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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)

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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_000549.5NP_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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