CEACAM20
gene geneOn this page
Also known as UNQ9366
Summary
CEACAM20 (CEA cell adhesion molecule 20, HGNC:24879) is a protein-coding gene on chromosome 19q13.31, encoding Cell adhesion molecule CEACAM20 (Q6UY09). Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response.
Predicted to enable protein tyrosine kinase binding activity. Predicted to be involved in regulation of immune system process and signal transduction. Predicted to be located in apical plasma membrane and microvillus membrane. Predicted to be active in cell surface and plasma membrane.
Source: NCBI Gene 125931 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 82 total
- GTEx eGene: eQTL in 4 tissues, sQTL in 0 (q < 0.05)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.05 (unconstrained)
- MANE Select transcript:
NM_001102597 - Notable: 82 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24879 |
| Approved symbol | CEACAM20 |
| Name | CEA cell adhesion molecule 20 |
| Location | 19q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UNQ9366 |
| Ensembl gene | ENSG00000273777 |
| Ensembl biotype | protein_coding |
| Entrez | 125931 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
MANE Select: ENST00000614924
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 5
ENST00000614924, ENST00000611497, ENST00000614577, ENST00000620096, ENST00000621342, ENST00001142114
RefSeq mRNA: 4 — MANE Select: NM_001102597
NM_001102597, NM_001102598, NM_001102599, NM_001102600
CCDS: CCDS74390, CCDS74391, CCDS74392, CCDS74393
Canonical transcript exons
ENST00000614924 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003718346 | 44520474 | 44520752 |
| ENSE00003718746 | 44511637 | 44511672 |
| ENSE00003719973 | 44512868 | 44512953 |
| ENSE00003723804 | 44522634 | 44522912 |
| ENSE00003726458 | 44512017 | 44512078 |
| ENSE00003738495 | 44525101 | 44525244 |
| ENSE00003739328 | 44523986 | 44524261 |
| ENSE00003740228 | 44513172 | 44513289 |
| ENSE00003741427 | 44511030 | 44511155 |
| ENSE00003747426 | 44506159 | 44506214 |
| ENSE00003752094 | 44516946 | 44517224 |
| ENSE00003890488 | 44529458 | 44529675 |
Expression profiles
Bgee: expression breadth broad, 36 present calls, max score 92.71.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1182 / max 146.3176, expressed in 9 samples.
Highest expression (Bgee): duodenum, small intestine, small intestine Peyer’s patch, gall bladder, prostate gland.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CEACAM20 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 4 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
4 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Testis | eqtl | 9.9e-06 | +0.42 | 19:44536461:G:A |
| Adrenal Gland | eqtl | 7.1e-03 | +1.58 | 19:44037780:C:T |
| Lung | eqtl | 1.7e-02 | -0.25 | 19:44606802:C:G |
| Liver | eqtl | 2.8e-02 | -0.38 | 19:44738850:G:A |
FANTOM5 promoters
2 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181398 | 0.1061 | 7 |
| 181399 | 0.0121 | 3 |
Top tissues by expression
showing 100 of 116 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 92.71 | gold quality |
| small intestine | UBERON:0002108 | 78.36 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.92 | gold quality |
| gall bladder | UBERON:0002110 | 55.78 | gold quality |
| prostate gland | UBERON:0002367 | 48.10 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 48.00 | gold quality |
| right lobe of liver | UBERON:0001114 | 46.94 | gold quality |
| liver | UBERON:0002107 | 45.47 | gold quality |
| intestine | UBERON:0000160 | 44.66 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 44.57 | gold quality |
| placenta | UBERON:0001987 | 43.37 | gold quality |
| vermiform appendix | UBERON:0001154 | 42.11 | silver quality |
| colonic epithelium | UBERON:0000397 | 41.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 40.42 | gold quality |
| bone marrow cell | CL:0002092 | 40.27 | gold quality |
| stromal cell of endometrium | CL:0002255 | 39.49 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 38.72 | gold quality |
| rectum | UBERON:0001052 | 38.71 | silver quality |
| left testis | UBERON:0004533 | 38.54 | gold quality |
| right testis | UBERON:0004534 | 38.39 | gold quality |
| testis | UBERON:0000473 | 38.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 37.67 | gold quality |
| bone marrow | UBERON:0002371 | 37.48 | gold quality |
| granulocyte | CL:0000094 | 37.45 | gold quality |
| muscle tissue | UBERON:0002385 | 37.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 37.35 | silver quality |
| adrenal gland | UBERON:0002369 | 36.99 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| apex of heart | UBERON:0002098 | 36.25 | gold quality |
| tonsil | UBERON:0002372 | 36.07 | gold quality |
| sural nerve | UBERON:0015488 | 35.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 34.60 | gold quality |
| mucosa of stomach | UBERON:0001199 | 34.48 | gold quality |
| urinary bladder | UBERON:0001255 | 33.58 | silver quality |
| transverse colon | UBERON:0001157 | 33.45 | gold quality |
| leukocyte | CL:0000738 | 32.59 | gold quality |
| monocyte | CL:0000576 | 32.44 | gold quality |
| cortex of kidney | UBERON:0001225 | 32.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| colon | UBERON:0001155 | 32.12 | gold quality |
| prefrontal cortex | UBERON:0000451 | 30.49 | gold quality |
| lymph node | UBERON:0000029 | 30.29 | gold quality |
| adrenal tissue | UBERON:0018303 | 29.97 | gold quality |
| right uterine tube | UBERON:0001302 | 29.93 | gold quality |
| fallopian tube | UBERON:0003889 | 29.89 | silver quality |
| endometrium | UBERON:0001295 | 29.63 | gold quality |
| myometrium | UBERON:0001296 | 29.39 | gold quality |
| uterine cervix | UBERON:0000002 | 29.05 | gold quality |
| multicellular organism | UBERON:0000468 | 28.76 | gold quality |
| fundus of stomach | UBERON:0001160 | 28.73 | gold quality |
| endocervix | UBERON:0000458 | 28.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 28.19 | gold quality |
| kidney | UBERON:0002113 | 28.07 | gold quality |
| islet of Langerhans | UBERON:0000006 | 28.03 | gold quality |
| pituitary gland | UBERON:0000007 | 27.79 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 27.51 | gold quality |
| cerebellar cortex | UBERON:0002129 | 27.44 | gold quality |
| pancreas | UBERON:0001264 | 27.43 | gold quality |
| right atrium auricular region | UBERON:0006631 | 27.41 | gold quality |
| cerebellum | UBERON:0002037 | 27.40 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 27.39 | gold quality |
| ectocervix | UBERON:0012249 | 27.25 | gold quality |
| calcaneal tendon | UBERON:0003701 | 26.89 | gold quality |
| frontal cortex | UBERON:0001870 | 26.75 | gold quality |
| adenohypophysis | UBERON:0002196 | 26.57 | gold quality |
| tibial nerve | UBERON:0001323 | 26.56 | gold quality |
| body of pancreas | UBERON:0001150 | 26.15 | gold quality |
| right lung | UBERON:0002167 | 26.07 | gold quality |
| body of uterus | UBERON:0009853 | 26.04 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 25.81 | silver quality |
| skin of leg | UBERON:0001511 | 25.49 | gold quality |
| tibial artery | UBERON:0007610 | 25.48 | gold quality |
| popliteal artery | UBERON:0002250 | 25.43 | gold quality |
| Ammon’s horn | UBERON:0001954 | 25.30 | gold quality |
| cerebral cortex | UBERON:0000956 | 25.26 | gold quality |
| esophagus | UBERON:0001043 | 25.18 | gold quality |
| esophagus mucosa | UBERON:0002469 | 25.08 | gold quality |
| lower esophagus | UBERON:0013473 | 25.01 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 25.00 | gold quality |
| zone of skin | UBERON:0000014 | 24.96 | gold quality |
| spleen | UBERON:0002106 | 24.92 | gold quality |
| primary visual cortex | UBERON:0002436 | 24.61 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 24.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 24.56 | gold quality |
| left uterine tube | UBERON:0001303 | 24.43 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 24.08 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 24.06 | gold quality |
| ascending aorta | UBERON:0001496 | 24.05 | gold quality |
| thoracic aorta | UBERON:0001515 | 24.04 | gold quality |
| thyroid gland | UBERON:0002046 | 24.01 | gold quality |
| right ovary | UBERON:0002118 | 23.98 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 23.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 23.74 | gold quality |
| substantia nigra | UBERON:0002038 | 23.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 23.58 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 23.50 | gold quality |
| temporal lobe | UBERON:0001871 | 23.23 | gold quality |
| ovary | UBERON:0000992 | 23.17 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.09 |
| E-ENAD-17 | no | 45.20 |
HPA expression
RNA tissue specificity: Tissue enriched
37 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Small intestine | tissue | 35.6 |
| Duodenum | tissue | 35.2 |
| Prostate | tissue | 7.9 |
| Cerebellum | tissue | 1.5 |
| Olfactory bulb | tissue | 1.3 |
| Cerebral cortex | tissue | 1.1 |
| Retrosplenial and cingulate cortex | tissue | 1.1 |
| Retrosplenial cortex | tissue | 1.1 |
| Occipital cortex | tissue | 1.1 |
| Insular cortex | tissue | 1.1 |
| Prefrontal cortex | tissue | 1.0 |
| Motor cortex | tissue | 1.0 |
| Basal ganglia | tissue | 1.0 |
| Amygdala | tissue | 1.0 |
| Corpus callosum | tissue | 1.0 |
| Hippocampal formation | tissue | 1.0 |
| Entorhinal cortex | tissue | 1.0 |
| Somatosensory cortex | tissue | 1.0 |
| Temporal cortex | tissue | 1.0 |
| Ventral forebrain | tissue | 0.9 |
| Septum | tissue | 0.9 |
| Putamen | tissue | 0.8 |
| Periaqueductal gray | tissue | 0.8 |
| Medulla oblongata | tissue | 0.7 |
| Hypothalamus | tissue | 0.7 |
| Superior colliculi | tissue | 0.7 |
| Substantia nigra | tissue | 0.7 |
| Gallbladder | tissue | 0.7 |
| Spinal cord | tissue | 0.7 |
| Pons | tissue | 0.6 |
| Midbrain | tissue | 0.6 |
| Thalamus | tissue | 0.6 |
| Testis | tissue | 0.4 |
| Smooth muscle | tissue | 0.3 |
| Placenta | tissue | 0.1 |
| Liver | tissue | 0.1 |
| Tonsil | tissue | 0.1 |
Brain sub-regions (HPA Brain Atlas): detected in 9; highest nTPM — Subiculum (1.0), White matter (1.0), Dorsal hippocampus (0.9), Ventral hippocampus (0.9), Dorsal spinal cord (0.7).
Regulation
Is transcription factor: no
Functional genomics
gnomAD constraint: pLI 1.97e-14, LOEUF 1.05, missense Z 0.991 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000614924 — one region, missense o/e 0.93.
Literature-anchored findings (GeneRIF, showing 2)
- conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids (PMID:23358633)
- tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity (PMID:28659570)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:dkeyp-97a10.3 | ENSDARG00000104656 |
| danio_rerio | si:dkey-11o1.7 | ENSDARG00000105324 |
| mus_musculus | Ceacam20 | ENSMUSG00000070777 |
| rattus_norvegicus | Ceacam20 | ENSRNOG00000019260 |
Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), 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)
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| ZNF180 | protein-coding | 7733 |
| ZNF229 | protein-coding | 7772 |
| MIR4531 | ncRNA | 100616355 |
| IGSF23 | protein-coding | 147710 |
| CEACAM19 | protein-coding | 56971 |
| PVR | protein-coding | 5817 |
| ZNF285 | protein-coding | 26974 |
Protein
Protein identifiers
Cell adhesion molecule CEACAM20 — Q6UY09 (reviewed: Q6UY09)
Alternative names: Carcinoembryonic antigen-related cell adhesion molecule 20
All UniProt accessions (1): Q6UY09
UniProt curated annotations — full annotation on UniProt →
Function. Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response.
Subunit / interactions. Interacts (via extracellular domain) with PTPRH (via extracellular domain); the interaction dephosphorylates CEACAM20. Interacts (phosphorylated form) with SYK (via SH2 domains); the interaction further enhances CEACAM20 phosphorylation.
Subcellular location. Cell projection. Microvillus membrane. Apical cell membrane.
Post-translational modifications. Phosphorylated on tyrosine residues by SYK, SRC and FYN in vitro.
Similarity. Belongs to the immunoglobulin superfamily. CEA family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6UY09-1 | 1 | yes |
| Q6UY09-2 | 2 | |
| Q6UY09-3 | 3 | |
| Q6UY09-4 | 4 | |
| Q6UY09-5 | 5 |
RefSeq proteins (4): NP_001096067, NP_001096068, NP_001096069, NP_001096070 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR052598 | IgSF_CEA-related | Family |
Pfam: PF13927
UniProt features (37 total): glycosylation site 7, sequence variant 7, domain 4, disulfide bond 3, splice variant 3, region of interest 2, compositionally biased region 2, modified residue 2, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6UY09-F1 | 73.87 | 0.52 |
Human Protein Atlas
Protein class: Predicted membrane proteins, UniProt - Evidence at transcript level
Protein evidence: Evidence at protein level
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 (2)
| Type | Positions |
|---|---|
| Phosphotyrosine | 578, 589 |
Disulfide bonds (3)
| Type | Positions |
|---|---|
| Disulfide bond | 90–138, 276–324, 375–416 |
Glycosylation sites (7)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 96, 105, 280, 306, 317, 368, 415 |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 40 (showing top):
GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_CYTOKINE_PRODUCTION, GOCC_APICAL_PLASMA_MEMBRANE, AACTTT_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_APICAL_PART_OF_CELL, GOCC_MICROVILLUS, GOCC_MICROVILLUS_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_ACTIN_BASED_CELL_PROJECTION, GOBP_RESPONSE_TO_BACTERIUM, GOMF_KINASE_BINDING
GO Biological Process (5): positive regulation of cytokine production (GO:0001819), immune system process (GO:0002376), regulation of immune system process (GO:0002682), signal transduction (GO:0007165), response to bacterium (GO:0009617)
GO Molecular Function (1): protein tyrosine kinase binding (GO:1990782)
GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), apical plasma membrane (GO:0016324), microvillus membrane (GO:0031528)
GO top-level categories
21 GO namespaces:
| Category | Terms |
|---|---|
| cytokine production | 1 |
| regulation of cytokine production | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of multicellular organismal process | 1 |
| biological_process | 1 |
| immune system process | 1 |
| regulation of biological process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| response to other organism | 1 |
| protein kinase binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| microvillus | 1 |
| cell projection membrane | 1 |
Protein interactions and networks
STRING
showing 15 of 232 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEACAM20 | CEACAM19 | Q7Z692 | 746 |
| CEACAM20 | CEACAM4 | O75871 | 610 |
| CEACAM20 | CEACAM3 | P40198 | 495 |
| CEACAM20 | PRAMEF19 | Q5SWL8 | 419 |
| CEACAM20 | ZNF23 | P17027 | 400 |
| CEACAM20 | A0A087WTH5 | A0A087WTH5 | 359 |
| CEACAM20 | OR10G2 | Q8NGC3 | 345 |
| CEACAM20 | CEACAM18 | A8MTB9 | 337 |
| CEACAM20 | SMIM11 | P58511 | 315 |
| CEACAM20 | SPDYE3 | A6NKU9 | 314 |
| CEACAM20 | LHFPL1 | Q86WI0 | 308 |
| CEACAM20 | TRERF1 | Q96PN7 | 295 |
| CEACAM20 | PTPRH | Q9HD43 | 273 |
| CEACAM20 | RGPD1 | P0C839 | 270 |
| CEACAM20 | CEACAM21 | Q3KPI0 | 262 |
Disease & clinical
Genetic variants
Variant evidence for CEACAM20: 82 ClinVar records (0 pathogenic / likely pathogenic); 5 GWAS associations.
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 75 |
| Likely benign | 4 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 34 predictions of 897):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:44511594 | donor_gain | 1.0000 | |
| 19:44512955 | acceptor_loss | 1.0000 | |
| 19:44511028–44511029 | donor_loss | 0.9900 | 5 |
| 19:44511156–44511157 | acceptor_loss | 0.9900 | 4 |
| 19:44512015–44512016 | donor_loss | 0.9900 | 5 |
| 19:44512079–44512080 | acceptor_loss | 0.9900 | 4 |
| 19:44512866–44512867 | donor_loss | 0.9900 | 5 |
| 19:44512954–44512955 | acceptor_loss | 0.9900 | 2 |
| 19:44513290–44513291 | acceptor_loss | 0.9900 | 6 |
| 19:44524262 | acceptor_gain | 0.9900 |
AlphaMissense
437 missense substitutions predicted likely pathogenic (of 3,866 scored), across 152 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D132 | 8 | 0.885 | 0.948 |
| W287 | 7 | 0.968 | 0.995 |
| C324 | 7 | 0.963 | 0.981 |
| C276 | 7 | 0.961 | 0.981 |
| C416 | 7 | 0.960 | 0.986 |
| W387 | 7 | 0.956 | 0.994 |
| C375 | 7 | 0.950 | 0.982 |
| W101 | 7 | 0.928 | 0.987 |
| C138 | 7 | 0.917 | 0.976 |
| C90 | 7 | 0.889 | 0.945 |
| W201 | 7 | 0.867 | 0.968 |
| C230 | 7 | 0.858 | 0.941 |
| N420 | 7 | 0.852 | 0.972 |
| D318 | 7 | 0.807 | 0.892 |
| N234 | 7 | 0.781 | 0.949 |
| S335 | 6 | 0.880 | 0.966 |
| P346 | 6 | 0.875 | 0.961 |
| G345 | 6 | 0.865 | 0.963 |
| S149 | 6 | 0.822 | 0.948 |
| V156 | 6 | 0.800 | 0.923 |
HPA cancer prognostics
RNA cancer specificity: Cancer enriched (Prostate Adenocarcinoma)
Disease associations
OMIM: gene `` | disease phenotypes:
GWAS associations
5 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST007320_18 | Alzheimer’s disease or family history of Alzheimer’s disease | 1e-12 |
| GCST005952_8 | Body mass index (age>50) | 9e-12 |
| GCST005950_15 | Body mass index x sex x age interaction (4df test) | 2e-10 |
| GCST005954_4 | Body mass index x age interaction | 2e-7 |
| GCST005951_66 | Body mass index | 1e-6 |
EFO canonical traits (from GWAS)
4 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0009268 | family history of Alzheimer’s disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
12 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | Phase 3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | Phase 2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | Phase 2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | Phase 1/2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | Phase 1/2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | Early Phase 1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | Early Phase 1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT07628634 | Early Phase 1 | RECRUITING | Feasibility Study on the Effect of a Methionine-Reduced Diet on Serum Levels in Pts w/ Solid Tumors |
| NCT01208974 | Not specified | COMPLETED | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
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