PSG7

Summary

PSG7 (pregnancy specific beta-1-glycoprotein 7, HGNC:9524) is a protein-coding gene on chromosome 19q13.31, encoding Pregnancy-specific beta-1-glycoprotein 7 (Q13046).

This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5676 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 161 total
• MANE Select transcript: NM_002783

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9524
Approved symbol	PSG7
Name	pregnancy specific beta-1-glycoprotein 7
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000221878
Ensembl biotype	protein_coding
OMIM	176396
Entrez	5676

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000406070, ENST00000446844, ENST00000471557, ENST00000599226, ENST00000599620, ENST00000623675

RefSeq mRNA: 2 — MANE Select: NM_002783 NM_001206650, NM_002783

CCDS: CCDS77310

Canonical transcript exons

ENST00000406070 — 6 exons

Exon	Start	End
ENSE00001805859	42924132	42924824
ENSE00002521541	42937013	42937207
ENSE00002988630	42929442	42929720
ENSE00003075050	42935404	42935769
ENSE00003104833	42925773	42926027
ENSE00003209821	42926438	42926716

Expression profiles

Bgee: expression breadth broad, 50 present calls, max score 89.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0123 / max 12.6853, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181228	0.0088	4
181229	0.0035	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	89.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.42	gold quality
diaphragm	UBERON:0001103	71.49	gold quality
upper leg skin	UBERON:0004262	66.41	silver quality
hair follicle	UBERON:0002073	65.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.78	gold quality
upper arm skin	UBERON:0004263	64.29	gold quality
epithelium of nasopharynx	UBERON:0001951	63.96	gold quality
olfactory bulb	UBERON:0002264	63.52	gold quality
amniotic fluid	UBERON:0000173	63.46	silver quality
type B pancreatic cell	CL:0000169	63.20	gold quality
adrenal tissue	UBERON:0018303	62.08	gold quality
orbitofrontal cortex	UBERON:0004167	58.94	gold quality
nasal cavity epithelium	UBERON:0005384	58.18	gold quality
quadriceps femoris	UBERON:0001377	57.64	gold quality
pancreatic ductal cell	CL:0002079	57.48	silver quality
vastus lateralis	UBERON:0001379	57.28	gold quality
mucosa of paranasal sinus	UBERON:0005030	56.40	gold quality
tendon of biceps brachii	UBERON:0008188	56.39	gold quality
germinal epithelium of ovary	UBERON:0001304	56.04	gold quality
vena cava	UBERON:0004087	54.19	gold quality
left ventricle myocardium	UBERON:0006566	54.05	gold quality
deltoid	UBERON:0001476	53.12	gold quality
epithelial cell of pancreas	CL:0000083	52.81	gold quality
epithelium of mammary gland	UBERON:0003244	52.49	gold quality
cerebellar vermis	UBERON:0004720	52.40	gold quality
mammary duct	UBERON:0001765	52.34	gold quality
tibialis anterior	UBERON:0001385	52.19	silver quality
endothelial cell	CL:0000115	51.85	gold quality
thymus	UBERON:0002370	51.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXF2

miRNA regulators (miRDB)

37 targeting PSG7, 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-7162-3P	99.89	68.16	1682
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-3158-3P	98.45	64.25	560
HSA-MIR-7852-3P	98.37	67.98	823
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499

Literature-anchored findings (GeneRIF, showing 1)

• PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia. (PMID:35322669)

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), PSG1 (ENSG00000231924), PSG2 (ENSG00000242221), PSG11 (ENSG00000243130), PSG4 (ENSG00000243137), CEACAM20 (ENSG00000273777)

Protein

Protein identifiers

Pregnancy-specific beta-1-glycoprotein 7 — Q13046 (reviewed: Q13046)

All UniProt accessions (3): Q13046, A0A087WT09, A0A096LNM5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the immunoglobulin superfamily. CEA family.

RefSeq proteins (2): NP_001193579, NP_002774* (*=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 (21 total): glycosylation site 7, domain 4, disulfide bond 3, sequence conflict 3, signal peptide 1, chain 1, sequence variant 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13046-F1	88.33	0.76

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 (3): 169–217, 262–310, 354–394

Glycosylation sites (7): 199, 209, 268, 303, 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: 71 (showing top): KOBAYASHI_EGFR_SIGNALING_24HR_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_45, GCM_PRKCG, MODULE_66, GCM_RING1, GNF2_KISS1, GOBP_MULTI_MULTICELLULAR_ORGANISM_PROCESS, MODULE_88, GNF2_CDKN1C, MODULE_18, MODULE_11, MODULE_60, GCM_CDH5, KAYO_AGING_MUSCLE_UP

GO Biological Process (1): female pregnancy (GO:0007565)

GO Molecular Function (0):

GO Cellular Component (1): extracellular region (GO:0005576)

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
multi-organism reproductive process	1
multi-multicellular organism process	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

9 interactions, top by confidence:

A	B	Type	Score
DCC	PSG7	psi-mi:“MI:0915”(physical association)	0.540
DSCAM	PSG7	psi-mi:“MI:0915”(physical association)	0.540
PSG7	DSCAM	psi-mi:“MI:0915”(physical association)	0.540
PSG7	DCC	psi-mi:“MI:0407”(direct interaction)	0.540
PSG7	DSCAM	psi-mi:“MI:0407”(direct interaction)	0.540
PSG7	CLEC4A	psi-mi:“MI:0915”(physical association)	0.400
PSG7	FGFR4	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): PSG7 (Negative Genetic)

ESM2 similar proteins: A0A0B4J2E0, D3ZQE1, E9QA28, O00478, O00481, O75019, O75871, P01733, P06731, P0C191, P11464, P11465, P13688, P16573, P31809, P31997, P40198, P40199, P59901, Q00887, Q00888, Q00889, Q13046, Q13410, Q14002, Q15238, Q16557, Q28110, Q2WEN9, Q3KPI0, Q3UKK2, Q61400, Q63111, Q6PI73, Q810J1, Q863H2, Q8C567, Q8MJZ2, Q8N149, Q8N6C8

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	140
Likely benign	19
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

696 predictions. Top by Δscore:

Variant	Effect	Δscore
19:42937087:C:CA	donor_gain	0.9900
19:42925906:C:A	donor_gain	0.9800
19:42929721:C:CC	acceptor_gain	0.9800
19:42937007:CCTCA:C	donor_loss	0.9800
19:42937008:CTCA:C	donor_loss	0.9800
19:42937009:TCAC:T	donor_loss	0.9800
19:42937010:CAC:C	donor_loss	0.9800
19:42937011:ACC:A	donor_loss	0.9800
19:42937012:C:CG	donor_loss	0.9800
19:42926717:C:CC	acceptor_gain	0.9700
19:42937133:T:TA	donor_gain	0.9700
19:42929719:CACTG:C	acceptor_gain	0.9600
19:42935402:A:AC	donor_gain	0.9600
19:42935403:C:CC	donor_gain	0.9600
19:42926715:CG:C	acceptor_gain	0.9500
19:42926719:G:C	acceptor_gain	0.9500
19:42929716:CTCCA:C	acceptor_gain	0.9500
19:42935770:C:CC	acceptor_gain	0.9500
19:42937031:T:A	donor_gain	0.9500
19:42929440:A:AC	donor_gain	0.9400
19:42929441:C:CC	donor_gain	0.9400
19:42929718:CCA:C	acceptor_gain	0.9400
19:42929719:CA:C	acceptor_gain	0.9400
19:42925905:T:TA	donor_gain	0.9300
19:42935082:A:AC	donor_gain	0.9200
19:42936975:T:TA	donor_gain	0.9200
19:42929723:G:C	acceptor_gain	0.9100
19:42926712:CTTCG:C	acceptor_gain	0.9000
19:42924707:A:C	donor_gain	0.8900
19:42929717:TCCA:T	acceptor_gain	0.8900

AlphaMissense

2701 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:42925920:A:G	W366R	0.958
19:42925920:A:T	W366R	0.958
19:42925918:C:A	W366C	0.957
19:42925918:C:G	W366C	0.957
19:42929467:A:C	S228R	0.957
19:42929467:A:T	S228R	0.957
19:42929469:T:G	S228R	0.957
19:42929611:C:A	W180C	0.957
19:42929611:C:G	W180C	0.957
19:42935635:A:G	W67R	0.951
19:42935635:A:T	W67R	0.951
19:42929613:A:G	W180R	0.949
19:42929613:A:T	W180R	0.949
19:42935514:A:G	L107P	0.946
19:42929501:C:G	C217S	0.940
19:42929502:A:T	C217S	0.940
19:42926497:C:G	C310S	0.939
19:42926498:A:T	C310S	0.939
19:42925835:C:G	C394S	0.929
19:42925836:A:T	C394S	0.929
19:42929646:A:G	C169R	0.924
19:42935518:A:G	S106P	0.924
19:42935633:C:A	W67C	0.923
19:42935633:C:G	W67C	0.923
19:42925822:G:C	N398K	0.921
19:42925822:G:T	N398K	0.921
19:42929502:A:G	C217R	0.921
19:42925842:A:C	Y392D	0.919
19:42925956:A:G	C354R	0.917
19:42929645:C:T	C169Y	0.916

dbSNP variants (sampled 300 via entrez): RS1000220653 (19:42930697 C>G), RS1000316294 (19:42935247 T>C), RS1000550192 (19:42934656 T>A), RS1000787733 (19:42938963 G>A), RS1000893412 (19:42931993 G>A), RS1001685776 (19:42926506 G>A,T), RS1001705635 (19:42929580 G>A,T), RS1001856427 (19:42931801 C>A,G,T), RS1002000685 (19:42931572 C>G), RS1002066676 (19:42932175 C>A,T), RS1002152212 (19:42928820 G>C,T), RS1002308708 (19:42934842 C>G,T), RS1002584277 (19:42932924 T>C), RS1002616610 (19:42937441 C>T), RS1002711837 (19:42930094 A>G,T)

Disease associations

OMIM: gene MIM:176396 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008362_32	Birth weight	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
potassium chromate(VI)	increases expression	1
seocalcitol	increases expression	1
monomethylarsonous acid	increases expression	1
4-OH-2’,3,3’,4’,5’-pentachlorobiphenyl	decreases reaction, increases expression	1
Benzo(a)pyrene	increases methylation	1
Chromium	increases expression	1
Lucanthone	increases expression	1
Polychlorinated Biphenyls	increases expression, decreases reaction	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	increases reaction, increases expression	1
Triiodothyronine	increases expression, increases reaction, decreases reaction	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
8-Bromo Cyclic Adenosine Monophosphate	decreases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	increases expression	1
Uranium Compounds	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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