CGB5 chorionic gonadotropin subunit beta 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CGB5provided by HGNC
Official Full Name: chorionic gonadotropin subunit beta 5provided by HGNC
Primary source: HGNC:HGNC:16452
See related: Ensembl:ENSG00000189052 MIM:608825; AllianceGenome:HGNC:16452
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGB; HCG; hCGB
Summary: This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 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. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward placenta (RPKM 38.2) See more
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Genomic context

Location:: 19q13.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49043848..49045311)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52038633..52040096)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49547105..49548568)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human chorionic gonadotrophin indirectly activates peripheral gammadeltaT cells to produce interleukin-10 during early pregnancy.
Title: Human chorionic gonadotrophin indirectly activates peripheral γδT cells to produce interleukin-10 during early pregnancy.
Human Chorionic Gonadotropin Regulates the Smad Signaling Pathway by Antagonizing TGF-beta in Giant Cell Tumor of Bone.
Title: Human Chorionic Gonadotropin Regulates the Smad Signaling Pathway by Antagonizing TGF-β in Giant Cell Tumor of Bone.
Associations between nausea and vomiting in pregnancy, disgust sensitivity, and first-trimester maternal serum free beta-hCG and PAPP-A.
Title: Associations between nausea and vomiting in pregnancy, disgust sensitivity, and first-trimester maternal serum free β-hCG and PAPP-A.
CGB5, INHBA and TRAJ19 Hold Prognostic Potential as Immune Genes for Patients with Gastric Cancer.
Title: CGB5, INHBA and TRAJ19 Hold Prognostic Potential as Immune Genes for Patients with Gastric Cancer.
in mole pregnancy, levels at baseline, first, second, and third weeks post-evacuation predict persistent disease
Title: Predictive value of some hematological parameters for non-invasive and invasive mole pregnancies.
Carriage of particular variants in the promoter of the CGB5 gene seems to protect against recurrent miscarriage.
Title: A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage.
the accumulated data indicate that only mutations with neutral or mild functional consequences might be tolerated in the major hCG-beta genes CGB5 and CGB8.
Title: Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit.
carriers of minor alleles of CGB had a reduced risk of recurrent miscarriage
Title: Chorionic gonadotropin beta-gene variants are associated with recurrent miscarriage in two European populations.
compared the human (45,165 bp) and chimpanzee (39,876 bp) LHB/CGB regions and hereby present evidence for structural variation resulting in discordant number of CGB genes (6 in human, 5 in chimpanzee)
Title: High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes.
Data indicate the diagnostic criteria of chorionic gonadotropin beta subunit (beta-hCG) and alpha-Fetoprotein (alphaFP) in CSF and serum, which may advance the early and formal diagnosis of intracranial germ cell tumors (ICGCTs).
Title: An update on the clinical diagnostic value of β-hCG and αFP for intracranial germ cell tumors.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481079

D19S1130 (e-PCR)
- UniSTS:53128

RH71426 (e-PCR)
- UniSTS:32956

NoName (e-PCR)
- UniSTS:483811

STS-J00117 (e-PCR)
- UniSTS:32231

General protein information

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Preferred Names: chorionic gonadotropin, beta polypeptide 5

Names: chorionic gonadotropin beta 5 subunit; chorionic gonadotropin beta subunit 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.