CEACAM3

Summary

CEACAM3 (CEA cell adhesion molecule 3, HGNC:1815) is a protein-coding gene on chromosome 19q13.2, encoding Cell adhesion molecule CEACAM3 (P40198). Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system.

This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 1084 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cystic fibrosis (Supportive, GenCC)
• Clinical variants (ClinVar): 58 total
• Phenotypes (HPO): 35
• MANE Select transcript: NM_001815

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1815
Approved symbol	CEACAM3
Name	CEA cell adhesion molecule 3
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	CD66d, CGM1a
Ensembl gene	ENSG00000170956
Ensembl biotype	protein_coding
OMIM	609142
Entrez	1084

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000344550, ENST00000357396, ENST00000415495, ENST00000595255, ENST00000596544, ENST00000599305, ENST00000599662, ENST00000630848

RefSeq mRNA: 2 — MANE Select: NM_001815 NM_001277163, NM_001815

CCDS: CCDS12586, CCDS62685

Canonical transcript exons

ENST00000357396 — 7 exons

Exon	Start	End
ENSE00001847449	41796587	41796741
ENSE00003568592	41808813	41808930
ENSE00003604849	41797589	41797948
ENSE00003616653	41810323	41810354
ENSE00003623311	41809965	41810017
ENSE00003639986	41811172	41811554
ENSE00003676341	41810832	41810897

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 93.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.8476 / max 820.3614, expressed in 160 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176061	3.0381	147
208832	0.2904	17
176062	0.2667	40
176063	0.2351	16
208831	0.0173	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	93.64	gold quality
granulocyte	CL:0000094	89.35	gold quality
bone marrow	UBERON:0002371	87.60	gold quality
diaphragm	UBERON:0001103	87.43	gold quality
bone marrow cell	CL:0002092	86.74	gold quality
pancreatic ductal cell	CL:0002079	86.57	silver quality
periodontal ligament	UBERON:0008266	84.79	gold quality
leukocyte	CL:0000738	82.86	gold quality
type B pancreatic cell	CL:0000169	82.58	gold quality
monocyte	CL:0000576	82.34	gold quality
hair follicle	UBERON:0002073	82.26	gold quality
mononuclear cell	CL:0000842	82.24	gold quality
olfactory bulb	UBERON:0002264	81.87	gold quality
epithelial cell of pancreas	CL:0000083	81.71	gold quality
spleen	UBERON:0002106	81.02	gold quality
endometrium epithelium	UBERON:0004811	80.84	gold quality
vastus lateralis	UBERON:0001379	80.56	gold quality
quadriceps femoris	UBERON:0001377	80.25	gold quality
tibialis anterior	UBERON:0001385	79.16	silver quality
tongue squamous epithelium	UBERON:0006919	78.79	gold quality
triceps brachii	UBERON:0001509	77.30	gold quality
myocardium	UBERON:0002349	76.97	gold quality
vena cava	UBERON:0004087	76.77	gold quality
mucosa of transverse colon	UBERON:0004991	76.64	gold quality
gluteal muscle	UBERON:0002000	76.56	gold quality
trabecular bone tissue	UBERON:0002483	76.47	gold quality
deltoid	UBERON:0001476	76.13	gold quality
thymus	UBERON:0002370	75.89	gold quality
caecum	UBERON:0001153	75.79	gold quality
orbitofrontal cortex	UBERON:0004167	75.73	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	133.54
E-MTAB-9801	yes	8.31
E-ANND-3	yes	5.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

6 targeting CEACAM3, 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-24-3P	99.59	69.97	1934
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-3664-3P	97.85	67.62	1452

Literature-anchored findings (GeneRIF, showing 34)

• CEACAM3 has a role in internalizing bacteria to epithelial cells (PMID:12571236)
• CEACAM3 controls human-specific pathogens by the innate immune system. (PMID:14707113)
• Molecular staging of SLN using real-time RT-PCR for early breast cancer could serve as a useful complement to standard clinicopathological risk factors. (PMID:17071045)
• Increased p53, CEA, and CA 19-9 serum levels are associated with colorectal cancer. (PMID:17211733)
• Our results suggest that an immunohistochemical panel consisting of TTF-1, CEA, CA-125, and OCT-4 is helpful in distinguishing most pulmonary and ovarian carcinomas with clear cell features. (PMID:17413979)
• These data reveal CEACAM3 as a specific innate immune receptor that mediates the opsonin-independent clearance of CEACAM-binding bacteria via Syk, a molecular trigger for functional immunoreceptor responses of both the adaptive and innate immune systems. (PMID:17506820)
• killing of bulk NK cultures was inhibited by CEA-expressing cells, suggesting that this putative receptor is an inhibitory receptor (PMID:17878338)
• 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)
• Increased CA 19-9 level is associated with pancreatic adenocarcinoma and cholangiocarcinoma. (PMID:19089662)
• CEACAM6 and a regulatory element near the 3’ end of CEACAM3 are associated with cystic fibrosis disease severity and intrapair discordance (PMID:20047061)
• CA-19.9 serum tumor marker levels retain independent prognostic value for poor survival in patients with advanced pancreatic cancer. (PMID:20071292)
• the prognostic value of preoperative serum carbohydrate antigen19-9, carcinoembryonic antigen, and carbohydrate antigen 125 for overall survival in patients with colorectal cancer was studied (PMID:20373053)
• the ability of CEACAM3 to coordinate signaling events that not only mediate bacterial uptake, but also trigger the killing of internalized pathogens. (PMID:21216968)
• The authors show that the expression of CEACAM1 and CEACAM6 potentiate CEACAM3-dependent responses of neutrophils, exposing a cooperative role for this family of proteins during neisserial infection of neutrophils. (PMID:22064717)
• The higher expression of CD44v6, integrin-beta1, CA199, and CEA are closely related to the progression and metastasis of pancreatic cancer.[CA199, CD44v6] (PMID:22382453)
• CEACAM3 promotes opsonin-independent phagocytosis of CEACAM-binding bacteria. CEACAM3 is the main driver for this process on human granulocytes. (PMID:22469950)
• Grb14 is the first negative regulator of CEACAM3-initiated bacterial phagocytosis and might help to focus granulocyte responses to the subcellular sites of pathogen-host cell contact (PMID:22948154)
• A failure of CEACAM3-mediated innate immune detection might be linked to the ability of gonococci to cause disseminated infections. (PMID:23630956)
• COLIV is a promising tumour marker for CLM and can possibly be used to detect postoperative CLM recurrence. The combination of COLIV and CEA is superior to either marker alone in detecting CLM (PMID:26162539)
• Demonstrated the CEACAM3 specificity and a perioperative trend of circulating tumor cells which is coherent with the clinical/pathological considerations in colorectal cancer. (PMID:26556959)
• CEACAM3 signalling in neutrophils is able to specifically modulate airway inflammation caused by infection with M. catarrhalis. (PMID:27038042)
• Opacity protein OpaI of Neisseria gonorrhoeae in lipooligosaccharide mutants lost ability to interact with neutrophil-restricted CEACAM3. (PMID:27376801)
• We demonstrate that recombinant Neisseria Opa proteins reconstituted into liposomes retain the ability to recognize and interact with CEACAM1 and 3 in vitro but do not maintain receptor specificity compared to that of Opa proteins natively expressed by Neisseria gonorrhoeae. (PMID:27442026)
• p-CEA measurement in patients with pleural effusion of uncertain etiology is a safe and cost-effective procedure, everywhere easily available, which may help clinicians in selecting patients for further evaluations (PMID:27521620)
• Helicobacter pylori HopQ binds the amino-terminal IgV-like domain of human CEACAM1, CEACAM3, CEACAM5 or CEACAM6 proteins, thereby enabling translocation of the major pathogenicity factor CagA into host cells. (PMID:27748756)
• Here, the authors identify members of the carcinoembryonic antigen-related cell adhesion molecule (CEACAM) family as receptors of Helicobacter pylori and show that HopQ is the surface-exposed adhesin that specifically binds human CEACAM1, CEACAM3, CEACAM5 and CEACAM6. (PMID:27748768)
• the findings reveal an integration of the specific innate immune receptor CEACAM3 into the network of more conventional pattern recognition receptors, providing a mechanism by which the innate immune system can unleash its response to a relentless pathogen. (PMID:28886618)
• Amino acid alterations found in CEACAM3 translate into characteristic binding patterns for bacterial adhesins. One such amino acid residue is F62 in human and chimp CEACAM3, which is critical for binding the OMP P1 adhesin of Haemophilus aegyptius. Incorporation of the F62-containing motif into gorilla CEACAM3 results in a gain-of-function phenotype with regard to phagocytosis of H. aegyptius. (PMID:30744974)
• High serum CEA expression is associated with systemic recurrence in colorectal cancer. (PMID:30852955)
• CEACAM3 decreases asthma exacerbations and modulates respiratory syncytial virus latent infection in children. (PMID:32606071)
• Antibody ligation of CEACAM1, CEACAM3, and CEACAM6, differentially enhance the cytokine release of human neutrophils in responses to Candida albicans. (PMID:34847408)
• Phagocytosis mediated by the human granulocyte receptor CEACAM3 is limited by the receptor-type protein tyrosine phosphatase PTPRJ. (PMID:35850306)
• Diffusion-weighted magnetic resonance sequence and CA125/CEA ratio can be used as add-on tools to ultrasound for the differentiation of ovarian from non-ovarian pelvic masses. (PMID:36928256)
• Pretreatment controlling nutritional status (CONUT) score and carcinoembryonic antigen level provide tumor progression and prognostic information in gastric cancer: A retrospective study. (PMID:38065858)

Cross-species orthologs

0 orthologs

Paralogs (24): CEACAM21 (ENSG00000007129), CEACAM7 (ENSG00000007306), CEACAM1 (ENSG00000079385), CEACAM6 (ENSG00000086548), CEACAM4 (ENSG00000105352), CEACAM5 (ENSG00000105388), PSG8 (ENSG00000124467), CEACAM8 (ENSG00000124469), HEPACAM (ENSG00000165478), PSG6 (ENSG00000170848), 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 CEACAM3 — P40198 (reviewed: P40198)

Alternative names: Carcinoembryonic antigen CGM1, Carcinoembryonic antigen-related cell adhesion molecule 3

All UniProt accessions (3): B7Z5B4, P40198, M0QXR5

UniProt curated annotations — full annotation on UniProt →

Function. Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis.

Subunit / interactions. Interacts with S100A9/calprotectin. This interaction is calcium-dependent, but independent of CEACAM3 phosphorylation.

Subcellular location. Membrane.

Tissue specificity. CGM1a, the predominant CGM1 transcript, is granulocyte-specific. Not detected out of the granulocytic lineage, such as monocytes, lymphocytes, spleen, testis, colon, brain, liver, pancreas, thymus, ovary, placenta, skeletal muscle, prostate, small intestine, heart, lung and kidney.

Post-translational modifications. Tyrosine-phosphorylated in response to microbial binding. Tyr-230 and Tyr-241 are both required for phosphorylation to be detected.

Domain organisation. The cytosolic domain is involved in S100A9 interaction.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (3)

UniProt ID	Names	Canonical?
P40198-1	1, CGM1A	yes
P40198-2	2, CGM1B
P40198-3	3, CGM1C

RefSeq proteins (2): NP_001264092, NP_001806* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
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

UniProt features (32 total): strand 9, sequence conflict 5, splice variant 2, mutagenesis site 2, topological domain 2, helix 2, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, turn 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6AVZ	X-RAY DIFFRACTION	2.05
6AW1	X-RAY DIFFRACTION	2.1
6AW0	X-RAY DIFFRACTION	2.43
6AW3	X-RAY DIFFRACTION	2.66

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P40198-F1	78.52	0.53

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 104, 111

Mutagenesis-validated functional residues (2):

Position	Phenotype
230	loss of phosphorylation and 30% reduction in bacterial uptake. more than 60% reduction in bacterial uptake and loss of r
241	loss of phosphorylation and 30% reduction in bacterial uptake. more than 60% reduction in bacterial uptake and loss of r

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-6798695	Neutrophil degranulation
R-HSA-109582	Hemostasis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 154 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, MODULE_45, GOCC_CELL_SURFACE, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_379, MODULE_88, MORF_PDPK1, MODULE_242, MODULE_11, MODULE_38, REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL, SHEN_SMARCA2_TARGETS_DN, GOCC_SECRETORY_VESICLE, MODULE_104

GO Biological Process (2): regulation of immune system process (GO:0002682), signal transduction (GO:0007165)

GO Molecular Function (2): protein tyrosine kinase binding (GO:1990782), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), cell surface (GO:0009986), specific granule membrane (GO:0035579), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
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	2
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
protein kinase binding	1
binding	1
membrane	1
cell periphery	1
secretory granule membrane	1
specific granule	1

Protein interactions and networks

STRING

1238 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEACAM3	ERV3-1	Q14264	674
CEACAM3	ERVFRD-1	P60508	673
CEACAM3	SYK	P43405	598
CEACAM3	CYTH4	Q9UIA0	585
CEACAM3	A0A096LNM5	A0A096LNM5	549
CEACAM3	CEACAM20	Q6UY09	542
CEACAM3	VAV1	P15498	523
CEACAM3	ERVW-1	Q9UQF0	479
CEACAM3	CD55	P08174	474
CEACAM3	CYP2A7	P20853	463
CEACAM3	CD79A	P11912	459
CEACAM3	CYP2A13	Q16696	459
CEACAM3	CEACAM6	P40199	431
CEACAM3	SIGLEC14	Q08ET2	426
CEACAM3	CEACAM1	P13688	417

IntAct

18 interactions, top by confidence:

A	B	Type	Score
CEACAM3	PMP22	psi-mi:“MI:0915”(physical association)	0.560
CEACAM3	CNIH3	psi-mi:“MI:0915”(physical association)	0.560
CEACAM3	NINJ1	psi-mi:“MI:0915”(physical association)	0.560
CEACAM3	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
opaH	CEACAM3	psi-mi:“MI:0407”(direct interaction)	0.560
opaD	CEACAM3	psi-mi:“MI:0407”(direct interaction)	0.560
CEACAM3	opaH	psi-mi:“MI:0407”(direct interaction)	0.560
CEACAM3	opaD	psi-mi:“MI:0407”(direct interaction)	0.560
CEACAM3	CEACAM3	psi-mi:“MI:0407”(direct interaction)	0.440
PMP22	CEACAM3	psi-mi:“MI:0915”(physical association)	0.000
CNIH3	CEACAM3	psi-mi:“MI:0915”(physical association)	0.000
NINJ1	CEACAM3	psi-mi:“MI:0915”(physical association)	0.000
NINJ2	CEACAM3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): CEACAM3 (Two-hybrid), CEACAM3 (Two-hybrid), CEACAM3 (Two-hybrid), NINJ2 (Two-hybrid)

ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9

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, Q0E9H9, Q6UY09, A8MTB9, A0A140LHF2, Q8BFR2, Q8N475, Q9PWR4, P35329, Q4VAH7, Q7TPB4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PTPRJ	“down-regulates activity”	CEACAM3	dephosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	8
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

1031 predictions. Top by Δscore:

Variant	Effect	Δscore
19:41808927:G:GT	donor_gain	1.0000
19:41808928:A:T	donor_gain	1.0000
19:41797672:G:GT	donor_gain	0.9900
19:41797946:ACCG:A	donor_loss	0.9900
19:41797947:CC:C	donor_gain	0.9900
19:41797947:CCGT:C	donor_loss	0.9900
19:41797948:CGTGA:C	donor_loss	0.9900
19:41797949:G:GG	donor_gain	0.9900
19:41797949:GT:G	donor_loss	0.9900
19:41797950:TGA:T	donor_loss	0.9900
19:41797951:G:GC	donor_loss	0.9900
19:41797952:AG:A	donor_loss	0.9900
19:41807107:ACAGC:A	acceptor_gain	0.9900
19:41807109:A:AG	acceptor_gain	0.9900
19:41807109:AGC:A	acceptor_gain	0.9900
19:41807110:G:GG	acceptor_gain	0.9900
19:41807110:GCG:G	acceptor_gain	0.9900
19:41797953:G:C	donor_loss	0.9800
19:41807108:C:G	acceptor_gain	0.9800
19:41807110:GC:G	acceptor_gain	0.9800
19:41807110:GCGGA:G	acceptor_gain	0.9800
19:41807220:G:GG	donor_gain	0.9800
19:41807308:A:T	donor_gain	0.9800
19:41808929:AG:A	donor_loss	0.9800
19:41808930:GG:G	donor_loss	0.9800
19:41808932:T:C	donor_loss	0.9800
19:41809963:A:AG	acceptor_gain	0.9800
19:41809964:G:GG	acceptor_gain	0.9800
19:41810831:GAT:G	acceptor_gain	0.9800
19:41797587:A:AG	acceptor_gain	0.9700

AlphaMissense

1611 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:41797723:T:A	W67R	0.969
19:41797723:T:C	W67R	0.969
19:41797725:G:C	W67C	0.964
19:41797725:G:T	W67C	0.964
19:41797844:T:C	L107P	0.958
19:41797817:G:C	R98P	0.951
19:41797850:T:C	I109T	0.939
19:41797840:T:C	S106P	0.938
19:41797882:T:G	Y120D	0.930
19:41797937:T:C	F138S	0.917
19:41797924:G:C	A134P	0.915
19:41797889:T:C	L122P	0.913
19:41797871:A:C	D116A	0.907
19:41797847:T:C	L108P	0.906
19:41797821:G:C	E99D	0.901
19:41797821:G:T	E99D	0.901
19:41797871:A:T	D116V	0.901
19:41797717:T:G	Y65D	0.900
19:41797731:A:C	K69N	0.900
19:41797731:A:T	K69N	0.900
19:41797936:T:C	F138L	0.900
19:41797938:C:A	F138L	0.900
19:41797938:C:G	F138L	0.900
19:41797726:T:G	Y68D	0.896
19:41797850:T:G	I109S	0.891
19:41797682:T:C	L53P	0.889
19:41797724:G:C	W67S	0.883
19:41797844:T:A	L107Q	0.875
19:41797872:C:A	D116E	0.872
19:41797872:C:G	D116E	0.872

dbSNP variants (sampled 300 via entrez): RS1000242910 (19:41803853 G>A), RS1000258614 (19:41797884 C>T), RS1000375077 (19:41798091 G>A,C), RS1000525270 (19:41802390 C>A), RS1000710039 (19:41796797 G>A,C), RS1001011704 (19:41808560 G>A,T), RS1001369162 (19:41799558 T>A), RS1001688420 (19:41810880 G>C), RS1001753358 (19:41805011 C>A,T), RS1003169579 (19:41806378 T>A,C), RS1003585089 (19:41806658 C>A), RS1003634949 (19:41794628 T>C), RS1004261770 (19:41806624 T>C,G), RS1004314316 (19:41806335 C>A,G,T), RS1004598436 (19:41805270 T>C)

Disease associations

OMIM: gene MIM:609142 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
cystic fibrosis	Supportive	Autosomal recessive

Mondo (1): cystic fibrosis (MONDO:0009061)

Orphanet (0):

HPO phenotypes

35 total (30 of 35 shown, HPO-id order):

HPO	Term
HP:0000246	Sinusitis
HP:0000365	Hearing impairment
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000787	Nephrolithiasis
HP:0000938	Osteopenia
HP:0000939	Osteoporosis
HP:0001392	Abnormality of the liver
HP:0001394	Cirrhosis
HP:0001508	Failure to thrive
HP:0001738	Exocrine pancreatic insufficiency
HP:0002020	Gastroesophageal reflux
HP:0002024	Malabsorption
HP:0002035	Rectal prolapse
HP:0002099	Asthma
HP:0002105	Hemoptysis
HP:0002107	Pneumothorax
HP:0002110	Bronchiectasis
HP:0002205	Recurrent respiratory infections
HP:0002570	Steatorrhea
HP:0002724	Recurrent Aspergillus infections
HP:0002726	Recurrent Staphylococcus aureus infections
HP:0002783	Recurrent lower respiratory tract infections
HP:0002842	Recurrent Burkholderia cepacia infections
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003251	Male infertility
HP:0004401	Meconium ileus
HP:0005376	Recurrent Haemophilus influenzae infections
HP:0006536	Airway obstruction
HP:0012236	Elevated sweat chloride

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003550	Cystic Fibrosis	C06.689.202; C08.381.187; C16.320.190; C16.614.213

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	3
bisphenol A	increases expression, affects reaction, decreases expression	2
triphenyl phosphate	affects expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Acetaminophen	increases expression	1
Aldehydes	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Carmustine	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	affects reaction, decreases expression	1
Methotrexate	decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
1-Naphthylamine	affects response to substance	1
Aflatoxin B1	increases methylation	1
Copper Sulfate	decreases 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_C0EI	HEK293-CEACAM3-Fc	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00157690	PHASE4	COMPLETED	Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients
NCT00208078	PHASE4	TERMINATED	Effect of Non-Invasive Ventilation in Cystic Fibrosis Patient With Chronic Respiratory Failure.
NCT00244270	PHASE4	COMPLETED	Cystic Fibrosis and Totally Implantable Vascular Access Devices
NCT00333385	PHASE4	TERMINATED	Continuous Versus Short Infusions of Ceftazidime in Cystic Fibrosis
NCT00411736	PHASE4	COMPLETED	Scandinavian Cystic Fibrosis Azithromycin Study
NCT00418470	PHASE4	TERMINATED	Prolonging the Duration of Peripheral Venous Catheters in Cystic Fibrosis People
NCT00431964	PHASE4	COMPLETED	Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa
NCT00434278	PHASE4	TERMINATED	A Trial of Pulmozyme Withdrawal on Exercise Tolerance in Cystic Fibrosis Subjects With Severe Lung Disease (TOPIC)
NCT00483769	PHASE4	COMPLETED	One Year Glargine Treatment in CFRD Children and Adolescents
NCT00528190	PHASE4	COMPLETED	Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis
NCT00557089	PHASE4	COMPLETED	The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis
NCT00572975	PHASE4	COMPLETED	Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea
NCT00680316	PHASE4	TERMINATED	A Study of Pulmozyme® (Dornase Alpha) in 3- to 5-Year-Old Patients With Cystic Fibrosis
NCT00685035	PHASE4	COMPLETED	Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings
NCT00744250	PHASE4	TERMINATED	Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control
NCT00787917	PHASE4	TERMINATED	An Exploratory Study to Assess Multiple Doses of Omalizumab in Patients With Cystic Fibrosis Complicated by Acute Bronchopulmonary Aspergillosis (ABPA)
NCT00843817	PHASE4	COMPLETED	RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum
NCT00890370	PHASE4	COMPLETED	Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis?
NCT00996424	PHASE4	TERMINATED	The Effect of Inhaled N-Acetylcysteine Compared to Normal Saline on Sputum Rheology and Lung Function
NCT01044719	PHASE4	UNKNOWN	Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis
NCT01100606	PHASE4	COMPLETED	A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age
NCT01131507	PHASE4	COMPLETED	PR-018: An Open-Label, Safety Extension of Study PR-011
NCT01207245	PHASE4	COMPLETED	Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis
NCT01323101	PHASE4	COMPLETED	Doxycycline Effects on Inflammation in Cystic Fibrosis
NCT01327703	PHASE4	COMPLETED	Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency
NCT01377792	PHASE4	COMPLETED	Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis
NCT01400750	PHASE4	COMPLETED	Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis
NCT01429259	PHASE4	COMPLETED	Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children
NCT01608555	PHASE4	COMPLETED	Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis
NCT01667094	PHASE4	UNKNOWN	A Study Comparing Continuous Infusion Antibiotics to Standard Treatment for Lung Infections in Cystic Fibrosis
NCT01694069	PHASE4	TERMINATED	Continuous Infusion Piperacillin-tazobactam for the Treatment of Cystic Fibrosis
NCT01702415	PHASE4	WITHDRAWN	Zoledronic Acid in Cystic Fibrosis
NCT01712334	PHASE4	COMPLETED	A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis
NCT01737983	PHASE4	COMPLETED	Effect of Lactobacillus Reuteri in Cystic Fibrosis
NCT01844778	PHASE4	COMPLETED	Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI)
NCT01880346	PHASE4	COMPLETED	Comparison of Absorption of Vitamin D in Cystic Fibrosis
NCT01882400	PHASE4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT01937325	PHASE4	UNKNOWN	CPET in CF Patients With One G551D Mutation Taking VX770
NCT02015663	PHASE4	TERMINATED	Tobramycin Inhalation Powder (TIP) Administered Once Daily Continuously Versus TIP Administered BID in 28 Day on / 28 Day Off Cycles
NCT02048592	PHASE4	UNKNOWN	Impact of Immunonutrition on the Patients With Cystic Fibrosis