ICAM2
gene geneOn this page
Also known as CD102
Summary
ICAM2 (intercellular adhesion molecule 2, HGNC:5345) is a protein-coding gene on chromosome 17q23.3, encoding Intercellular adhesion molecule 2 (P13598). Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring leukocyte cell-cell adhesion on resting cells.
The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 3384 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 51 total
- MANE Select transcript:
NM_001099789
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5345 |
| Approved symbol | ICAM2 |
| Name | intercellular adhesion molecule 2 |
| Location | 17q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD102 |
| Ensembl gene | ENSG00000108622 |
| Ensembl biotype | protein_coding |
| OMIM | 146630 |
| Entrez | 3384 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 18 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000412356, ENST00000418105, ENST00000449662, ENST00000578313, ENST00000578379, ENST00000578892, ENST00000579687, ENST00000579788, ENST00000580011, ENST00000580389, ENST00000581417, ENST00000583186, ENST00000583366, ENST00000583684, ENST00000584084, ENST00000584403, ENST00000852957, ENST00000852958, ENST00000965113, ENST00000965114, ENST00000965115, ENST00000965116, ENST00000965117, ENST00000965118
RefSeq mRNA: 5 — MANE Select: NM_001099789
NM_000873, NM_001099786, NM_001099787, NM_001099788, NM_001099789
CCDS: CCDS11657
Canonical transcript exons
ENST00000579788 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002705765 | 64002595 | 64002925 |
| ENSE00002716284 | 64020523 | 64020633 |
| ENSE00003513662 | 64005107 | 64005373 |
| ENSE00003562599 | 64006631 | 64006735 |
| ENSE00003791597 | 64003644 | 64003964 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 98.32.
FANTOM5 (CAGE): breadth broad, TPM avg 24.1617 / max 475.8851, expressed in 813 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 167546 | 13.0791 | 706 |
| 167540 | 8.8452 | 396 |
| 167542 | 0.7963 | 184 |
| 167545 | 0.3841 | 128 |
| 167539 | 0.2982 | 99 |
| 167543 | 0.2944 | 92 |
| 167541 | 0.2858 | 128 |
| 167544 | 0.1786 | 94 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| spleen | UBERON:0002106 | 98.32 | gold quality |
| granulocyte | CL:0000094 | 97.80 | gold quality |
| vena cava | UBERON:0004087 | 97.35 | gold quality |
| pericardium | UBERON:0002407 | 97.18 | gold quality |
| apex of heart | UBERON:0002098 | 97.10 | gold quality |
| right lung | UBERON:0002167 | 97.03 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.54 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.45 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.43 | gold quality |
| omental fat pad | UBERON:0010414 | 96.42 | gold quality |
| peritoneum | UBERON:0002358 | 96.39 | gold quality |
| leukocyte | CL:0000738 | 95.71 | gold quality |
| blood | UBERON:0000178 | 95.62 | gold quality |
| mononuclear cell | CL:0000842 | 95.57 | gold quality |
| monocyte | CL:0000576 | 95.56 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 95.55 | gold quality |
| adipose tissue | UBERON:0001013 | 95.50 | gold quality |
| lymph node | UBERON:0000029 | 95.29 | gold quality |
| lung | UBERON:0002048 | 95.10 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.05 | gold quality |
| connective tissue | UBERON:0002384 | 94.98 | gold quality |
| adult organism | UBERON:0007023 | 94.86 | gold quality |
| superficial temporal artery | UBERON:0001614 | 94.74 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.53 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.52 | gold quality |
| placenta | UBERON:0001987 | 93.43 | gold quality |
| periodontal ligament | UBERON:0008266 | 93.39 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.92 | gold quality |
| visceral pleura | UBERON:0002401 | 92.62 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 753.12 |
| E-MTAB-10287 | yes | 64.05 |
| E-GEOD-135922 | yes | 48.51 |
| E-HCAD-11 | yes | 47.89 |
| E-HCAD-10 | yes | 44.20 |
| E-HCAD-1 | yes | 39.60 |
| E-MTAB-8410 | yes | 35.38 |
| E-CURD-112 | yes | 34.09 |
| E-MTAB-6701 | yes | 33.88 |
| E-CURD-46 | yes | 26.25 |
| E-MTAB-9388 | yes | 14.10 |
| E-MTAB-6678 | yes | 12.32 |
| E-MTAB-10137 | yes | 5.94 |
| E-MTAB-6379 | no | 383.55 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ERG
miRNA regulators (miRDB)
6 targeting ICAM2, 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-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3157-5P | 97.41 | 67.61 | 998 |
| HSA-MIR-214-5P | 97.34 | 66.50 | 617 |
| HSA-MIR-3944-3P | 91.01 | 62.27 | 44 |
| HSA-MIR-3181 | 88.42 | 63.57 | 25 |
| HSA-MIR-4750-5P | 80.79 | 59.79 | 18 |
Literature-anchored findings (GeneRIF, showing 28)
- Although ICAM-2 colocalizes with moesin and F-actin in microvilli of unstimulated endothelial cells, it is not involved in RhoA activation or cause stress fiber formation upon cross-linking. (PMID:12097408)
- soluble DC-SIGN bound to gp120-Fc more than 100- and 50-fold better than ICAM-2-Fc and ICAM-3-Fc, respectively. Binding sites are described. (PMID:14970226)
- N-Linked glycosylation regulate both conformation and immune related functions of ICAM receptors (PMID:15545280)
- The role of ICAM-2 has its recognition as potential therapeutic targets in human diseases. (PMID:15548573)
- mutation of the serine phosphorylation site leads to inability of Mac-1 to become activated to bind the cellular ligands ICAM-1 and ICAM-2. (PMID:16857989)
- persistently elevated, serum levels of ICAM-2 throughout the various phases and types of Hemorrhagic fever with renal syndrome (HFRS) may be associated with the hyperfunctioning of the cellular immune response. (PMID:16987074)
- pig and human ICAM-2 promoters exhibit many similarities (PMID:17059578)
- diminished ability of NK cells to kill HTLV-1-infected cells was the decreased ability of NK cells to adhere to HTLV-1-infected cells because of HTLV-1 p12(I)-mediated down-modulation of intercellular adhesion molecule 1 (ICAM-1) and ICAM-2. (PMID:17609265)
- The binding partner of DC-SIGN on endothelial cells is the glycan epitope Lewis(Y) (Le(Y)), expressed on ICAM-2. (PMID:18155766)
- Receptor tyrosine kinase EphA2 mediates thrombin-induced upregulation of ICAM-1 in endothelial cells in vitro. (PMID:18768213)
- ICAM-2 is expressed on the bronchial epithelium and, together with ICAM-1, has an essential function in the clearance of T cells from the lung (PMID:18842965)
- ICAM-2 mediates suppression of metastatic phenotype and the interaction of ICAM-2/alpha-actinin/actin represents the first complete membrane-linker protein-actin linkage to impact tumor cell motility in vitro and metastatic potential in an in vivo model. (PMID:18978946)
- Expression of ICAM-1 or ICAM-2 on human pancreatic cancer cells is critically important in determining the extent to which these cells are sensitive to killing by human gammadelta-T cells. (PMID:19175829)
- Data show that The cell surface expression levels of (ICAM)-2 and -3 on the apoptotic cells were markedly lower, while those of calnexin, calreticulin, and (LAMP)-1 and -2 were significantly higher compared to non-apoptotic cells. (PMID:19524015)
- Immune surveillance occurs during the early intraepithelial stages of human pancreatic carcinogenesis and is mediated by expression of CXCL17 and ICAM2. (PMID:20955708)
- These findings suggested that the downregulated miR-125b expression was associated with proliferation and radioresistance mechanisms, probably through ICAM2 signalling. (PMID:23591197)
- Reduced glycosylation of ICAM-2 significantly attenuated, but did not abolish, its ability to suppress metastatic properties of neuroblastoma cells. (PMID:23714211)
- ICAM-2 was significantly more pronounced in plasma cell mastitis than in nonpathologic breast tissue. However, no significant differences in ICAM-2 immunoreactivity were detected between ductal epithelium of PCM and non-PCM. (PMID:24457076)
- with larger patient groups and preferably detailed histopathological and clinical evaluations, are needed to explain the severity of ICAM-1, ICAM-2, and ICAM-3 molecules in Barrett’s esophagus (PMID:24474251)
- Results indicate that the interaction of ICAM-2 with alpha-actinin is critical to conferring an ICAM-2-mediated non-metastatic phenotype in neuroblastoma cells. (PMID:24704826)
- ICAM-1 and ICAM-2 are involved in each step of neutrophil extravasation, and have redundant but also distinct functions. Analysis of the role of endothelial ICAM-1 requires simultaneous consideration of ICAM-2. (PMID:25427141)
- Soluble ICAM2 was higher in ADHD patients than in controls. (PMID:26377944)
- Both ICAM-2 and ICAM-1 levels in plasma were markedly increased in Ankylosing Spondylitis Chinese patients compared to controls. (PMID:26641849)
- ICAM2 induction by p53 has a key role in inhibiting cancer cell migration and invasion.ICAM2 acts at least in part through the suppression of the MEK-ERK signaling pathway. (PMID:27556181)
- INDEED also identified some candidates previously reported to be relevant to HCC, such as intercellular adhesion molecule 2 (ICAM2) and c4b-binding protein alpha chain (C4BPA), which were missed by both Differential expression and differential network analyses (PMID:27592383)
- Lewis-antigen-containing ICAM-2/3 on Jurkat leukemia cells interact with DC-SIGN to regulate DC functions. (PMID:29671117)
- ICAM-1 and ICAM-2 Are Differentially Expressed and Up-Regulated on Inflamed Pulmonary Epithelium, but Neither ICAM-2 nor LFA-1: ICAM-1 Are Required for Neutrophil Migration Into the Airways In Vivo. (PMID:34484188)
- Intercellular adhesion molecule 2 as a novel prospective tumor suppressor induced by ERG promotes ubiquitination-mediated radixin degradation to inhibit gastric cancer tumorigenicity and metastasis. (PMID:37759298)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Icam2 | ENSMUSG00000001029 |
| rattus_norvegicus | Icam2 | ENSRNOG00000025143 |
Paralogs (4): ICAM3 (ENSG00000076662), ICAM1 (ENSG00000090339), ICAM4 (ENSG00000105371), ICAM5 (ENSG00000105376)
Protein
Protein identifiers
Intercellular adhesion molecule 2 — P13598 (reviewed: P13598)
All UniProt accessions (8): P13598, J3KSR9, J3QKR4, J3QQR8, J3QQX6, J3QRQ1, J3QRT5, Q6FHE2
UniProt curated annotations — full annotation on UniProt →
Function. Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring leukocyte cell-cell adhesion on resting cells. Also endothelial blood vessels receptor ligand of dendritic cell (DC) CD209 signaling receptor that mediates triggering transendothelial migration of DC presursors from blood into peripheral tissues and, subsequently, into lymphoid tissues. Mediates adhesive interactions important for antigen presentation, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance.
Subunit / interactions. Interacts with RDX, EZR and MSN.
Subcellular location. Cell membrane. Cell projection. Microvillus.
Tissue specificity. Constitutively expressed on leukocytes and endothelium. Expressed on resting lymphocytes and monocytes, but not in neutrophils. Abundantly expressed on endothelial vascular cells as well as lymphatic vessels in tonsils.
Induction. No induction by inflammatory mediators.
Similarity. Belongs to the immunoglobulin superfamily. ICAM family.
RefSeq proteins (5): NP_000864, NP_001093256, NP_001093257, NP_001093258, NP_001093259* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003987 | ICAM_VCAM_N | Domain |
| IPR003988 | ICAM | 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 (39 total): strand 15, glycosylation site 6, disulfide bond 3, sequence variant 3, helix 3, topological domain 2, domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1ZXQ | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P13598-F1 | 87.28 | 0.72 |
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): 48–91, 52–95, 134–190
Glycosylation sites (6): 105, 153, 176, 187, 47, 82
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-216083 | Integrin cell surface interactions |
| R-HSA-5621575 | CD209 (DC-SIGN) signaling |
MSigDB gene sets: 271 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_DENDRITIC_CELL_MIGRATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_CELL_CELL_ADHESION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_LEUKOCYTE_MIGRATION, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, ROZANOV_MMP14_TARGETS_UP, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, SCHLOSSER_SERUM_RESPONSE_DN, DOUGLAS_BMI1_TARGETS_DN
GO Biological Process (5): cell adhesion (GO:0007155), leukocyte cell-cell adhesion (GO:0007159), cell adhesion mediated by integrin (GO:0033627), dendritic cell migration (GO:0036336), cell-cell adhesion (GO:0098609)
GO Molecular Function (2): integrin binding (GO:0005178), receptor ligand activity (GO:0048018)
GO Cellular Component (7): uropod (GO:0001931), plasma membrane (GO:0005886), microvillus (GO:0005902), membrane (GO:0016020), cleavage furrow (GO:0032154), cell projection (GO:0042995), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Extracellular matrix organization | 1 |
| C-type lectin receptors (CLRs) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cell adhesion | 2 |
| signaling receptor binding | 2 |
| cellular process | 1 |
| cell-cell adhesion | 1 |
| mononuclear cell migration | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| signal transduction | 1 |
| signaling receptor activator activity | 1 |
| cell trailing edge | 1 |
| plasma membrane bounded cell projection | 1 |
| membrane | 1 |
| cell periphery | 1 |
| actin filament bundle | 1 |
| actin-based cell projection | 1 |
| cell division site | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
1554 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ICAM2 | ITGB2 | P05107 | 995 |
| ICAM2 | ITGAL | P20701 | 994 |
| ICAM2 | CD209 | Q9NNX6 | 991 |
| ICAM2 | RDX | P35241 | 985 |
| ICAM2 | ITGAM | P11215 | 968 |
| ICAM2 | EZR | P15311 | 963 |
| ICAM2 | ICAM1 | P05362 | 917 |
| ICAM2 | VCAM1 | P19320 | 879 |
| ICAM2 | F11R | Q9Y624 | 875 |
| ICAM2 | MSN | P26038 | 850 |
| ICAM2 | CD44 | P16070 | 842 |
| ICAM2 | PECAM1 | P16284 | 802 |
| ICAM2 | SELPLG | Q14242 | 760 |
| ICAM2 | SELE | P16111 | 755 |
| ICAM2 | ICAM4 | Q14773 | 740 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| vpu | SCAMP3 | psi-mi:“MI:0914”(association) | 0.460 |
| ICAM2 | F2RL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ICAM2 | ATP13A2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ICAM2 | NRP1 | psi-mi:“MI:0914”(association) | 0.350 |
| NPC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ICAM2 | RTN2 | psi-mi:“MI:0914”(association) | 0.350 |
| RSU1 | ICAM2 | psi-mi:“MI:0914”(association) | 0.350 |
| ICAM2 | RAB29 | psi-mi:“MI:0914”(association) | 0.350 |
| ICAM2 | asd | psi-mi:“MI:0915”(physical association) | 0.000 |
| ICAM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (73): YIF1B (Affinity Capture-MS), LRFN1 (Affinity Capture-MS), C1QL1 (Affinity Capture-MS), RTN2 (Affinity Capture-MS), HBD (Affinity Capture-MS), LGALS1 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), MAD2L2 (Affinity Capture-MS), NRP1 (Affinity Capture-MS), DAGLB (Affinity Capture-MS), BSCL2 (Affinity Capture-MS), RAB18 (Affinity Capture-MS), TNFSF9 (Affinity Capture-MS), ARL6IP5 (Affinity Capture-MS), C1QL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0B4J1G0, A0A0G2KBC9, A3RFZ7, B6A8R8, E2RP87, G1T7E7, G1TR84, H0VDZ8, M3XWH1, O75015, P08101, P08508, P08637, P0DTI4, P12314, P12318, P12319, P12371, P13597, P13598, P20489, P26151, P27645, P31995, P35330, P50283, P51866, P79107, P82957, Q00238, Q08481, Q09TM2, Q09TM4, Q14952, Q28942, Q3B8P2, Q3SWT0, Q5NKV1, Q5NKV2, Q60513
Diamond homologs: P05362, P13597, P13598, P32942, P33729, P35330, Q00238, Q14773, Q28125, Q28730, Q28806, Q5NKT8, Q5NKU6, Q5NKV1, Q5NKV2, Q5NKV4, Q5NKV6, Q5NKV9, Q60625, Q95132, Q9UMF0, A2ASS6, P13688, Q00888, Q00889, Q13046, Q1WIM1, Q4VA61, Q86VR7, Q8NFZ8, Q8R464, Q8TD84, Q9ERM2, D3ZB51, O00533, O15146, Q26474, Q61006, Q62838, Q8BQC3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ERG | “up-regulates quantity by expression” | ICAM2 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
549 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:64002926:C:CC | acceptor_gain | 1.0000 |
| 17:64003961:GGCT:G | acceptor_gain | 1.0000 |
| 17:64003962:GCT:G | acceptor_gain | 1.0000 |
| 17:64003963:CT:C | acceptor_gain | 1.0000 |
| 17:64003963:CTC:C | acceptor_gain | 1.0000 |
| 17:64003964:TCT:T | acceptor_gain | 1.0000 |
| 17:64003964:TCTGC:T | acceptor_loss | 1.0000 |
| 17:64003965:C:CC | acceptor_gain | 1.0000 |
| 17:64003965:CTGC:C | acceptor_loss | 1.0000 |
| 17:64005105:A:AC | donor_gain | 1.0000 |
| 17:64005106:C:CC | donor_gain | 1.0000 |
| 17:64006626:CTTA:C | donor_loss | 1.0000 |
| 17:64006627:TTA:T | donor_loss | 1.0000 |
| 17:64006628:TAC:T | donor_loss | 1.0000 |
| 17:64006629:A:T | donor_loss | 1.0000 |
| 17:64002924:CT:C | acceptor_gain | 0.9900 |
| 17:64003691:C:CT | donor_gain | 0.9900 |
| 17:64003692:C:CT | donor_gain | 0.9900 |
| 17:64003960:AGGCT:A | acceptor_gain | 0.9900 |
| 17:64003965:C:A | acceptor_gain | 0.9900 |
| 17:64005106:CGGTA:C | donor_gain | 0.9900 |
| 17:64005111:CACG:C | donor_gain | 0.9900 |
| 17:64005216:AG:A | donor_gain | 0.9900 |
| 17:64005241:T:C | donor_gain | 0.9900 |
| 17:64005374:C:CC | acceptor_gain | 0.9900 |
| 17:64006629:A:AC | donor_gain | 0.9900 |
| 17:64006630:C:CC | donor_gain | 0.9900 |
| 17:64002922:GGCT:G | acceptor_gain | 0.9800 |
| 17:64002925:TC:T | acceptor_loss | 0.9800 |
| 17:64002926:CT:C | acceptor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000017587 (17:64005960 G>A,T), RS1000026800 (17:64009969 C>T), RS1000095743 (17:64016465 G>T), RS1000238122 (17:64018563 G>A,T), RS1000368761 (17:64022104 C>G,T), RS1000700904 (17:64020678 G>A,C), RS1000904637 (17:64004537 A>G), RS1000949632 (17:64004251 C>T), RS1001348360 (17:64009076 C>A,T), RS1001589412 (17:64020999 A>T), RS1001750526 (17:64008522 G>T), RS1001926629 (17:64019673 G>A), RS1002022525 (17:64003310 GT>G), RS1002153626 (17:64014749 G>A), RS1002376548 (17:64019367 G>T)
Disease associations
OMIM: gene MIM:146630 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression, decreases expression | 3 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| sulindac sulfide | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| vanadyl sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression, decreases reaction, increases expression | 1 |
| GSK1210151A | decreases reaction, increases expression, decreases expression | 1 |
| 2-methoxy-N-(3-methyl-2-oxo-1,2,3,4-tetrahydroquinazolin-6-yl)benzenesulfonamide | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Decitabine | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation, decreases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Colforsin | decreases reaction, 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.