Human Gene TSHB (ENST00000256592.3) from GENCODE V44
  Description: Homo sapiens thyroid stimulating hormone subunit beta (TSHB), transcript variant 1, mRNA. (from RefSeq NM_000549)
RefSeq Summary (NM_000549): 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].
Gencode Transcript: ENST00000256592.3
Gencode Gene: ENSG00000134200.4
Transcript (Including UTRs)
   Position: hg38 chr1:115,029,826-115,034,302 Size: 4,477 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr1:115,033,363-115,034,227 Size: 865 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:115,029,826-115,034,302)mRNA (may differ from genome)Protein (138 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TSHB_HUMAN
DESCRIPTION: RecName: Full=Thyrotropin subunit beta; AltName: Full=Thyroid-stimulating hormone subunit beta; Short=TSH-B; Short=TSH-beta; AltName: Full=Thyrotropin beta chain; AltName: INN=Thyrotropin alfa; Flags: Precursor;
FUNCTION: Indispensable for the control of thyroid structure and metabolism.
SUBUNIT: Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.
SUBCELLULAR LOCATION: Secreted.
PHARMACEUTICAL: Available under the name Thyrogen (Genzyme). Used in combination with other tests to detect recurring or leftover thyroid cancer cells in patients with a history of certain types of thyroid cancer.
SIMILARITY: Belongs to the glycoprotein hormones subunit beta family.
WEB RESOURCE: Name=Thyrogen; Note=Clinical information on Thyrogen; URL="http://www.thyrogen.com/home/thy_home.asp";
WEB RESOURCE: Name=Wikipedia; Note=Thyroid-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Thyroid-stimulating_hormone";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TSHB
Diseases sorted by gene-association score: hypothyroidism, congenital, nongoitrous 4* (1372), central congenital hypothyroidism* (418), hypothyroidism (19), tsh producing pituitary tumor (17), thyroiditis (13), hashimoto thyroiditis (11), suprasellar meningioma (11), congenital hypothyroidism (11), pituitary adenoma (9), pituitary tumors (7), thyroid gland disease (6), endemic goiter (6), pituitary hormone deficiency, combined, 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 328.51 RPKM in Pituitary
Total median expression: 331.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.6036-0.072 Picture PostScript Text
3' UTR -7.4075-0.099 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006208 - Cys_knot
IPR001545 - Gonadotropin_bsu
IPR018245 - Gonadotropin_bsu_CS

Pfam Domains:
PF00007 - Cystine-knot domain

ModBase Predicted Comparative 3D Structure on P01222
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0009653 anatomical structure morphogenesis
GO:0009755 hormone-mediated signaling pathway
GO:0010469 regulation of receptor activity
GO:0016486 peptide hormone processing
GO:0033189 response to vitamin A
GO:0043627 response to estrogen
GO:0051592 response to calcium ion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  HQ448420 - Synthetic construct Homo sapiens clone IMAGE:100071848; CCSB014071_01 thyroid stimulating hormone, beta (TSHB) gene, encodes complete protein.
KJ897709 - Synthetic construct Homo sapiens clone ccsbBroadEn_07103 TSHB gene, encodes complete protein.
KR711370 - Synthetic construct Homo sapiens clone CCSBHm_00023172 TSHB (TSHB) mRNA, encodes complete protein.
KR711371 - Synthetic construct Homo sapiens clone CCSBHm_00023174 TSHB (TSHB) mRNA, encodes complete protein.
CU686728 - Synthetic construct Homo sapiens gateway clone IMAGE:100022528 5' read TSHB mRNA.
BC069298 - Homo sapiens thyroid stimulating hormone, beta, mRNA (cDNA clone MGC:97444 IMAGE:7262720), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa05320 - Autoimmune thyroid disease

Reactome (by CSHL, EBI, and GO)

Protein P01222 (Reactome details) participates in the following event(s):

R-HSA-378952 Thyrotropin is a heterodimer
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-391375 Thyroid-stimulating hormone receptor can bind TSH, Thyrostimulin
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-209822 Glycoprotein hormones
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-418555 G alpha (s) signalling events
R-HSA-375281 Hormone ligand-binding receptors
R-HSA-2980736 Peptide hormone metabolism
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-392499 Metabolism of proteins
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B1AKP0, ENST00000256592.1, ENST00000256592.2, NM_000549, P01222, Q16163, TSHB_HUMAN, uc001efs.1, uc001efs.2, uc001efs.3
UCSC ID: ENST00000256592.3
RefSeq Accession: NM_000549
Protein: P01222 (aka TSHB_HUMAN)
CCDS: CCDS880.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.