CEACAM8
gene geneOn this page
Also known as CD66b
Summary
CEACAM8 (CEA cell adhesion molecule 8, HGNC:1820) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM8 (P31997). Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner.
Enables protein heterodimerization activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Located in cell surface and extracellular space. Biomarker of severe acute respiratory syndrome.
Source: NCBI Gene 1088 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_001816
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1820 |
| Approved symbol | CEACAM8 |
| Name | CEA cell adhesion molecule 8 |
| Location | 19q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD66b |
| Ensembl gene | ENSG00000124469 |
| Ensembl biotype | protein_coding |
| OMIM | 615747 |
| Entrez | 1088 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000244336, ENST00000599005, ENST00000899996, ENST00000899997
RefSeq mRNA: 1 — MANE Select: NM_001816
NM_001816
CCDS: CCDS12610
Canonical transcript exons
ENST00000244336 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001415045 | 42583206 | 42583337 |
| ENSE00001510272 | 42580243 | 42581353 |
| ENSE00002430527 | 42588784 | 42589038 |
| ENSE00002503260 | 42589457 | 42589735 |
| ENSE00002516431 | 42594765 | 42594924 |
| ENSE00002530103 | 42593541 | 42593900 |
Expression profiles
Bgee: expression breadth ubiquitous, 116 present calls, max score 99.49.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5140 / max 278.8940, expressed in 43 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181202 | 0.2898 | 25 |
| 181203 | 0.2210 | 31 |
| 181204 | 0.0032 | 1 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trabecular bone tissue | UBERON:0002483 | 99.49 | gold quality |
| bone marrow | UBERON:0002371 | 98.47 | gold quality |
| bone marrow cell | CL:0002092 | 97.66 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.86 | gold quality |
| mononuclear cell | CL:0000842 | 77.68 | gold quality |
| monocyte | CL:0000576 | 77.51 | gold quality |
| leukocyte | CL:0000738 | 76.84 | gold quality |
| blood | UBERON:0000178 | 75.27 | gold quality |
| granulocyte | CL:0000094 | 65.44 | gold quality |
| spleen | UBERON:0002106 | 64.45 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 61.18 | gold quality |
| right lung | UBERON:0002167 | 61.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 55.06 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 50.95 | gold quality |
| upper lobe of lung | UBERON:0008948 | 50.61 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| lung | UBERON:0002048 | 50.33 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| sural nerve | UBERON:0015488 | 50.24 | silver quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| thymus | UBERON:0002370 | 49.99 | silver quality |
| quadriceps femoris | UBERON:0001377 | 49.90 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.45 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.25 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 3189.16 |
| E-ANND-3 | yes | 12.17 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
71 targeting CEACAM8, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| 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 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 13)
- All the leukemic samples showed overexpression of CEACAM6 and 8 when compared with normal granulocytes. (PMID:17909799)
- CD66b molecules are involved in regulating adhesion and activation of eosinophils, possibly through their localization in lipid rafts and interaction with other cell surface molecules, such as CD11b. (PMID:18056392)
- Data show that desensitization of neutrophils to any two CEACAMs, 1, 3, 6, or 8, results in selective desensitization to those two CEACAMs, while the cells remain responsive to the other two neutrophil CEACAMs. (PMID:19077207)
- The highly elevated gene expression of CEACAM6 and CEACAM8 in primary myelofibrosis can serve as molecular markers of myelofibrotic transformation. (PMID:21470677)
- Granulocytes from type 2 diabetes patients display higher granulocyte cell surface expression of CD66b compared with values of healthy controls. (PMID:23686079)
- CEACAM8 interacts with CEACAM1 inhibiting TLR2-triggered immune responses (PMID:24743304)
- Inhibition of C5aR1 leads to a significant reduction of CD66b and CD11b expression indicating a lower neutrophil activation status and block of granule exocytosis. (PMID:26176669)
- Data suggest ways in which carcinoembryonic antigen-related cell adhesion molecules CEACAM6 and CEACAM8 regulate the biological functions of one another. (PMID:26483485)
- a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8 (PMID:27579896)
- Increased CD66b positive tumor-infiltrating neutrophils (CD66b + TINs) was significantly associated with presence of metastasis, S stage, and nonseminomatous germ cell tumor diagnosis. (PMID:27863478)
- High CEACAM8 expression is associated with metastases in breast carcinoma. (PMID:31222613)
- CD66b(+) monocytes represent a proinflammatory myeloid subpopulation in cancer. (PMID:32632664)
- Clinical Significance of CD66b Expression in Non-Small Cell Lung Cancer. (PMID:37162631)
Cross-species orthologs
0 orthologs
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)
Protein
Protein identifiers
Cell adhesion molecule CEACAM8 — P31997 (reviewed: P31997)
Alternative names: CD67 antigen, Carcinoembryonic antigen CGM6, Carcinoembryonic antigen-related cell adhesion molecule 8, Non-specific cross-reacting antigen NCA-95
All UniProt accessions (3): P31997, M0R1X3, Q0Z7S6
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner. Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6. Heterophilic interaction with CEACAM8 occurs in activated neutrophils.
Subunit / interactions. Monomer. Heterodimer with CEACAM6; heterodimerizes via its Ig-like V-type domain.
Subcellular location. Cell membrane. Cell surface.
Tissue specificity. Expressed in leukocytes of chronic myeloid Leukemia patients and bone marrow.
Post-translational modifications. Glycosylated.
Domain organisation. The N-terminus Ig-like V-type domain is necessary for heterophilic intercellular adhesion.
Similarity. Belongs to the immunoglobulin superfamily. CEA family.
RefSeq proteins (1): NP_001807* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | 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 |
| IPR050831 | CEA_cell_adhesion | Family |
Pfam: PF07686, PF13895, PF13927
UniProt features (48 total): glycosylation site 11, mutagenesis site 10, strand 9, sequence variant 5, domain 3, disulfide bond 2, helix 2, turn 2, signal peptide 1, chain 1, propeptide 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4Y88 | X-RAY DIFFRACTION | 1.45 |
| 4YIQ | X-RAY DIFFRACTION | 1.85 |
| 4WTZ | X-RAY DIFFRACTION | 2.52 |
| 2DKS | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P31997-F1 | 87.26 | 0.79 |
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 (1): 320
Disulfide bonds (2): 167–215, 259–299
Glycosylation sites (11): 152, 173, 197, 224, 256, 274, 288, 309, 104, 111, 115
Mutagenesis-validated functional residues (10):
| Position | Phenotype |
|---|---|
| 40–45 | no effect on heterophilic cell adhesion. |
| 61–63 | no effect on heterophilic cell adhesion. |
| 66 | inhibits heterophilic cell adhesion. |
| 72–75 | no effect on heterophilic cell adhesion. |
| 78 | does not affect the monomeric structure. loss of heterodimerization with ceacam6. |
| 78 | inhibits heterophilic cell adhesion. |
| 85–89 | no effect on heterophilic cell adhesion. |
| 97 | no effect on heterophilic cell adhesion. |
| 123 | does not affect the monomeric structure. decreases heterodimerization with ceacam6. |
| 129 | does not affect the monomeric structure. loss of heterodimerization with ceacam6. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-1566977 | Fibronectin matrix formation |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-109582 | Hemostasis |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 81 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOCC_CELL_SURFACE, GOBP_CELL_CELL_ADHESION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, VALK_AML_CLUSTER_15, REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL, GOCC_SECRETORY_VESICLE, GOCC_SPECIFIC_GRANULE, GOCC_SECRETORY_GRANULE_MEMBRANE, GOCC_SIDE_OF_MEMBRANE, GOMF_PROTEIN_HETERODIMERIZATION_ACTIVITY
GO Biological Process (3): immune response (GO:0006955), heterophilic cell-cell adhesion (GO:0007157), cell adhesion (GO:0007155)
GO Molecular Function (2): protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (9): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), cell surface (GO:0009986), azurophil granule membrane (GO:0035577), specific granule membrane (GO:0035579), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
| Hemostasis | 1 |
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| secretory granule membrane | 3 |
| membrane | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell-cell adhesion | 1 |
| cellular process | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| cell periphery | 1 |
| lysosomal membrane | 1 |
| azurophil granule | 1 |
| specific granule | 1 |
| extracellular vesicle | 1 |
| tertiary granule | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
1766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEACAM8 | CD19 | P15391 | 898 |
| CEACAM8 | FCGR3B | O75015 | 862 |
| CEACAM8 | FCGR3A | P08637 | 860 |
| CEACAM8 | ITGAM | P11215 | 854 |
| CEACAM8 | LGALS3 | P17931 | 836 |
| CEACAM8 | GYPA | P02724 | 784 |
| CEACAM8 | NCAM1 | P13591 | 782 |
| CEACAM8 | FUT4 | P22083 | 773 |
| CEACAM8 | LTF | P02788 | 755 |
| CEACAM8 | SELL | P14151 | 753 |
| CEACAM8 | MPO | P05164 | 748 |
| CEACAM8 | ITGB2 | P05107 | 744 |
| CEACAM8 | CR1 | P17927 | 736 |
| CEACAM8 | CD33 | P20138 | 708 |
| CEACAM8 | CD274 | Q9NZQ7 | 679 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEACAM6 | CEACAM8 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| CEACAM8 | CEACAM6 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| CEACAM8 | CEACAM6 | psi-mi:“MI:0915”(physical association) | 0.820 |
| CEACAM8 | CEACAM1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| CEACAM1 | CEACAM8 | psi-mi:“MI:0915”(physical association) | 0.710 |
| CEACAM8 | CEACAM1 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| CEACAM8 | CEACAM8 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ZNF16 | CEACAM8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZPLD1 | CEACAM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CEACAM8 | PRRT4 | psi-mi:“MI:0914”(association) | 0.350 |
| ELOA2 | XRCC2 | psi-mi:“MI:0914”(association) | 0.350 |
| RHBDD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEACAM8 | HS3ST1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEACAM8 | VGF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (120): CEACAM8 (Affinity Capture-MS), CEACAM8 (Reconstituted Complex), NMU (Affinity Capture-MS), ITGA8 (Affinity Capture-MS), BMP7 (Affinity Capture-MS), LARGE (Affinity Capture-MS), GPC4 (Affinity Capture-MS), GALNS (Affinity Capture-MS), CPE (Affinity Capture-MS), CHSY3 (Affinity Capture-MS), PTPRS (Affinity Capture-MS), TXNDC11 (Affinity Capture-MS), MGAT5 (Affinity Capture-MS), MANEAL (Affinity Capture-MS), CACNA2D1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K2S4Q6, A6NI73, O75019, O75022, O75023, O76036, P0C191, P11464, P11465, P13688, P31997, P40199, P59901, Q00887, Q00888, Q00889, Q08708, Q0V881, Q15238, Q16557, Q28110, Q496F6, Q5M7U7, Q5SQ64, Q6GTX8, Q6ISS4, Q6MG56, Q6PI73, Q863H2, Q863H3, Q8C567, Q8IYS5, Q8MHY9, Q8MJZ2, Q8N149, Q8N423, Q8N6C8, Q8VBT3, Q95JB9, Q96LA5
Diamond homologs: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q14002, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q9UQ74, A0A140LHF2, P0DP72, P35329, Q15223, Q15746, Q58EX2, Q6V4S5, Q96FE5, Q9D1T0, Q9GL76
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1025 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:42591289:T:TA | donor_gain | 1.0000 |
| 19:42581350:CTGT:C | acceptor_gain | 0.9900 |
| 19:42589455:A:AC | donor_gain | 0.9900 |
| 19:42589456:C:CC | donor_gain | 0.9900 |
| 19:42589731:CTCCG:C | acceptor_gain | 0.9900 |
| 19:42589732:TCCG:T | acceptor_gain | 0.9900 |
| 19:42589733:CCG:C | acceptor_gain | 0.9900 |
| 19:42589733:CCGC:C | acceptor_gain | 0.9900 |
| 19:42589734:CG:C | acceptor_gain | 0.9900 |
| 19:42589734:CGC:C | acceptor_gain | 0.9900 |
| 19:42589736:C:CC | acceptor_gain | 0.9900 |
| 19:42589738:G:C | acceptor_gain | 0.9900 |
| 19:42581354:C:CC | acceptor_gain | 0.9800 |
| 19:42589735:GC:G | acceptor_loss | 0.9800 |
| 19:42589736:C:CA | acceptor_loss | 0.9800 |
| 19:42589741:C:CT | acceptor_gain | 0.9800 |
| 19:42593539:A:AC | donor_gain | 0.9800 |
| 19:42593540:C:CC | donor_gain | 0.9800 |
| 19:42589738:G:GC | acceptor_gain | 0.9700 |
| 19:42589742:A:T | acceptor_gain | 0.9700 |
| 19:42594759:CCTCA:C | donor_loss | 0.9700 |
| 19:42594760:CTCAC:C | donor_loss | 0.9700 |
| 19:42594761:TCA:T | donor_loss | 0.9700 |
| 19:42594762:CAC:C | donor_loss | 0.9700 |
| 19:42594764:C:CT | donor_loss | 0.9700 |
| 19:42589448:GATAC:G | donor_loss | 0.9600 |
| 19:42589449:ATAC:A | donor_loss | 0.9600 |
| 19:42589450:TACTC:T | donor_loss | 0.9600 |
| 19:42589451:ACTC:A | donor_loss | 0.9600 |
| 19:42589452:C:A | donor_loss | 0.9600 |
AlphaMissense
2260 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:42593764:C:A | W67C | 0.983 |
| 19:42593764:C:G | W67C | 0.983 |
| 19:42593766:A:G | W67R | 0.982 |
| 19:42593766:A:T | W67R | 0.982 |
| 19:42593645:A:G | L107P | 0.964 |
| 19:42589626:C:A | W178C | 0.962 |
| 19:42589626:C:G | W178C | 0.962 |
| 19:42589516:C:G | C215S | 0.961 |
| 19:42589517:A:T | C215S | 0.961 |
| 19:42593607:A:C | Y120D | 0.959 |
| 19:42589628:A:G | W178R | 0.955 |
| 19:42589628:A:T | W178R | 0.955 |
| 19:42593649:A:G | S106P | 0.955 |
| 19:42593600:A:G | L122P | 0.949 |
| 19:42588929:C:A | W271C | 0.945 |
| 19:42588929:C:G | W271C | 0.945 |
| 19:42589660:C:G | C167S | 0.942 |
| 19:42589661:A:T | C167S | 0.942 |
| 19:42589517:A:G | C215R | 0.936 |
| 19:42593765:C:G | W67S | 0.936 |
| 19:42593691:C:G | G92R | 0.934 |
| 19:42593691:C:T | G92R | 0.934 |
| 19:42588931:A:G | W271R | 0.931 |
| 19:42588931:A:T | W271R | 0.931 |
| 19:42593672:C:G | R98P | 0.930 |
| 19:42589661:A:G | C167R | 0.929 |
| 19:42589482:A:C | S226R | 0.928 |
| 19:42589482:A:T | S226R | 0.928 |
| 19:42589484:T:G | S226R | 0.928 |
| 19:42589660:C:T | C167Y | 0.921 |
dbSNP variants (sampled 300 via entrez): RS1000088569 (19:42596393 C>A,G,T), RS1000347199 (19:42582077 T>C), RS1000940941 (19:42583523 A>G), RS1000968172 (19:42588029 T>C,G), RS1000972396 (19:42596921 G>T), RS1001085189 (19:42594803 C>A), RS1001149837 (19:42589942 C>T), RS1001273133 (19:42587740 C>T), RS1001482903 (19:42590178 T>G), RS1001632534 (19:42591203 A>C), RS1002021458 (19:42583780 A>C), RS1002315153 (19:42591081 T>A), RS1002530472 (19:42580061 A>G), RS1002792456 (19:42587575 T>C), RS1003164784 (19:42587075 A>C,G)
Disease associations
OMIM: gene MIM:615747 | 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
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| fluorene-9-bisphenol | decreases expression | 1 |
| titanium dioxide | increases expression | 1 |
| ceric oxide | increases expression | 1 |
| tamibarotene | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| reparixin | decreases reaction, increases expression | 1 |
| Allergens | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Vanadium | increases expression | 1 |
| Zinc Oxide | increases expression | 1 |
| Coal Ash | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C0EL | HEK293-CEACAM8-Fc | Transformed cell line | Female |
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.