TSHB thyroid stimulating hormone subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSHBprovided by HGNC
Official Full Name: thyroid stimulating hormone subunit betaprovided by HGNC
Primary source: HGNC:HGNC:12372
See related: Ensembl:ENSG00000134200 MIM:188540; AllianceGenome:HGNC:12372
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: TSH-B; TSH-BETA
Summary: The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (115029826..115034309)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (115041260..115045748)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (115572447..115576930)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Human TSHbeta Subunit Proteins and Their Binding Sites on the TSH Receptor Using Molecular Dynamics Simulation.
Title: The Human TSHβ Subunit Proteins and Their Binding Sites on the TSH Receptor Using Molecular Dynamics Simulation.
Cold Exposure Distinctively Modulates Parathyroid and Thyroid Hormones in Cold-Acclimatized and Non-Acclimatized Humans.
Title: Cold Exposure Distinctively Modulates Parathyroid and Thyroid Hormones in Cold-Acclimatized and Non-Acclimatized Humans.
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Title: GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
dentification of a mutation in the TSHbeta gene reinforces the importance of identifying ICCH that can occur in the absence of elevated serum TSH and demonstrates the functional significance of the TSHbeta cysteine knot.
Title: Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.
TSH level was found to be independently correlated with both carotid plaque prevalence and intima-media thickness.
Title: Thyrotropin aggravates atherosclerosis by promoting macrophage inflammation in plaques.
The Pathogenic TSH beta-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
Title: The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
Report of TSHB mutation causing central congenital hypothyroidism in a Brazilian family.
Title: A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING.
Serum macro TSH level is associated with sleep quality in patients with cardiovascular risks.
Title: Serum Macro TSH Level is Associated with Sleep Quality in Patients with Cardiovascular Risks - HSCAA Study.
present the cases of two siblings with a novel mutation of TSHB. One of them was c.40A>G (rs10776792) which is a very common variation that is also seen in healthy individuals, the other was c.94G>A at codon 32 of exon 2 which resulted in a change from glutamic acid to lysine (p.E32K
Title: Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
The serum levels of IL-8, MIP-1 alpha, MIP-1 beta, MMP-8, Resistin, FLRG, and BCAM were significantly higher in breast cancer patients, but LAP and TSH-beta levels were lower.
Title: Serum cytokine profile in patients with breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated thyroid-stimulating hormone deficiency MedGen: C0271789 OMIM: 275100 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:480813

D1S3459 (e-PCR)
- UniSTS:154713

SHGC-75364 (e-PCR)
- UniSTS:57764

NoName (e-PCR)
- UniSTS:483798

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: thyrotropin subunit beta

Names: thyroid stimulating hormone beta; thyrotropin beta chain

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_015891.1 RefSeqGene

Range

5033..9509

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000549.5 → NP_000540.2 thyrotropin subunit beta isoform 1 precursor

See identical proteins and their annotated locations for NP_000540.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as native TSH-beta).

Source sequence(s)

AL109660

Consensus CDS

CCDS880.1

UniProtKB/Swiss-Prot

B1AKP0, P01222, Q16163

UniProtKB/TrEMBL

A0A0F7RQP6

Related

ENSP00000256592.1, ENST00000256592.3

Conserved Domains (1) summary

smart00068
Location:18 → 126

GHB; Glycoprotein hormone beta chain homologues
NM_001277991.1 → NP_001264920.1 thyrotropin subunit beta isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) initiates translation at an alternate start codon and contains an intronless coding sequence, compared to variant 1. The encoded isoform (2, also known as novel TSH-beta) has a distinct N-terminus and is shorter than isoform 1. This variant is based on experimental data in PMIDs 19364510 and 22752807.

Source sequence(s)

AL109660

UniProtKB/TrEMBL

Q15962

Conserved Domains (1) summary

cl21545
Location:7 → 81

GHB_like; Glycoprotein hormone beta chain homologues