PSG2

Summary

PSG2 (pregnancy specific beta-1-glycoprotein 2, HGNC:9519) is a protein-coding gene on chromosome 19q13.31, encoding Pregnancy-specific beta-1-glycoprotein 2 (P11465).

The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).

Source: NCBI Gene 5670 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_031246

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9519
Approved symbol	PSG2
Name	pregnancy specific beta-1-glycoprotein 2
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Aliases	PSGGB, PSG1, CEA
Ensembl gene	ENSG00000242221
Ensembl biotype	protein_coding
OMIM	176391
Entrez	5670

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000329509, ENST00000406487, ENST00000491995, ENST00000593482

RefSeq mRNA: 1 — MANE Select: NM_031246 NM_031246

CCDS: CCDS12616

Canonical transcript exons

ENST00000406487 — 6 exons

Exon	Start	End
ENSE00002455455	43066517	43066600
ENSE00002494589	43071700	43071954
ENSE00002507838	43075354	43075632
ENSE00002508809	43080881	43081246
ENSE00003447737	43064209	43064601
ENSE00003536548	43082506	43082701

Expression profiles

Bgee: expression breadth ubiquitous, 109 present calls, max score 96.81.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1988 / max 138.0336, expressed in 18 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181236	0.1571	15
208848	0.0187	5
181235	0.0151	5
181234	0.0080	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	96.81	gold quality
decidua	UBERON:0002450	92.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.59	gold quality
adrenal tissue	UBERON:0018303	70.53	gold quality
stromal cell of endometrium	CL:0002255	70.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	62.68	gold quality
pancreatic ductal cell	CL:0002079	61.47	silver quality
diaphragm	UBERON:0001103	60.88	gold quality
monocyte	CL:0000576	60.87	gold quality
mononuclear cell	CL:0000842	60.80	gold quality
leukocyte	CL:0000738	60.78	gold quality
sural nerve	UBERON:0015488	59.36	gold quality
tibialis anterior	UBERON:0001385	56.13	silver quality
cortex of kidney	UBERON:0001225	55.05	gold quality
primary visual cortex	UBERON:0002436	54.20	gold quality
hair follicle	UBERON:0002073	52.76	gold quality
epithelial cell of pancreas	CL:0000083	51.45	gold quality
lymph node	UBERON:0000029	51.37	gold quality
occipital lobe	UBERON:0002021	50.71	gold quality
smooth muscle tissue	UBERON:0001135	50.64	gold quality
islet of Langerhans	UBERON:0000006	50.53	gold quality
muscle tissue	UBERON:0002385	50.17	gold quality
myocardium	UBERON:0002349	49.89	silver quality
deltoid	UBERON:0001476	49.64	gold quality
Brodmann (1909) area 9	UBERON:0013540	49.64	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
ileal mucosa	UBERON:0000331	49.20	silver quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
quadriceps femoris	UBERON:0001377	49.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-5	yes	631.01
E-MTAB-6678	yes	17.31
E-ANND-3	yes	3.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting PSG2, 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-6758-5P	100.00	66.21	1470
HSA-MIR-4282	99.99	75.36	6408
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-1250-3P	99.96	70.04	4038
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-496	98.66	69.80	931
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-4540	96.90	67.46	473
HSA-MIR-1266-3P	96.23	66.36	778
HSA-MIR-4330	95.44	66.39	993

Literature-anchored findings (GeneRIF, showing 3)

• This genetic cancer vaccineis highly immunogenic and can break tolerance to CEA tumor antigen in CEA transgenic mice. (PMID:15906358)
• the authors evaluated the prognostic significance of the CEA and CA-19.9 serum tumor markers in advanced (unresectable) pancreatic cancer (PMID:20071292)
• Integrating the dual-signal amplification strategy, a novel 3D origami electrochemical immunodevice for simultaneous detecting carcinoembryonic antigen (CEA) and cancer antigen 125 (CA125) (PMID:25048447)

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), CEACAM3 (ENSG00000170956), PSG9 (ENSG00000183668), CEACAM19 (ENSG00000186567), HEPACAM2 (ENSG00000188175), PSG5 (ENSG00000204941), CEACAM18 (ENSG00000213822), CEACAM16 (ENSG00000213892), VSTM5 (ENSG00000214376), PSG3 (ENSG00000221826), PSG7 (ENSG00000221878), PSG1 (ENSG00000231924), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Pregnancy-specific beta-1-glycoprotein 2 — P11465 (reviewed: P11465)

Alternative names: Pregnancy-specific beta-1 glycoprotein E

All UniProt accessions (2): P11465, A0A0A0MR77

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

RefSeq proteins (1): NP_112536* (*=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 (16 total): sequence variant 4, glycosylation site 4, domain 3, disulfide bond 2, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11465-F1	88.24	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.

Disulfide bonds (2): 261–301, 169–217

Glycosylation sites (4): 61, 104, 111, 199

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall

MSigDB gene sets: 135 (showing top): MORF_ITGA2, KOBAYASHI_EGFR_SIGNALING_24HR_UP, MORF_FLT1, CAR_TNFRSF25, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, MORF_MSH3, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, MORF_BRCA1, KYNG_DNA_DAMAGE_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN, MORF_ESR1, MORF_RAD51L3, CHANG_IMMORTALIZED_BY_HPV31_DN, GOBP_CELL_CELL_ADHESION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP

GO Biological Process (3): heterophilic cell-cell adhesion (GO:0007157), female pregnancy (GO:0007565), cell migration (GO:0016477)

GO Molecular Function (0):

GO Cellular Component (2): extracellular region (GO:0005576), cell surface (GO:0009986)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
cell-cell adhesion	1
multi-organism reproductive process	1
multi-multicellular organism process	1
cell motility	1

Protein interactions and networks

STRING

940 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSG2	CSH1	P01243	730
PSG2	CSH1	P01243	729
PSG2	PAPPA	Q13219	609
PSG2	SELP	P16109	589
PSG2	TPST1	O60507	480
PSG2	SDC1	P18827	464
PSG2	ALPP	P05187	455
PSG2	TPST2	O60704	447
PSG2	PSEN1	P49768	445
PSG2	CEBPB	P17676	440
PSG2	AFP	P02771	434
PSG2	PIK3R4	Q99570	431
PSG2	INS	P01308	420
PSG2	H2BC12	O60814	406
PSG2	A0A096LNM5	A0A096LNM5	405

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SMAD4	PSG2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (2): PSG2 (Affinity Capture-MS), PSG2 (Two-hybrid)

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

953 predictions. Top by Δscore:

Variant	Effect	Δscore
19:43075352:A:AC	donor_gain	0.9800
19:43075353:C:CC	donor_gain	0.9800
19:43075633:C:CC	acceptor_gain	0.9800
19:43082500:CCTCA:C	donor_loss	0.9700
19:43082501:CTCA:C	donor_loss	0.9700
19:43082502:TCAC:T	donor_loss	0.9700
19:43082503:CACCT:C	donor_loss	0.9700
19:43082504:A:AT	donor_loss	0.9700
19:43082505:CC:C	donor_loss	0.9700
19:43082626:T:TA	donor_gain	0.9700
19:43066606:A:C	acceptor_gain	0.9600
19:43071833:C:A	donor_gain	0.9600
19:43082174:A:AC	donor_gain	0.9600
19:43082175:C:CC	donor_gain	0.9600
19:43075631:CA:C	acceptor_gain	0.9500
19:43080879:A:AC	donor_gain	0.9500
19:43080880:C:CC	donor_gain	0.9500
19:43082524:T:TA	donor_gain	0.9500
19:43075628:CTCCA:C	acceptor_gain	0.9400
19:43075630:CCA:C	acceptor_gain	0.9400
19:43075631:CACTG:C	acceptor_gain	0.9400
19:43075635:G:C	acceptor_gain	0.9300
19:43064603:T:C	acceptor_gain	0.9200
19:43066606:A:AC	acceptor_gain	0.9200
19:43071832:T:TA	donor_gain	0.9200
19:43081024:C:CC	acceptor_gain	0.9200
19:43081023:A:AC	acceptor_gain	0.8900
19:43066601:C:CC	acceptor_gain	0.8800
19:43075510:G:T	donor_gain	0.8700
19:43075629:TCCA:T	acceptor_gain	0.8700

AlphaMissense

2154 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:43071845:C:A	W273C	0.972
19:43071845:C:G	W273C	0.972
19:43075523:C:A	W180C	0.968
19:43075523:C:G	W180C	0.968
19:43075525:A:G	W180R	0.965
19:43075525:A:T	W180R	0.965
19:43071847:A:G	W273R	0.962
19:43071847:A:T	W273R	0.962
19:43081112:A:G	W67R	0.953
19:43081112:A:T	W67R	0.953
19:43075379:A:C	S228R	0.951
19:43075379:A:T	S228R	0.951
19:43075381:T:G	S228R	0.951
19:43075413:C:G	C217S	0.951
19:43075414:A:T	C217S	0.951
19:43071762:C:G	C301S	0.946
19:43071763:A:T	C301S	0.946
19:43071763:A:G	C301R	0.936
19:43081110:C:A	W67C	0.931
19:43081110:C:G	W67C	0.931
19:43080991:A:G	L107P	0.922
19:43071761:G:C	C301W	0.919
19:43075414:A:G	C217R	0.912
19:43071769:A:C	Y299D	0.910
19:43071883:A:G	C261R	0.907
19:43075557:C:G	C169S	0.905
19:43075558:A:T	C169S	0.905
19:43075420:A:C	Y215D	0.904
19:43071762:C:T	C301Y	0.901
19:43071881:G:C	C261W	0.896

dbSNP variants (sampled 300 via entrez): RS1000165890 (19:43063851 C>T), RS1000353513 (19:43083368 G>A,C), RS1000730808 (19:43083481 G>T), RS1000930655 (19:43070403 C>G,T), RS1000941378 (19:43070151 C>A,T), RS1001046953 (19:43066339 G>A), RS1001135884 (19:43076994 C>T), RS1001188296 (19:43076851 G>A), RS1001476528 (19:43070460 A>G), RS1001654546 (19:43073878 C>A,T), RS1001848143 (19:43083017 G>A,C), RS1001965632 (19:43083207 G>A), RS1002042055 (19:43076141 C>T), RS1002280375 (19:43066875 CTA>C), RS1002608817 (19:43084173 G>C)

Disease associations

OMIM: gene MIM:176391 | 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenate	increases abundance, increases expression	1
potassium chromate(VI)	increases expression	1
monomethylarsonous acid	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Chromium	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation, increases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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