CEACAM18

Summary

CEACAM18 (CEA cell adhesion molecule 18, HGNC:31949) is a protein-coding gene on chromosome 19q13.41, encoding Cell adhesion molecule CEACAM18 (A8MTB9).

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001405061

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31949
Approved symbol	CEACAM18
Name	CEA cell adhesion molecule 18
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000213822
Ensembl biotype	protein_coding
Entrez	729767

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000396477, ENST00000695586

RefSeq mRNA: 1 — MANE Select: NM_001405061 NM_001405061

Canonical transcript exons

ENST00000396477 — 6 exons

Exon	Start	End
ENSE00001525086	51481393	51481665
ENSE00001525089	51480333	51480680
ENSE00001726121	51483017	51483296
ENSE00001772114	51478539	51478694
ENSE00003478337	51490587	51491301
ENSE00003619448	51484987	51485122

Expression profiles

Bgee: expression breadth broad, 20 present calls, max score 80.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0666 / max 36.5495, expressed in 10 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177224	0.0666	10

Top tissues by expression

129 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	80.68	gold quality
small intestine	UBERON:0002108	60.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	60.00	gold quality
gall bladder	UBERON:0002110	52.83	gold quality
bone marrow cell	CL:0002092	41.65	gold quality
mucosa of transverse colon	UBERON:0004991	40.97	silver quality
sural nerve	UBERON:0015488	38.33	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	34.55	gold quality
intestine	UBERON:0000160	34.14	gold quality
islet of Langerhans	UBERON:0000006	34.09	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
monocyte	CL:0000576	32.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
leukocyte	CL:0000738	32.04	gold quality
liver	UBERON:0002107	30.00	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality
smooth muscle tissue	UBERON:0001135	29.21	silver quality
rectum	UBERON:0001052	28.81	silver quality
blood	UBERON:0000178	27.70	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.66	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.49

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ceacam18	ENSMUSG00000030472
rattus_norvegicus	Ceacam18	ENSRNOG00000022701

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), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Cell adhesion molecule CEACAM18 — A8MTB9 (reviewed: A8MTB9)

Alternative names: Carcinoembryonic antigen-related cell adhesion molecule 18

All UniProt accessions (2): A0A8Q3SHY6, A8MTB9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

RefSeq proteins (1): NP_001391990* (*=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

UniProt features (14 total): glycosylation site 5, sequence variant 2, compositionally biased region 2, signal peptide 1, chain 1, disulfide bond 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MTB9-F1	79.68	0.65

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 (1): 255–296

Glycosylation sites (5): 270, 108, 112, 121, 162

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GSE13522_WT_VS_IFNG_KO_SKIN_UP, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_INTESTINE_INTESTINAL_EPITHELIAL_CELLS, GOBP_CELL_ADHESION, chr19q13, GOBP_HOMOPHILIC_CELL_CELL_ADHESION, GSE27859_MACROPHAGE_VS_CD11C_INT_F480_INT_DC_UP, GSE37301_MULTIPOTENT_PROGENITOR_VS_CD4_TCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM18	CEACAM19	Q7Z692	823
CEACAM18	CTU1	Q7Z7A3	465
CEACAM18	IGSF23	A1L1A6	389
CEACAM18	TM4SF20	Q53R12	377
CEACAM18	TGFB1	P01137	375
CEACAM18	ZNF615	Q8N8J6	375
CEACAM18	MINDY2	Q8NBR6	363
CEACAM18	SIGLEC12	Q96PQ1	359
CEACAM18	CD177	Q8N6Q3	350
CEACAM18	KLHL29	Q96CT2	342
CEACAM18	CEACAM20	Q6UY09	340
CEACAM18	ZNF574	Q6ZN55	338
CEACAM18	ITPRID2	P28290	336
CEACAM18	TMEM130	Q8N3G9	330
CEACAM18	ZFAT	Q9P243	311

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0B4J1G0, A0A0B4J1L0, A0A0G2KBC9, A1YIY0, A8MTB9, B6A8R8, C0HJX2, C0HJX3, E2RP87, H0VDZ8, P08637, P09326, P12314, P23505, P26151, P43626, P43627, P43628, P43631, P43632, P83555, P83556, Q01965, Q13291, Q14952, Q14953, Q14954, Q28942, Q2YHT5, Q61400, Q61450, Q640U3, Q68EV1, Q68SN8, Q6UX41, Q6UXE8, Q6UY09, Q6XJV4, Q6XPU4, Q7TST0

Diamond homologs: A8MTB9, O75871, Q14002, Q810J1, Q9D2Z1, Q9D871, A0A0B4J1L0, D3ZQE1, E9QA28, P06731, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, Q00887, Q00888, Q00889, Q13046, Q15238, Q16557, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q925P2, Q9UQ72, Q9UQ74, Q6UY09, Q90610, Q96RW7, G5EG78, P35917, P70193, Q91ZT1, Q92626

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

2 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1191 predictions. Top by Δscore:

Variant	Effect	Δscore
19:51481391:A:AG	acceptor_gain	1.0000
19:51481392:G:GG	acceptor_gain	1.0000
19:51481392:GA:G	acceptor_gain	1.0000
19:51481392:GAGTT:G	acceptor_gain	1.0000
19:51483271:G:GT	donor_gain	1.0000
19:51478693:GG:G	donor_gain	0.9900
19:51478694:GG:G	donor_gain	0.9900
19:51478694:GGTAA:G	donor_loss	0.9900
19:51478695:G:GA	donor_loss	0.9900
19:51478695:G:GG	donor_gain	0.9900
19:51478696:T:A	donor_loss	0.9900
19:51480443:G:GT	donor_gain	0.9900
19:51480452:GAA:G	donor_gain	0.9900
19:51480459:GCTG:G	donor_gain	0.9900
19:51480489:G:GT	donor_gain	0.9900
19:51480490:A:T	donor_gain	0.9900
19:51481381:T:A	acceptor_gain	0.9900
19:51481493:GTG:G	donor_gain	0.9900
19:51483011:CTACA:C	acceptor_loss	0.9900
19:51483012:TACA:T	acceptor_loss	0.9900
19:51483013:ACAG:A	acceptor_loss	0.9900
19:51483014:CAGAT:C	acceptor_loss	0.9900
19:51483015:A:T	acceptor_loss	0.9900
19:51483015:AGAT:A	acceptor_gain	0.9900
19:51483015:AGATG:A	acceptor_gain	0.9900
19:51483016:G:C	acceptor_loss	0.9900
19:51483016:GAT:G	acceptor_gain	0.9900
19:51483016:GATG:G	acceptor_gain	0.9900
19:51483016:GATGG:G	acceptor_gain	0.9900
19:51483256:C:G	donor_gain	0.9900

AlphaMissense

2557 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:51483144:G:C	W267C	0.968
19:51483144:G:T	W267C	0.968
19:51483227:G:C	R295P	0.966
19:51481496:G:C	W168C	0.948
19:51481496:G:T	W168C	0.948
19:51481494:T:A	W168R	0.943
19:51481494:T:C	W168R	0.943
19:51483229:T:A	C296S	0.943
19:51483230:G:C	C296S	0.943
19:51483223:T:G	Y294D	0.930
19:51483142:T:A	W267R	0.928
19:51483142:T:C	W267R	0.928
19:51483281:T:C	I313T	0.923
19:51483224:A:C	Y294S	0.915
19:51483224:A:G	Y294C	0.913
19:51480463:G:C	W61C	0.912
19:51480463:G:T	W61C	0.912
19:51483207:G:C	W288C	0.911
19:51483207:G:T	W288C	0.911
19:51483217:G:T	G292C	0.910
19:51483152:A:T	N270I	0.895
19:51480461:T:A	W61R	0.893
19:51480461:T:C	W61R	0.893
19:51483229:T:C	C296R	0.893
19:51481602:T:A	C204S	0.892
19:51481603:G:C	C204S	0.892
19:51483218:G:T	G292V	0.888
19:51481581:C:A	R197S	0.883
19:51481638:A:C	S216R	0.883
19:51481640:T:A	S216R	0.883

dbSNP variants (sampled 300 via entrez): RS1000199612 (19:51479735 C>G,T), RS1000484790 (19:51479940 G>A), RS1000622458 (19:51491334 A>C), RS1000624739 (19:51483195 G>A,C), RS1000717429 (19:51485517 G>T), RS1000758566 (19:51491063 G>A,C), RS1001205479 (19:51481106 T>C), RS1001318121 (19:51486735 T>A), RS1001745865 (19:51478937 C>T), RS1002003945 (19:51483765 A>G), RS1002056985 (19:51483919 G>A), RS1002142677 (19:51489148 C>T), RS1002453118 (19:51482390 C>T), RS1002484456 (19:51482646 A>G), RS1002873125 (19:51490029 C>T)

Disease associations

OMIM: gene `` | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	increases methylation	1

Clinical trials (associated diseases)

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