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

Gene ID: 7252, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See TSHB in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak384 silencer Neighboring gene nuclear receptor subfamily 1 group H member 5, pseudogene Neighboring gene synaptonemal complex protein 1 Neighboring gene uncharacterized LOC105378915 Neighboring gene Sharpr-MPRA regulatory region 5363 Neighboring gene NANOG hESC enhancer GRCh37_chr1:115589292-115589828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:115604953-115605476 Neighboring gene uncharacterized LOC124904359 Neighboring gene tetraspanin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1554 Neighboring gene long intergenic non-protein coding RNA 1765

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ. Ebrhim RS, et al. Horm Res Paediatr, 2019. PMID 31914441, Free PMC Article
  2. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING. Borges MF, et al. Rev Paul Pediatr, 2019. PMID 31166470, Free PMC Article
  3. Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings. Özhan B, et al. J Clin Res Pediatr Endocrinol, 2017 Sep 1. PMID 28515030, Free PMC Article
  4. Serum Macro TSH Level is Associated with Sleep Quality in Patients with Cardiovascular Risks - HSCAA Study. Kadoya M, et al. Sci Rep, 2017 Mar 13. PMID 28287185, Free PMC Article
  5. T3 Regulates a Human Macrophage-Derived TSH-β Splice Variant: Implications for Human Bone Biology. Baliram R, et al. Endocrinology, 2016 Sep. PMID 27300765, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

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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

Associated conditions

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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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Preferred Names
thyrotropin subunit beta
Names
thyroid stimulating hormone beta
thyrotropin beta chain

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.

Genomic

  1. NG_015891.1 RefSeqGene

    Range
    5033..9509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    115029826..115034309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    115041260..115045748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01222.2 GenPept UniProtKB/Swiss-Prot:P01222

Gene LinkOut

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