JAML
gene geneOn this page
Also known as Gm638AMICA
Summary
JAML (junction adhesion molecule like, HGNC:19084) is a protein-coding gene on chromosome 11q23.3, encoding Junctional adhesion molecule-like (Q86YT9). Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells.
Enables integrin binding activity and protein homodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules and myeloid leukocyte migration. Located in bicellular tight junction; nucleoplasm; and plasma membrane.
Source: NCBI Gene 120425 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 15 total
- MANE Select transcript:
NM_001098526
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19084 |
| Approved symbol | JAML |
| Name | junction adhesion molecule like |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Gm638, AMICA |
| Ensembl gene | ENSG00000160593 |
| Ensembl biotype | protein_coding |
| OMIM | 609770 |
| Entrez | 120425 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 20 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay
ENST00000292067, ENST00000356289, ENST00000524477, ENST00000525565, ENST00000526595, ENST00000526620, ENST00000527877, ENST00000529164, ENST00000531530, ENST00000531536, ENST00000533261, ENST00000534294, ENST00000911163, ENST00000911164, ENST00000911165, ENST00000911166, ENST00000911167, ENST00000911168, ENST00000911169, ENST00000911170, ENST00000911171, ENST00000946619, ENST00000946620, ENST00000946621, ENST00000946622, ENST00000946623
RefSeq mRNA: 4 — MANE Select: NM_001098526
NM_001098526, NM_001286570, NM_001286571, NM_153206
CCDS: CCDS41723, CCDS66240, CCDS8391
Canonical transcript exons
ENST00000356289 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001557461 | 118193725 | 118194417 |
| ENSE00002201958 | 118224941 | 118225011 |
| ENSE00003467515 | 118197998 | 118198091 |
| ENSE00003491829 | 118196735 | 118196821 |
| ENSE00003495462 | 118205882 | 118205991 |
| ENSE00003503629 | 118214824 | 118214886 |
| ENSE00003507881 | 118212407 | 118212561 |
| ENSE00003560789 | 118210487 | 118210712 |
| ENSE00003644396 | 118200474 | 118200612 |
| ENSE00003676943 | 118203428 | 118203665 |
Expression profiles
Bgee: expression breadth ubiquitous, 215 present calls, max score 99.48.
FANTOM5 (CAGE): breadth broad, TPM avg 15.4591 / max 1332.8583, expressed in 382 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122583 | 11.2672 | 352 |
| 122584 | 2.5165 | 246 |
| 122585 | 1.4457 | 186 |
| 122577 | 0.1442 | 31 |
| 122582 | 0.0487 | 18 |
| 122576 | 0.0240 | 8 |
| 122575 | 0.0130 | 1 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 99.48 | gold quality |
| leukocyte | CL:0000738 | 99.47 | gold quality |
| granulocyte | CL:0000094 | 99.31 | gold quality |
| blood | UBERON:0000178 | 99.02 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.39 | gold quality |
| spleen | UBERON:0002106 | 95.97 | gold quality |
| right lung | UBERON:0002167 | 94.05 | gold quality |
| caecum | UBERON:0001153 | 93.98 | gold quality |
| lymph node | UBERON:0000029 | 93.69 | gold quality |
| gall bladder | UBERON:0002110 | 93.52 | gold quality |
| bone marrow | UBERON:0002371 | 92.74 | gold quality |
| rectum | UBERON:0001052 | 92.55 | gold quality |
| bone marrow cell | CL:0002092 | 91.52 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.10 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.61 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.40 | gold quality |
| bone element | UBERON:0001474 | 90.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.95 | gold quality |
| small intestine | UBERON:0002108 | 88.65 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.59 | gold quality |
| right coronary artery | UBERON:0001625 | 87.15 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.99 | gold quality |
| lung | UBERON:0002048 | 86.94 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.58 | silver quality |
| smooth muscle tissue | UBERON:0001135 | 86.57 | gold quality |
| duodenum | UBERON:0002114 | 86.03 | gold quality |
| upper arm skin | UBERON:0004263 | 85.24 | silver quality |
| colonic epithelium | UBERON:0000397 | 85.04 | gold quality |
| lower lobe of lung | UBERON:0008949 | 84.98 | silver quality |
| pylorus | UBERON:0001166 | 84.44 | gold quality |
Single-cell (SCXA)
Detected in 24 experiment(s), a significant marker in 21.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7381 | yes | 1538.10 |
| E-CURD-97 | yes | 1143.78 |
| E-CURD-88 | yes | 927.97 |
| E-MTAB-8142 | yes | 908.43 |
| E-HCAD-32 | yes | 714.98 |
| E-MTAB-9067 | yes | 592.34 |
| E-MTAB-6701 | yes | 467.20 |
| E-HCAD-1 | yes | 70.93 |
| E-HCAD-6 | yes | 41.87 |
| E-HCAD-10 | yes | 36.05 |
| E-CURD-46 | yes | 35.12 |
| E-MTAB-10553 | yes | 32.48 |
| E-HCAD-8 | yes | 29.46 |
| E-MTAB-6678 | yes | 25.31 |
| E-CURD-112 | yes | 25.16 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting JAML, 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-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-3152-3P | 99.10 | 66.35 | 678 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-4691-5P | 98.41 | 66.77 | 1343 |
| HSA-MIR-6792-3P | 98.41 | 66.86 | 1359 |
| HSA-MIR-653-3P | 98.31 | 67.71 | 1542 |
| HSA-MIR-6870-3P | 98.08 | 65.10 | 692 |
| HSA-MIR-3151-3P | 97.80 | 66.16 | 479 |
| HSA-MIR-4733-5P | 97.75 | 67.44 | 866 |
Literature-anchored findings (GeneRIF, showing 10)
- expressed on leukocytes with a possible role in leukocyte transmigration (PMID:12869515)
- Integrin activation is required for the dissociation of JAM-L-VLA-4 complexes and the accumulation of functional JAM-L dimers, which indicates that the leukocyte integrin VLA-4 controls JAM-L function in cis by controlling its dimerization state. (PMID:19064666)
- Findings suggest that specific JAM family members play an important role in the transendothelial migration (TEM) of in vitro-generated mouse and human dendritic cells (DCs) from the inoculation site to regional lymph nodes (LNs) in DC-based cancer immunotherapy. (PMID:30055289)
- Elevation of JAML Promotes Diabetic Kidney Disease by Modulating Podocyte Lipid Metabolism. (PMID:33186558)
- JAML promotes CD8 and gammadelta T cell antitumor immunity and is a novel target for cancer immunotherapy. (PMID:34427588)
- Junctional Adhesion Molecule-Like Protein (JAML) Is Correlated with Prognosis and Immune Infiltrates in Lung Adenocarcinoma. (PMID:35034089)
- Junctional adhesion molecule-like protein promotes tumor progression via the Wnt/beta-catenin signaling pathway in lung adenocarcinoma. (PMID:35672776)
- Junctional adhesion molecule-like protein as a novel target for kaempferol to ameliorate lung adenocarcinoma. (PMID:37069006)
- JAML promotes the antitumor role of tumor-resident CD8[+] T cells by facilitating their innate-like function in human lung cancer. (PMID:38570084)
- JAML inhibits colorectal carcinogenesis by modulating the tumor immune microenvironment. (PMID:38625487)
Cross-species orthologs
0 orthologs
Paralogs (6): MPZL2 (ENSG00000149573), SCN2B (ENSG00000149575), MPZ (ENSG00000158887), MPZL3 (ENSG00000160588), SCN4B (ENSG00000177098), MPZL1 (ENSG00000197965)
Protein
Protein identifiers
Junctional adhesion molecule-like — Q86YT9 (reviewed: Q86YT9)
Alternative names: Adhesion molecule interacting with CXADR antigen 1, Dendritic cell-specific protein CREA7-1
All UniProt accessions (6): Q86YT9, E9PJJ4, E9PKK2, E9PLF9, E9PNS8, E9PR26
UniProt curated annotations — full annotation on UniProt →
Function. Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair. It also controls the transmigration of leukocytes within epithelial and endothelial tissues through adhesive interactions with epithelial and endothelial CXADR.
Subunit / interactions. Homodimer; active form in leukocyte-endothelial cell adhesion. Interacts (homodimeric form) with CXADR. Interacts (via cytoplasmic domain) with the PI3 kinase; upon CXADR-binding. Interacts with ITGA4 and ITGB1; integrin alpha-4/beta-1 may regulate leukocyte to endothelial cells adhesion by controlling JAML homodimerization.
Subcellular location. Cell membrane. Cell junction.
Tissue specificity. Expression is restricted to the hematopoietic tissues with the exception of liver. Expressed in fetal liver, spleen and thymus. Preferentially expressed by mature leukocytes (at protein level).
Domain organisation. The Ig-like V-type domain 1 mediates interaction with CXADR. The Ig-like V-type domain 2 may also play a role in the interaction.
Induction. Up-regulated upon retinoic acid, Me2SO and PMA treatment in differentiating myeloid leukemia cells.
Similarity. Belongs to the immunoglobulin superfamily.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86YT9-1 | 1 | yes |
| Q86YT9-2 | 2 | |
| Q86YT9-3 | 3 | |
| Q86YT9-4 | 4 |
RefSeq proteins (4): NP_001091996, NP_001273499, NP_001273500, NP_694938 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000920 | Myelin_P0-rel | Family |
| 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 |
Pfam: PF07686
UniProt features (22 total): splice variant 4, sequence variant 3, glycosylation site 2, disulfide bond 2, topological domain 2, domain 2, signal peptide 1, chain 1, mutagenesis site 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86YT9-F1 | 73.60 | 0.41 |
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 (2): 42–116, 155–234
Glycosylation sites (2): 231, 76
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 54 | loss of the ability to homodimerize, loss of interaction with cxadr and loss of function in cell-cell adhesion. |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-109582 | Hemostasis |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 156 (showing top):
GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_TAXIS, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, WANG_LMO4_TARGETS_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_GRANULOCYTE_MIGRATION, RYTTCCTG_ETS2_B
GO Biological Process (8): heterophilic cell-cell adhesion (GO:0007157), neutrophil chemotaxis (GO:0030593), monocyte extravasation (GO:0035696), gamma-delta T cell activation (GO:0046629), positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054), neutrophil extravasation (GO:0072672), immune system process (GO:0002376), cell adhesion (GO:0007155)
GO Molecular Function (4): integrin binding (GO:0005178), protein homodimerization activity (GO:0042803), cell adhesion molecule binding (GO:0050839), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
| Hemostasis | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neutrophil migration | 2 |
| cellular extravasation | 2 |
| cellular anatomical structure | 2 |
| cell-cell adhesion | 1 |
| granulocyte chemotaxis | 1 |
| mononuclear cell migration | 1 |
| myeloid leukocyte migration | 1 |
| T cell activation | 1 |
| wound healing | 1 |
| positive regulation of epithelial cell proliferation | 1 |
| biological_process | 1 |
| cellular process | 1 |
| signaling receptor binding | 1 |
| protein-containing complex binding | 1 |
| cell adhesion molecule binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1096 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| JAML | CXADR | P78310 | 902 |
| JAML | PLXNB2 | O15031 | 815 |
| JAML | CD28 | P10747 | 716 |
| JAML | IGSF5 | Q9NSI5 | 671 |
| JAML | JAM2 | P57087 | 588 |
| JAML | JAM3 | Q9BX67 | 585 |
| JAML | F11R | Q9Y624 | 553 |
| JAML | ESAM | Q96AP7 | 477 |
| JAML | IL17A | Q16552 | 455 |
| JAML | SEMA4D | Q92854 | 446 |
| JAML | RCVRN | P35243 | 423 |
| JAML | REG3G | Q6UW15 | 423 |
| JAML | GAPT | Q8N292 | 423 |
| JAML | IGF1 | P01343 | 406 |
| JAML | CD79B | P40259 | 392 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JAML | CXADR | psi-mi:“MI:0915”(physical association) | 0.590 |
| CXADR | JAML | psi-mi:“MI:0915”(physical association) | 0.590 |
| CD320 | JAML | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| JAML | CD320 | psi-mi:“MI:0403”(colocalization) | 0.520 |
| BTN1A1 | JAML | psi-mi:“MI:0915”(physical association) | 0.400 |
| JAML | psi-mi:“MI:0915”(physical association) | 0.000 | |
| JAML | yscP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (3): MAL (Two-hybrid), AMICA1 (Affinity Capture-MS), AMICA1 (Reconstituted Complex)
ESM2 similar proteins: A6QQC6, A8MVW5, B0CLX4, O88775, O95976, P01730, P01731, P01881, P01882, P05540, P06332, P06729, P08920, P08921, P10252, P16003, P16004, P18181, P20746, P21995, P37998, P42071, P42082, P43432, P79184, P79185, Q07763, Q08338, Q08340, Q28938, Q29037, Q29RR6, Q3MHP9, Q3T113, Q4KLY3, Q4VAH7, Q6GMZ9, Q6PCB8, Q6SZ61, Q6UXZ0
Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, P78310, P97792, Q08E08, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q56A07, Q5EAB0, Q5R764, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q864L3, Q86YT9, Q8AVM3, Q8IWT1, Q8WMV3, Q91664, Q96IQ7, Q9PWR4, Q9R066, Q7M730, Q2KI11, Q7M729
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1960 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:118197970:A:AC | donor_gain | 1.0000 |
| 11:118197971:G:C | donor_gain | 1.0000 |
| 11:118198001:C:A | donor_gain | 1.0000 |
| 11:118203408:C:A | donor_gain | 1.0000 |
| 11:118203426:A:AC | donor_gain | 1.0000 |
| 11:118203427:C:CC | donor_gain | 1.0000 |
| 11:118203429:T:TA | donor_gain | 1.0000 |
| 11:118203439:T:TA | donor_gain | 1.0000 |
| 11:118203524:C:CA | donor_gain | 1.0000 |
| 11:118203529:ACT:A | donor_gain | 1.0000 |
| 11:118203530:CTC:C | donor_gain | 1.0000 |
| 11:118203532:C:CA | donor_gain | 1.0000 |
| 11:118195057:G:C | donor_gain | 0.9900 |
| 11:118195263:G:C | donor_gain | 0.9900 |
| 11:118196822:C:CC | acceptor_gain | 0.9900 |
| 11:118197999:T:TA | donor_gain | 0.9900 |
| 11:118198000:C:A | donor_gain | 0.9900 |
| 11:118203495:A:AC | donor_gain | 0.9900 |
| 11:118203496:C:CC | donor_gain | 0.9900 |
| 11:118210482:CGTA:C | donor_loss | 0.9900 |
| 11:118210483:GTA:G | donor_loss | 0.9900 |
| 11:118210484:TA:T | donor_loss | 0.9900 |
| 11:118210485:A:C | donor_loss | 0.9900 |
| 11:118210517:C:CT | donor_gain | 0.9900 |
| 11:118210529:TGAAC:T | donor_gain | 0.9900 |
| 11:118212401:CGTTA:C | donor_loss | 0.9900 |
| 11:118212402:GTTA:G | donor_loss | 0.9900 |
| 11:118212403:TTAC:T | donor_loss | 0.9900 |
| 11:118212404:TACCT:T | donor_loss | 0.9900 |
| 11:118212405:A:C | donor_loss | 0.9900 |
AlphaMissense
2574 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:118212436:A:G | W57R | 0.991 |
| 11:118212436:A:T | W57R | 0.991 |
| 11:118212434:C:A | W57C | 0.988 |
| 11:118212434:C:G | W57C | 0.988 |
| 11:118210571:A:C | Y114D | 0.987 |
| 11:118205908:A:G | W170R | 0.986 |
| 11:118205908:A:T | W170R | 0.986 |
| 11:118210659:G:C | F84L | 0.985 |
| 11:118210659:G:T | F84L | 0.985 |
| 11:118210661:A:G | F84L | 0.985 |
| 11:118210651:C:G | R87P | 0.984 |
| 11:118210564:C:T | C116Y | 0.978 |
| 11:118210564:C:G | C116S | 0.976 |
| 11:118210565:A:G | C116R | 0.976 |
| 11:118210565:A:T | C116S | 0.976 |
| 11:118205906:C:A | W170C | 0.975 |
| 11:118205906:C:G | W170C | 0.975 |
| 11:118203506:A:C | Y232D | 0.973 |
| 11:118210563:A:C | C116W | 0.973 |
| 11:118212435:C:G | W57S | 0.971 |
| 11:118210613:A:G | S100P | 0.968 |
| 11:118210609:A:G | L101P | 0.967 |
| 11:118200538:A:G | C283R | 0.966 |
| 11:118203499:C:G | C234S | 0.966 |
| 11:118203500:A:T | C234S | 0.966 |
| 11:118210652:G:T | R87S | 0.966 |
| 11:118210603:A:G | L103P | 0.963 |
| 11:118210699:A:G | L71P | 0.963 |
| 11:118210609:A:T | L101H | 0.962 |
| 11:118203500:A:G | C234R | 0.958 |
dbSNP variants (sampled 300 via entrez): RS1000033150 (11:118213787 C>T), RS1000104794 (11:118214136 C>T), RS1000145497 (11:118221245 T>C), RS1000352345 (11:118217503 C>T), RS1000390697 (11:118220607 C>T), RS1000404581 (11:118217207 A>G), RS1000598554 (11:118210928 A>G), RS1000616177 (11:118204040 CA>C,CAA), RS1000654480 (11:118197199 T>C), RS1000668434 (11:118203685 A>C,G), RS1000819846 (11:118224289 G>A), RS1000855349 (11:118206276 T>C), RS1000906521 (11:118193743 T>C), RS1000965041 (11:118206998 C>T), RS1001005304 (11:118197406 AAGAAT>A)
Disease associations
OMIM: gene MIM:609770 | 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 |
|---|---|---|
| GCST004610_123 | White blood cell count | 8.000000e-18 |
| GCST004613_20 | Sum neutrophil eosinophil counts | 1.000000e-14 |
| GCST004614_4 | Granulocyte count | 9.000000e-15 |
| GCST004620_118 | Sum basophil neutrophil counts | 4.000000e-14 |
| GCST004625_113 | Monocyte count | 4.000000e-09 |
| GCST004626_113 | Myeloid white cell count | 6.000000e-16 |
| GCST004629_99 | Neutrophil count | 6.000000e-14 |
| GCST006585_417 | Blood protein levels | 0.000000e+00 |
| GCST007560_2 | Sleep duration (long sleep) | 5.000000e-12 |
| GCST90002393_444 | Monocyte count | 5.000000e-13 |
| GCST90002398_130 | Neutrophil count | 6.000000e-16 |
| GCST90002398_203 | Neutrophil count | 8.000000e-10 |
| GCST90002398_204 | Neutrophil count | 2.000000e-32 |
| GCST90002399_69 | Neutrophil percentage of white cells | 3.000000e-10 |
| GCST90002407_339 | White blood cell count | 4.000000e-35 |
| GCST90002407_340 | White blood cell count | 5.000000e-13 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Nickel | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| quercitrin | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| gardiquimod | decreases expression, decreases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Protein Kinase Inhibitors | decreases expression, decreases reaction | 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.