CEACAM20

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 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_001102597

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: 5 — 5 protein_coding

ENST00000611497, ENST00000614577, ENST00000614924, ENST00000620096, ENST00000621342

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.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181398	0.1061	7
181399	0.0121	3

Top tissues by expression

116 total, 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

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

Regulation

Is transcription factor: no

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

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:198329	ENSDARG00000076981
danio_rerio	si:dkey-250k15.8	ENSDARG00000078177
danio_rerio	si:ch211-264f5.6	ENSDARG00000079372
danio_rerio	si:dkey-250k15.10	ENSDARG00000092520
danio_rerio	si:dkey-11o1.3	ENSDARG00000093279
danio_rerio	si:dkey-250k15.7	ENSDARG00000095048
danio_rerio	si:dkey-250k15.9	ENSDARG00000095134
danio_rerio	si:dkey-11o1.2	ENSDARG00000095772
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)

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UY09-F1	73.87	0.52

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): 578, 589

Disulfide bonds (3): 90–138, 276–324, 375–416

Glycosylation sites (7): 96, 105, 280, 306, 317, 368, 415

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

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 (6): plasma membrane (GO:0005886), cell surface (GO:0009986), apical plasma membrane (GO:0016324), microvillus membrane (GO:0031528), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
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
apical part of cell	1
plasma membrane region	1
microvillus	1
cell projection membrane	1

Protein interactions and networks

STRING

814 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM20	CEACAM19	Q7Z692	741
CEACAM20	CEACAM4	O75871	600
CEACAM20	CEACAM3	P40198	542
CEACAM20	PRAMEF19	Q5SWL8	487
CEACAM20	LHFPL1	Q86WI0	393
CEACAM20	SMIM11	P58511	367
CEACAM20	RGPD1	P0C839	361
CEACAM20	ZNF23	P17027	349
CEACAM20	NHLRC3	Q5JS37	348
CEACAM20	CEACAM18	A8MTB9	340
CEACAM20	PTPRH	Q9HD43	324
CEACAM20	RBM12B	Q8IXT5	321
CEACAM20	SMAGP	Q0VAQ4	321
CEACAM20	Q32Q12	Q32Q12	293
CEACAM20	CIBAR1	A1XBS5	280
CEACAM20	PCDHGA9	Q9Y5G4	280

IntAct

0 interactions, top by confidence:

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: A0A0B4J1L0, D3ZQE1, E9QA28, O75871, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q0E9H9, Q13046, Q14002, Q15238, Q2WEN9, Q3KPI0, Q63111, Q6UY09, Q810J1, Q925P2, Q9D2Z1, Q9UQ72, Q61400, P60755, P60756, Q16557, Q28730, Q28824, Q3UKK2, Q7Z553, Q9N2I5, Q9UQ74, Q9D871, P20273

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1693 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44512862:ACTT:A	donor_loss	1.0000
19:44512863:CTTA:C	donor_loss	1.0000
19:44512864:TTA:T	donor_loss	1.0000
19:44512865:TACCG:T	donor_loss	1.0000
19:44512866:A:AC	donor_gain	1.0000
19:44512867:C:CC	donor_gain	1.0000
19:44512950:GGGC:G	acceptor_gain	1.0000
19:44512951:GGC:G	acceptor_gain	1.0000
19:44512952:GC:G	acceptor_gain	1.0000
19:44512953:CC:C	acceptor_gain	1.0000
19:44512954:C:CC	acceptor_gain	1.0000
19:44512954:C:CG	acceptor_loss	1.0000
19:44523985:CA:C	donor_gain	1.0000
19:44529454:TCA:T	donor_loss	1.0000
19:44529455:CA:C	donor_loss	1.0000
19:44529457:C:CA	donor_loss	1.0000
19:44511025:CATA:C	donor_loss	0.9900
19:44511026:ATAC:A	donor_loss	0.9900
19:44511027:TA:T	donor_loss	0.9900
19:44511028:A:AT	donor_loss	0.9900
19:44511156:C:CC	acceptor_gain	0.9900
19:44511594:T:A	donor_gain	0.9900
19:44512867:CCGGA:C	donor_gain	0.9900
19:44512949:AGGGC:A	acceptor_gain	0.9900
19:44512951:GGCCT:G	acceptor_gain	0.9900
19:44512952:GCCTG:G	acceptor_gain	0.9900
19:44512955:T:G	acceptor_loss	0.9900
19:44513171:CCGT:C	donor_gain	0.9900
19:44513290:CT:C	acceptor_loss	0.9900
19:44520472:A:AC	donor_gain	0.9900

AlphaMissense

3866 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:44520643:C:A	W287C	0.995
19:44520643:C:G	W287C	0.995
19:44517094:C:A	W387C	0.994
19:44517094:C:G	W387C	0.994
19:44520645:A:G	W287R	0.993
19:44520645:A:T	W287R	0.993
19:44524155:C:A	W101C	0.987
19:44524155:C:G	W101C	0.987
19:44517008:C:G	C416S	0.986
19:44517009:A:T	C416S	0.986
19:44517096:A:G	W387R	0.986
19:44517096:A:T	W387R	0.986
19:44520578:A:G	L309P	0.985
19:44520540:A:C	Y322D	0.984
19:44517131:C:G	C375S	0.982
19:44517132:A:T	C375S	0.982
19:44520533:C:G	C324S	0.981
19:44520534:A:T	C324S	0.981
19:44520677:C:G	C276S	0.981
19:44520678:A:T	C276S	0.981
19:44522703:A:C	Y228D	0.979
19:44517007:G:C	C416W	0.978
19:44520533:C:T	C324Y	0.977
19:44520678:A:G	C276R	0.976
19:44524045:C:G	C138S	0.976
19:44524046:A:T	C138S	0.976
19:44520683:A:G	L274P	0.975
19:44524157:A:G	W101R	0.975
19:44524157:A:T	W101R	0.975
19:44520534:A:G	C324R	0.973

dbSNP variants (sampled 300 via entrez): RS1000114362 (19:44525793 G>T), RS1000329894 (19:44523350 A>G), RS1000387758 (19:44529256 C>G,T), RS1000425027 (19:44511341 G>A), RS1000440087 (19:44528733 T>C,G), RS1000446951 (19:44527879 G>T), RS1000490525 (19:44528472 C>A), RS1000768732 (19:44521738 TTGTG>T), RS1001222328 (19:44521870 C>T), RS1001251145 (19:44511462 A>G), RS1001410512 (19:44516473 C>T), RS1001517912 (19:44523033 T>C), RS1001943733 (19:44522376 T>G), RS1002027995 (19:44509128 G>T), RS1002117711 (19:44527958 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005950_15	Body mass index x sex x age interaction (4df test)	2.000000e-10
GCST005951_56	Body mass index	1.000000e-06
GCST005952_8	Body mass index (age>50)	9.000000e-12
GCST005954_4	Body mass index x age interaction	2.000000e-07
GCST007320_43	Alzheimer’s disease or family history of Alzheimer’s disease	1.000000e-12

EFO canonical traits (4, from GWAS)

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

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

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	decreases expression, affects cotreatment	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

11 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	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	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	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