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

    Gene ID: 7252, updated on 8-Jul-2021

    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
    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

    See TSHB in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (115029826..115035935)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115572447..115576930)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 tetraspanin 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_015891.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000549.5NP_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
      P01222
      Related
      ENSP00000256592.1, ENST00000256592.3
      Conserved Domains (1) summary
      smart00068
      Location:18126
      GHB; Glycoprotein hormone beta chain homologues
    2. NM_001277991.1NP_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/Swiss-Prot
      P01222
      Conserved Domains (1) summary
      cl21545
      Location:781
      GHB_like; Glycoprotein hormone beta chain homologues

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      115029826..115035935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542065.2XP_011540367.1  thyrotropin subunit beta isoform X1

      See identical proteins and their annotated locations for XP_011540367.1

      UniProtKB/Swiss-Prot
      P01222
      Conserved Domains (1) summary
      smart00068
      Location:18126
      GHB; Glycoprotein hormone beta chain homologues
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