PSG11

Summary

PSG11 (pregnancy specific beta-1-glycoprotein 11, HGNC:9516) is a protein-coding gene on chromosome 19q13.31, encoding Pregnancy-specific beta-1-glycoprotein 11 (Q9UQ72).

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).

Source: NCBI Gene 5680 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_002785

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9516
Approved symbol	PSG11
Name	pregnancy specific beta-1-glycoprotein 11
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC22484
Ensembl gene	ENSG00000243130
Ensembl biotype	protein_coding
OMIM	176401
Entrez	5680

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 retained_intron, 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000306322, ENST00000320078, ENST00000403486, ENST00000488205, ENST00000593983, ENST00000593994, ENST00000594655, ENST00000595138, ENST00000595312, ENST00000597093, ENST00000598133, ENST00000599245, ENST00000599976

RefSeq mRNA: 3 — MANE Select: NM_002785 NM_001113410, NM_002785, NM_203287

CCDS: CCDS12614, CCDS12615

Canonical transcript exons

ENST00000320078 — 6 exons

Exon	Start	End
ENSE00001510264	43007656	43008042
ENSE00002473514	43015116	43015370
ENSE00003199583	43026309	43026469
ENSE00003541321	43018770	43019048
ENSE00003639291	43024691	43025056
ENSE00003643700	43009958	43010041

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 87.99.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5091 / max 557.2944, expressed in 16 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181232	0.3640	10
181233	0.1300	7
181231	0.0151	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	87.99	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.41	gold quality
placenta	UBERON:0001987	86.81	gold quality
rectum	UBERON:0001052	82.00	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.06	gold quality
mucosa of transverse colon	UBERON:0004991	75.66	gold quality
Brodmann (1909) area 10	UBERON:0013541	70.32	gold quality
paraflocculus	UBERON:0005351	69.13	gold quality
frontal pole	UBERON:0002795	69.09	gold quality
lower esophagus mucosa	UBERON:0035834	68.97	gold quality
middle frontal gyrus	UBERON:0002702	68.59	gold quality
transverse colon	UBERON:0001157	67.65	gold quality
esophagus mucosa	UBERON:0002469	66.35	gold quality
cerebellar vermis	UBERON:0004720	65.80	silver quality
diaphragm	UBERON:0001103	64.54	gold quality
adrenal tissue	UBERON:0018303	62.05	gold quality
ileal mucosa	UBERON:0000331	61.37	silver quality
sperm	CL:0000019	60.68	gold quality
male germ cell	CL:0000015	60.01	gold quality
oocyte	CL:0000023	59.54	gold quality
secondary oocyte	CL:0000655	58.92	gold quality
decidua	UBERON:0002450	56.93	gold quality
lower lobe of lung	UBERON:0008949	56.19	silver quality
tibialis anterior	UBERON:0001385	55.47	silver quality
pancreatic ductal cell	CL:0002079	55.37	silver quality
mucosa of paranasal sinus	UBERON:0005030	54.87	gold quality
nasal cavity epithelium	UBERON:0005384	54.53	gold quality
myocardium	UBERON:0002349	54.51	gold quality
thymus	UBERON:0002370	54.24	gold quality
quadriceps femoris	UBERON:0001377	53.97	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	6.34
E-ANND-3	yes	5.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting PSG11, 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-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-627-3P	99.90	71.42	3316
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-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-543	99.52	69.03	2595
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6894-5P	98.70	63.78	809
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-643	97.35	67.91	805
HSA-MIR-4540	96.90	67.46	473

Literature-anchored findings (GeneRIF, showing 1)

• recurrent deletions that may confer risk for preeclampsia include a potentially functionally important copy-number deletion in the PSG11 gene. (PMID:22748001)

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), PSG2 (ENSG00000242221), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Pregnancy-specific beta-1-glycoprotein 11 — Q9UQ72 (reviewed: Q9UQ72)

Alternative names: Pregnancy-specific beta-1-glycoprotein 13

All UniProt accessions (3): Q9UQ72, M0R276, M0R2P9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UQ72-1	1	yes
Q9UQ72-2	2

RefSeq proteins (3): NP_001106881, NP_002776, NP_976032 (=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, domain 3, glycosylation site 3, disulfide bond 2, signal peptide 1, chain 1, splice variant 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UQ72-F1	88.18	0.80

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 (3): 61, 104, 111

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 46 (showing top): LI_CISPLATIN_RESISTANCE_DN, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, BROWNE_HCMV_INFECTION_48HR_DN, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, OUELLET_CULTURED_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, GRUETZMANN_PANCREATIC_CANCER_UP, REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL, PEDRIOLI_MIR31_TARGETS_UP, PGF_UP.V1_DN, ZNF22_TARGET_GENES, ZNF362_TARGET_GENES, MIR4262, MIR4659A_3P_MIR4659B_3P

GO Biological Process (2): heterophilic cell-cell adhesion (GO:0007157), female pregnancy (GO:0007565)

GO Molecular Function (1): protein binding (GO:0005515)

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
binding	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PSG11	CSH1	P01243	791
PSG11	CSH1	P01243	789
PSG11	PAPPA	Q13219	663
PSG11	AFP	P02771	507
PSG11	ALPP	P05187	500
PSG11	LGALS1	P09382	447
PSG11	C19orf53	Q9UNZ5	420
PSG11	ZNF574	Q6ZN55	411
PSG11	TFPI2	P48307	395
PSG11	CD9	P21926	393
PSG11	ANG	P03950	368
PSG11	ISM2	Q6H9L7	362
PSG11	ZNF526	Q8TF50	349
PSG11	KRTAP21-1	Q3LI58	324
PSG11	CEACAM19	Q7Z692	318

IntAct

6 interactions, top by confidence:

A	B	Type	Score
DNAJB9	PSG11	psi-mi:“MI:0915”(physical association)	0.400
PSG11	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
PSG11	GAPDHS	psi-mi:“MI:0914”(association)	0.350
PSG11	ZSWIM8	psi-mi:“MI:0914”(association)	0.350

BioGRID (64): GAPDHS (Affinity Capture-MS), PSG4 (Affinity Capture-MS), PSG11 (Two-hybrid), PSG11 (Two-hybrid), GAPDHS (Affinity Capture-MS), PSG4 (Affinity Capture-MS), PSG11 (Two-hybrid), PSG4 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), RAD17 (Affinity Capture-MS), ARMC4 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), DSC2 (Affinity Capture-MS), TRIP12 (Affinity Capture-MS)

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, A1L1A6, B2RTN2, Q0E9H9, Q6UY09, A8MTB9, A0A140LHF2, Q8BFR2, Q8N475, Q9PWR4, P35329

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

857 predictions. Top by Δscore:

Variant	Effect	Δscore
19:43026303:CCTCA:C	donor_loss	0.9900
19:43026304:CTCAC:C	donor_loss	0.9900
19:43026305:TCA:T	donor_loss	0.9900
19:43026306:CACCT:C	donor_loss	0.9900
19:43026308:C:CG	donor_loss	0.9900
19:43015249:C:A	donor_gain	0.9800
19:43015367:CCAT:C	acceptor_gain	0.9800
19:43015368:CATC:C	acceptor_gain	0.9800
19:43019049:C:CC	acceptor_gain	0.9800
19:43008044:T:C	acceptor_gain	0.9700
19:43018768:A:AC	donor_gain	0.9700
19:43018769:C:CC	donor_gain	0.9700
19:43026327:T:TA	donor_gain	0.9700
19:43008043:C:CC	acceptor_gain	0.9600
19:43019047:CA:C	acceptor_gain	0.9600
19:43024689:A:AC	donor_gain	0.9600
19:43024690:C:CC	donor_gain	0.9600
19:43019044:CTCCA:C	acceptor_gain	0.9500
19:43019046:CCA:C	acceptor_gain	0.9500
19:43019047:CAC:C	acceptor_gain	0.9500
19:43019051:G:C	acceptor_gain	0.9500
19:43008107:CTTT:C	acceptor_gain	0.9400
19:43015248:T:TA	donor_gain	0.9400
19:43026429:T:TA	donor_gain	0.9400
19:43018769:CGGAG:C	donor_gain	0.9300
19:43015368:CAT:C	acceptor_gain	0.9200
19:43008040:CTC:C	acceptor_gain	0.9100
19:43010047:A:AC	acceptor_gain	0.9100
19:43010047:A:C	acceptor_gain	0.9100
19:43018769:CGGA:C	donor_gain	0.9100

AlphaMissense

2161 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:43015261:C:A	W273C	0.976
19:43015261:C:G	W273C	0.976
19:43015263:A:G	W273R	0.968
19:43015263:A:T	W273R	0.968
19:43018829:C:G	C217S	0.958
19:43018830:A:T	C217S	0.958
19:43018939:C:A	W180C	0.957
19:43018939:C:G	W180C	0.957
19:43018795:A:C	S228R	0.956
19:43018795:A:T	S228R	0.956
19:43018797:T:G	S228R	0.956
19:43024922:A:G	W67R	0.949
19:43024922:A:T	W67R	0.949
19:43015178:C:G	C301S	0.948
19:43015179:A:T	C301S	0.948
19:43015165:G:C	N305K	0.944
19:43015165:G:T	N305K	0.944
19:43015299:A:G	C261R	0.942
19:43018941:A:G	W180R	0.939
19:43018941:A:T	W180R	0.939
19:43015185:A:C	Y299D	0.933
19:43018973:C:G	C169S	0.933
19:43018974:A:T	C169S	0.933
19:43015298:C:G	C261S	0.931
19:43015299:A:T	C261S	0.931
19:43015179:A:G	C301R	0.929
19:43018830:A:G	C217R	0.927
19:43024801:A:G	L107P	0.925
19:43015177:G:C	C301W	0.923
19:43015297:G:C	C261W	0.923

dbSNP variants (sampled 300 via entrez): RS1000394830 (19:43008269 C>G,T), RS1000924330 (19:43011038 A>G), RS1000949106 (19:43021842 T>C,G), RS1000980262 (19:43022042 G>A), RS1001242571 (19:43025226 GTA>G), RS1001293095 (19:43022230 G>A,T), RS1001517155 (19:43018673 C>A,T), RS1001635793 (19:43012594 A>G), RS1001743246 (19:43027882 T>C), RS1001825764 (19:43007273 T>C), RS1001856912 (19:43007497 T>A,G), RS1002003197 (19:43012264 C>T), RS1002059193 (19:43027483 G>C), RS1002417266 (19:43015695 A>G), RS1002518090 (19:43009480 G>C)

Disease associations

OMIM: gene MIM:176401 | 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

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation	2
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
Amphotericin B	increases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects binding, increases expression	1
Disulfiram	affects binding, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
beta-Naphthoflavone	decreases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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