CGB7

Summary

CGB7 (chorionic gonadotropin subunit beta 7, HGNC:16451) is a protein-coding gene on chromosome 19q13.33, encoding Choriogonadotropin subunit beta 7 (P0DN87). Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated.

This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene.

Source: NCBI Gene 94027 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001385261

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16451
Approved symbol	CGB7
Name	chorionic gonadotropin subunit beta 7
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	CG-beta-a
Ensembl gene	ENSG00000196337
Ensembl biotype	protein_coding
OMIM	608826
Entrez	94027

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000596965, ENST00000597853, ENST00000598442, ENST00000684222, ENST00000880970, ENST00000880971, ENST00000929460, ENST00000929461, ENST00000929462

RefSeq mRNA: 2 — MANE Select: NM_001385261 NM_001385261, NM_033142

CCDS: CCDS33071

Canonical transcript exons

ENST00000684222 — 5 exons

Exon	Start	End
ENSE00002208205	49055361	49056595
ENSE00002516685	49054841	49055008
ENSE00003794470	49057121	49057248
ENSE00003917409	49054274	49054605
ENSE00003919791	49057462	49057749

Expression profiles

Bgee: expression breadth broad, 82 present calls, max score 67.74.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1714 / max 12.0524, expressed in 76 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181984	0.1714	76

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	67.74	gold quality
skin of abdomen	UBERON:0001416	66.49	gold quality
zone of skin	UBERON:0000014	66.04	gold quality
skin of leg	UBERON:0001511	65.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	64.58	gold quality
esophagus mucosa	UBERON:0002469	63.65	gold quality
stromal cell of endometrium	CL:0002255	63.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	63.04	gold quality
skeletal muscle tissue	UBERON:0001134	62.33	gold quality
gastrocnemius	UBERON:0001388	61.30	gold quality
muscle of leg	UBERON:0001383	61.18	gold quality
prostate gland	UBERON:0002367	59.95	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	57.77	gold quality
vagina	UBERON:0000996	57.74	gold quality
right uterine tube	UBERON:0001302	56.50	gold quality
muscle tissue	UBERON:0002385	56.43	gold quality
saliva-secreting gland	UBERON:0001044	53.27	gold quality
minor salivary gland	UBERON:0001830	53.08	gold quality
placenta	UBERON:0001987	52.45	gold quality
esophagus	UBERON:0001043	50.27	gold quality
pituitary gland	UBERON:0000007	49.30	gold quality
right lung	UBERON:0002167	48.97	gold quality
duodenum	UBERON:0002114	47.59	silver quality
uterine cervix	UBERON:0000002	47.24	gold quality
thoracic mammary gland	UBERON:0005200	46.97	gold quality
ectocervix	UBERON:0012249	46.58	gold quality
urinary bladder	UBERON:0001255	46.40	gold quality
adenohypophysis	UBERON:0002196	45.24	gold quality
upper lobe of left lung	UBERON:0008952	45.24	gold quality
left uterine tube	UBERON:0001303	45.15	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	3948.62
E-HCAD-5	yes	36.41
E-ANND-3	no	0.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

Literature-anchored findings (GeneRIF, showing 2)

• Expression of the CGB7 gene is upregulated upon p53 induction in human HFF, HCT116 and DLD1 cells as well as in cell preparations enriched in human primary first-trimester trophoblasts. (PMID:22032922)
• N- and O-glycosylation patterns and functional testing of CGB7 versus CGB3/5/8 variants of the human chorionic gonadotropin (hCG) beta subunit. (PMID:32767150)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Gpb5	FBGN0063368

Paralogs (9): CGB2 (ENSG00000104818), LHB (ENSG00000104826), CGB3 (ENSG00000104827), FSHB (ENSG00000131808), TSHB (ENSG00000134200), GPHB5 (ENSG00000179600), CGB5 (ENSG00000189052), CGB8 (ENSG00000213030), CGB1 (ENSG00000267631)

Protein

Protein identifiers

Choriogonadotropin subunit beta 7 — P0DN87 (reviewed: P0DN87)

All UniProt accessions (2): A0A0F7RQF0, P0DN87

UniProt curated annotations — full annotation on UniProt →

Function. Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role for pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy.

Subunit / interactions. Heterodimer of a common alpha chain identical in LH, FSH, TSH and HCG and a unique beta chain distinct in each of the hormones and confers receptor and biological specificity.

Subcellular location. Secreted.

Tissue specificity. High expression in the placenta throughout pregnancy.

Miscellaneous. Encoded by a cluster of genes that have evolved by duplication from LHB. HCG-beta is encoded by six non-allelic genes (CGB) clustered on chromosome 19q13.3 and named CGB1, CGB2, CGB3, CGB5, CGB7 and CGB8. Two specific hCGb proteins that differ by three amino acids in positions 2,4 and 117 have been described: type 1 (CGB7) and type 2 (CGB3, CGB5, CGB8). The CGB gene first arose in the common ancestor of the anthropoid primates.

Similarity. Belongs to the glycoprotein hormones subunit beta family.

RefSeq proteins (2): NP_001372190, NP_149133 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001545	Gonadotropin_bsu	Family
IPR006208	Glyco_hormone_CN	Domain
IPR018245	Gonadotropin_bsu_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00007

UniProt features (16 total): disulfide bond 6, glycosylation site 6, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DN87-F1	78.70	0.46

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 (6): 29–77, 43–92, 46–130, 54–108, 58–110, 113–120

Glycosylation sites (6): 33, 50, 141, 147, 152, 158

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 25 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_CELL_CELL_SIGNALING, GGARNTKYCCA_UNKNOWN, GOBP_FEMALE_GAMETE_GENERATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOMF_HORMONE_ACTIVITY, SMAD4_Q6, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, EGR_Q6, SKIL_TARGET_GENES, ZNF563_TARGET_GENES, DESCARTES_MAIN_FETAL_TROPHOBLAST_GIANT_CELLS, DESCARTES_FETAL_KIDNEY_MESANGIAL_CELLS, GOMF_MOLECULAR_FUNCTION_ACTIVATOR_ACTIVITY

GO Biological Process (5): apoptotic process (GO:0006915), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), cell-cell signaling (GO:0007267), female gamete generation (GO:0007292)

GO Molecular Function (2): hormone activity (GO:0005179), signaling receptor binding (GO:0005102)

GO Cellular Component (3): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	2
signaling	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
gamete generation	1
receptor ligand activity	1
protein binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A6NKQ9, B1AWI6, G7PWZ3, I6M4H4, O09108, O46482, O46483, O46641, O77805, O77835, P01229, P01230, P01231, P01232, P04651, P07434, P08751, P0DN86, P0DN87, P17490, P19794, P27767, P30984, P43021, P45646, P45657, P51500, Q04997, Q1L6U9, Q2Q1P0, Q2Q1P1, Q2Q1P2, Q3HRV3, Q3S2X5, Q6EV78, Q6HA10, Q6NT52, Q6PX77, Q7ZZV4, Q8CB67

Diamond homologs: A1BN60, A1BN61, A6NKQ9, O09108, O13050, O46430, O46482, O46483, O46641, O57340, O73824, O77805, O77835, P01222, P01223, P01224, P01225, P01226, P01227, P01228, P01229, P01230, P01231, P01232, P01235, P04651, P04652, P04837, P07434, P07732, P08751, P0DN86, P0DN87, P10256, P10257, P12656, P12837, P18427, P19794, P25330

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	37
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

231 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49054836:CTCA:C	donor_loss	1.0000
19:49054837:TCA:T	donor_loss	1.0000
19:49054838:CA:C	donor_loss	1.0000
19:49054839:A:AC	donor_gain	1.0000
19:49054840:C:CC	donor_gain	1.0000
19:49054839:AC:A	donor_gain	0.9900
19:49054840:CC:C	donor_gain	0.9900
19:49054840:CCATG:C	donor_gain	0.9900
19:49055007:CC:C	acceptor_gain	0.9900
19:49055007:CCCTG:C	acceptor_loss	0.9900
19:49055008:CC:C	acceptor_gain	0.9900
19:49055008:CCT:C	acceptor_loss	0.9900
19:49055009:C:A	acceptor_loss	0.9900
19:49055009:C:CC	acceptor_gain	0.9900
19:49055009:C:T	acceptor_gain	0.9900
19:49055010:T:A	acceptor_loss	0.9900
19:49054614:CG:C	acceptor_gain	0.9800
19:49054615:G:C	acceptor_gain	0.9800
19:49055005:GCCC:G	acceptor_gain	0.9800
19:49055006:CCC:C	acceptor_gain	0.9800
19:49055006:CCCC:C	acceptor_gain	0.9800
19:49055007:CCC:C	acceptor_gain	0.9800
19:49054613:CCGTG:C	acceptor_gain	0.9700
19:49054614:C:T	acceptor_gain	0.9700
19:49054840:CCA:C	donor_gain	0.9700
19:49054840:CCAT:C	donor_gain	0.9700
19:49055004:AGCCC:A	acceptor_gain	0.9700
19:49054601:CGGGT:C	acceptor_gain	0.9600
19:49054615:G:GC	acceptor_gain	0.9600
19:49054617:G:C	acceptor_gain	0.9600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000289437 (19:49055296 C>T), RS1000373517 (19:49058545 C>G), RS1000476557 (19:49058905 A>G), RS1000744674 (19:49057748 A>G,T), RS1000820047 (19:49057873 G>C,T), RS1002420522 (19:49056888 C>T), RS1002492591 (19:49057027 C>A,G,T), RS1002752794 (19:49056170 GC>G), RS1004507022 (19:49055698 C>G), RS1004630905 (19:49057928 T>C,G), RS1004704480 (19:49059063 G>C,T), RS1005066804 (19:49058165 A>T), RS1006600357 (19:49056282 G>A,T), RS1008303229 (19:49055817 C>T), RS1008575791 (19:49058630 G>A)

Disease associations

OMIM: gene MIM:608826 | 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
GCST006979_686	Heel bone mineral density	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	2
perfluorooctane sulfonic acid	decreases reaction, increases expression	1
seocalcitol	decreases expression	1
abrine	increases expression	1
perfluorobutanesulfonic acid	decreases reaction, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Colforsin	increases expression, decreases reaction	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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