-dependent serine phosphorylation as a result of activation. The major counter receptor for LW was identified as the alphavbeta3 integrin on ECs (PMID:15308566)
- Different integrins bind to different but partly overlapping sites on ICAM4, and ICAM4 may accommodate multiple integrin receptors present on leukocytes, platelets and endothelial cells. (PMID:15355350)
- Review. LW antigen contributes to RBC adhesion, thrombosis, and (in sickle cell disease) vaso-occlusion. (PMID:16564726)
- We show that ICAM-4 functions as a ligand for the monocyte/macrophage-specific CD11c/CD18. Deletion of the individual immunoglobulin domains of ICAM-4 demonstrated that both its domains contain binding sites for CD11c/CD18. (PMID:16985175)
- LW play potentially pathophysiological roles in sickle cell disease (PMID:17609430)
- LWa allele occurs with incidence of 100% of donors in this study, while LWb allele has not been found in Chinese population. (PMID:18549656)
- In a transgenic mouse model of sickle cell disease ICAM-4 is implicated in abnormal adhesiveness of erythrocytes to endothelium. (PMID:20015873)
- Erythrocyte plasma membrane-bound ERK1/2 activation promotes ICAM-4-mediated sickle red cell adhesion to endothelium. (PMID:22147898)
- Data from differentiating cultured erythroid precursor cells suggest that RhAG (Rh-associated glycoprotein) knockdown abolishes Rh blood group expression (ICAM4; RhoD [ras homolog family member D]; CD47 Rh-related antigen) in erythroid cells. (PMID:23417980)
- Seven variant ICAM4 alleles were found, distinct from the wild-type ICAM4 allele (GenBank KF712272), known as LW*05 and encoding LW(a) . (PMID:24673173)
- ICAM-1 and ICAM-4 play roles in host cell invasion by M. tuberculosis and P. falciparum, respectively. (PMID:25586702)
- Cytometry analysis evidenced a specific expression profile on reticulocytes of SCA infants, with notably an increased expression of the adhesion molecules Lu/BCAM, ICAM-4 and LFA-3, both in percentage of positive cells and in surface density. (PMID:26137540)
- the effect of modulation of the cAMP-PKA-dependent pathway on ICAM-4 receptor activation (PMID:28076805)
- Immunological Study of IFN-gamma, ICAM-4, and Vitamin D3 Markers among Gastrointestinal Tumor Patients in Babylon Province, Iraq. (PMID:36708580)
- DNA methylation of ICAM4 and NOXO1 participate in the formation of uterine fibroids via regulating immune cell infiltration. (PMID:38015525)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Icam4 | ENSMUSG00000001014 |
| rattus_norvegicus | Icam4 | ENSRNOG00000042078 |
Paralogs (4): ICAM3 (ENSG00000076662), ICAM1 (ENSG00000090339), ICAM5 (ENSG00000105376), ICAM2 (ENSG00000108622)
Protein
Protein identifiers
Intercellular adhesion molecule 4 — Q14773 (reviewed: Q14773)
Alternative names: Landsteiner-Wiener blood group glycoprotein
All UniProt accessions (2): Q14773, U5U6P8
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a receptor ligand for the monocyte/macrophage-specific ITGAX:ITGB2 integrin complex and mediates erythrophagocytosis. Receptor ligand of the platelet-specific ITGA2B:ITGB3 integrin complex involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets. In vitro, is also a receptor ligand of multiple integrin receptors complexes such ITGAL:ITGB2, ITGAM:ITGB2, ITGA5:ITGB1, ITGA5:ITGB3 and ITGA5:ITGB5 integrin complexes.
Subcellular location. Cell membrane Secreted Cell membrane.
Tissue specificity. Erythrocytes.
Post-translational modifications. N- and O-glycosylated.
Polymorphism. Responsible for the Landsteiner-Wiener blood group system [MIM:111250]. The molecular basis of the LW(A)=LW5/LW(B)=LW7 blood group antigens is a single variation in position 100; Gln-100 corresponds to LW(A) and Arg-100 to LW(B).
Similarity. Belongs to the immunoglobulin superfamily. ICAM family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14773-1 | Long | yes |
| Q14773-2 | Short | |
| Q14773-3 | 3 |
RefSeq proteins (2): NP_001034221, NP_001535* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003987 | ICAM_VCAM_N | Domain |
| IPR013768 | ICAM_N | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR047012 | ICAM_VCAM | Family |
Pfam: PF03921
UniProt features (20 total): glycosylation site 4, disulfide bond 4, splice variant 2, sequence variant 2, topological domain 2, domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14773-F1 | 83.83 | 0.65 |
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): 69–117, 69–113, 73–117, 153–210
Glycosylation sites (4): 223, 68, 78, 190
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-216083 | Integrin cell surface interactions |
MSigDB gene sets: 139 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, BENPORATH_ES_WITH_H3K27ME3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_64, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_VESICLE_MEDIATED_TRANSPORT, AAAYRNCTG_UNKNOWN, GNF2_ANK1, GOBP_CELL_CELL_ADHESION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GATA1_04, GFI1_01, GOBP_LEUKOCYTE_CELL_CELL_ADHESION, GOBP_CELL_ADHESION_MEDIATED_BY_INTEGRIN, GOMF_SIGNALING_RECEPTOR_BINDING
GO Biological Process (6): phagocytosis (GO:0006909), cell adhesion (GO:0007155), leukocyte cell-cell adhesion (GO:0007159), cell-cell adhesion mediated by integrin (GO:0033631), heterotypic cell-cell adhesion (GO:0034113), cell-cell adhesion (GO:0098609)
GO Molecular Function (3): integrin binding (GO:0005178), receptor ligand activity (GO:0048018), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 3 |
| signaling receptor binding | 2 |
| cellular anatomical structure | 2 |
| endocytosis | 1 |
| cellular process | 1 |
| cell adhesion mediated by integrin | 1 |
| cell adhesion | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
452 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ICAM4 | ITGB2 | P05107 | 965 |
| ICAM4 | ICAM1 | P05362 | 788 |
| ICAM4 | ICAM2 | P13598 | 740 |
| ICAM4 | MAEA | Q7L5Y9 | 734 |
| ICAM4 | GYPB | P06028 | 723 |
| ICAM4 | ITGAL | P20701 | 721 |
| ICAM4 | VCAM1 | P19320 | 645 |
| ICAM4 | GYPA | P02724 | 638 |
| ICAM4 | BCAM | P50895 | 581 |
| ICAM4 | ITGAV | P06756 | 550 |
| ICAM4 | ITGA2B | P08514 | 539 |
| ICAM4 | ITGA4 | P13612 | 533 |
| ICAM4 | CD47 | Q08722 | 503 |
| ICAM4 | ITGAX | P20702 | 488 |
| ICAM4 | SIGLEC1 | Q9BZZ2 | 481 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC4A1 | FLOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3 | ICAM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IGHG1 | PDPK1 | psi-mi:“MI:0914”(association) | 0.350 |
| AQP1 | FLOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA4 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MPPE1 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN4A | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNB4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC5A4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| HFE | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNE | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| NHLRC3 | OGG1 | psi-mi:“MI:0914”(association) | 0.350 |
| ICAM4 | ATE1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH16 | EGFR | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106B | ICAM4 | psi-mi:“MI:0914”(association) | 0.350 |
| ICAM4 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (42): KRT31 (Two-hybrid), NOTCH2NL (Two-hybrid), ICAM4 (Two-hybrid), ICAM4 (Affinity Capture-MS), ICAM4 (Two-hybrid), KRT34 (Two-hybrid), MTUS2 (Two-hybrid), CYSRT1 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (Two-hybrid), DPP8 (Affinity Capture-MS), ICAM4 (Affinity Capture-MS), ICAM4 (Affinity Capture-MS), ICAM4 (Affinity Capture-MS), TOP3A (Affinity Capture-MS)
ESM2 similar proteins: A0A140LHF2, A0EQL2, D3YZF7, D7PDD4, O15533, O55237, O70394, O70540, O95866, P04278, P05111, P07994, P08689, P0C6B3, P0DP72, P15196, P17490, P18627, P40238, P55101, P60882, P97497, Q00657, Q08351, Q14393, Q14773, Q16671, Q3SWY4, Q5BK54, Q5NKT8, Q5TJE4, Q61790, Q61826, Q62588, Q6PZD2, Q6UVK1, Q6UWB1, Q7Z7M0, Q7Z7M1, Q86VR7
Diamond homologs: P05362, P13597, P13598, P32942, P33729, P35330, Q00238, Q14773, Q28125, Q28730, Q28806, Q5NKT8, Q5NKU6, Q5NKV1, Q5NKV2, Q5NKV4, Q5NKV6, Q5NKV9, Q60625, Q95132, Q9UMF0, Q9ERM2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ICAM4 | “form complex” | “Ankyrin complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cell migration | 5 | 11.0× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
58 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
328 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:10287407:G:GG | donor_gain | 1.0000 |
| 19:10287369:A:T | donor_gain | 0.9900 |
| 19:10287393:G:GT | donor_gain | 0.9900 |
| 19:10287413:G:T | donor_gain | 0.9900 |
| 19:10287418:GGGC:G | donor_gain | 0.9900 |
| 19:10287800:T:TA | donor_gain | 0.9900 |
| 19:10287801:G:GA | donor_gain | 0.9900 |
| 19:10287834:GCTCG:G | donor_gain | 0.9900 |
| 19:10287368:G:GT | donor_gain | 0.9800 |
| 19:10287534:A:AG | acceptor_gain | 0.9800 |
| 19:10287535:G:GG | acceptor_gain | 0.9800 |
| 19:10287836:TCGGT:T | donor_loss | 0.9800 |
| 19:10287837:CGGTG:C | donor_loss | 0.9800 |
| 19:10287838:GGTGA:G | donor_loss | 0.9800 |
| 19:10287839:G:GG | donor_gain | 0.9800 |
| 19:10287839:G:T | donor_loss | 0.9800 |
| 19:10287840:T:G | donor_loss | 0.9800 |
| 19:10287412:G:GT | donor_gain | 0.9700 |
| 19:10287535:GAACC:G | acceptor_gain | 0.9700 |
| 19:10287533:TAGAA:T | acceptor_gain | 0.9600 |
| 19:10287419:G:T | donor_gain | 0.9500 |
| 19:10287534:AGAAC:A | acceptor_gain | 0.9400 |
| 19:10287841:G:GG | donor_loss | 0.9400 |
| 19:10287276:C:T | donor_gain | 0.9300 |
| 19:10287531:CTTA:C | acceptor_loss | 0.9200 |
| 19:10287532:TTA:T | acceptor_loss | 0.9200 |
| 19:10287533:TAG:T | acceptor_loss | 0.9200 |
| 19:10287534:AGA:A | acceptor_loss | 0.9200 |
| 19:10287528:T:A | acceptor_loss | 0.9100 |
| 19:10287984:A:AG | acceptor_gain | 0.9000 |
AlphaMissense
1722 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:10287300:G:C | W96C | 0.985 |
| 19:10287300:G:T | W96C | 0.985 |
| 19:10287333:G:C | W107C | 0.985 |
| 19:10287333:G:T | W107C | 0.985 |
| 19:10287598:T:A | C153S | 0.985 |
| 19:10287599:G:C | C153S | 0.985 |
| 19:10287616:T:C | F159L | 0.984 |
| 19:10287618:C:A | F159L | 0.984 |
| 19:10287618:C:G | F159L | 0.984 |
| 19:10287769:T:A | C210S | 0.980 |
| 19:10287770:G:C | C210S | 0.980 |
| 19:10287217:T:A | C69S | 0.977 |
| 19:10287218:G:C | C69S | 0.977 |
| 19:10287598:T:C | C153R | 0.972 |
| 19:10287349:T:A | C113S | 0.971 |
| 19:10287350:G:C | C113S | 0.971 |
| 19:10287771:C:G | C210W | 0.969 |
| 19:10287395:T:C | I128T | 0.968 |
| 19:10287770:G:A | C210Y | 0.968 |
| 19:10287154:T:C | F48L | 0.967 |
| 19:10287156:C:A | F48L | 0.967 |
| 19:10287156:C:G | F48L | 0.967 |
| 19:10287395:T:G | I128S | 0.963 |
| 19:10287617:T:G | F159C | 0.962 |
| 19:10287769:T:C | C210R | 0.960 |
| 19:10287351:C:G | C113W | 0.959 |
| 19:10287230:G:A | C73Y | 0.954 |
| 19:10287600:C:G | C153W | 0.954 |
| 19:10287229:T:A | C73S | 0.953 |
| 19:10287230:G:C | C73S | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1000675984 (19:10285576 G>A,C), RS1001130557 (19:10285254 C>T), RS1002288516 (19:10285542 T>C), RS1002582178 (19:10285907 C>T), RS1002689661 (19:10289004 G>T), RS1002757098 (19:10286874 T>C,G), RS1004185068 (19:10288469 A>C,T), RS1004301233 (19:10288265 T>A), RS1005716286 (19:10286881 C>A,T), RS1006799920 (19:10287128 T>G), RS1007262846 (19:10288821 G>A), RS1007326993 (19:10287392 G>A,T), RS1008880702 (19:10288522 C>T), RS1009280661 (19:10285588 G>A,T), RS1009447932 (19:10285405 G>A,C)
Disease associations
OMIM: gene MIM:614088 | 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 |
|---|---|---|
| GCST006585_673 | Blood protein levels | 2.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 4 |
| Valproic Acid | affects expression, increases expression, increases methylation | 4 |
| Cyclosporine | decreases expression, increases expression | 3 |
| Aflatoxin B1 | increases expression, affects expression | 3 |
| bisphenol A | increases expression, affects cotreatment, increases methylation | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Tetrachlorodibenzodioxin | decreases expression, affects expression | 2 |
| dicrotophos | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Aripiprazole | increases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Quercetin | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | affects expression | 1 |
| Theophylline | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.