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

    Gene ID: 7252, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (115029826..115034309)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (115041260..115045748)
    RS_2024_09 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. Gene symbol: TSH B. Disease: congenital hypothyroidism. Sertedaki A, et al. Hum Genet, 2004 Jul. PMID 15300985
    2. [A study of the secretion capacity of TSH-beta in patients with pituitary disorders]. Hara H, et al. Nihon Naibunpi Gakkai Zasshi, 1988 Oct 20. PMID 3145219
    3. New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening. Ramos HE, et al. Thyroid, 2010 Jun. PMID 20553196
    4. Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening. Baquedano MS, et al. J Clin Endocrinol Metab, 2010 Sep. PMID 20534762
    5. The human thyrotropin beta-subunit gene differs in 5' structure from murine TSH-beta genes. Guidon PT Jr, et al. DNA, 1988 Dec. PMID 3234176

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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

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