TSHB Gene (Protein Coding)

Thyroid Stimulating Hormone Subunit Beta

GC01P115029
GIFtS:
43
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. Thyro... See more...

Aliases for TSHB Gene

Aliases for TSHB Gene

  • Thyroid Stimulating Hormone Subunit Beta 2 3 5
  • Thyrotropin Subunit Beta 2 3 4
  • Thyroid Stimulating Hormone Beta 2 3
  • Thyrotropin Beta Chain 3 4
  • TSH-B 3 4
  • Thyroid-Stimulating Hormone Subunit Beta 4
  • Thyrotropin Alfa 4
  • TSH-BETA 3
  • TSH-Beta 4
  • TSHB 5

External Ids for TSHB Gene

Previous GeneCards Identifiers for TSHB Gene

  • GC01P115989
  • GC01P114458
  • GC01P114672
  • GC01P114874
  • GC01P114871
  • GC01P115284
  • GC01P115572
  • GC01P113430

Summaries for TSHB Gene

Entrez Gene Summary for TSHB Gene

  • 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]

GeneCards Summary for TSHB Gene

TSHB (Thyroid Stimulating Hormone Subunit Beta) is a Protein Coding gene. Diseases associated with TSHB include Hypothyroidism, Congenital, Nongoitrous, 4 and Central Congenital Hypothyroidism. Among its related pathways are Signaling by GPCR and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is FSHB.

UniProtKB/Swiss-Prot Summary for TSHB Gene

  • Indispensable for the control of thyroid structure and metabolism.

Gene Wiki entry for TSHB Gene

Additional gene information for TSHB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSHB Gene

Genomics for TSHB Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TSHB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J115029 Promoter 0.3 EPDnew 250.7 0.0 -19 0.1 HSALNG0006248 TSHB piR-32325-007 SYCP1
GH01J115067 Enhancer 1 Ensembl ENCODE dbSUPER 18.4 +41.9 41875 9.4 ZNF217 CEBPB MAX EP300 PAX8 RAD21 CTBP1 STAT3 TCF7L2 CTCF TSHB AMPD1 DENND2C TSPAN2 HSALNG0006257
GH01J115097 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +69.3 69348 4.3 SP1 BCL11A FEZF1 ZIC2 SIN3A IRF4 EBF1 MAX ASH2L ZNF24 LINC01765 TSHB TSPAN2 HSALNG0006261 NGF
GH01J115056 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 +26.9 26875 1.8 BCL11A EBF1 TEAD3 BATF POLR2A MAFK IKZF1 BMI1 TCF12 SP1 lnc-NGF-2 TSPAN2 TSHB AMPD1 HSALNG0006252
GH01J115061 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.3 +33.1 33088 2.3 CEBPB MAX EP300 EBF1 RFX5 ZNF146 TCF7L2 ZKSCAN1 POLR2A SMARCE1 TSPAN2 TSHB AMPD1 BCAS2 SIKE1 HSALNG0006257 piR-56341-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSHB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSHB

Top Transcription factor binding sites by QIAGEN in the TSHB gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E4BP4
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TSHB Gene

Latest Assembly
chr1:115,029,826-115,035,935
(GRCh38/hg38)
Size:
6,110 bases
Orientation:
Plus strand

Previous Assembly
chr1:115,572,447-115,576,930
(GRCh37/hg19 by Entrez Gene)
Size:
4,484 bases
Orientation:
Plus strand

chr1:115,572,415-115,576,941
(GRCh37/hg19 by Ensembl)
Size:
4,527 bases
Orientation:
Plus strand

Genomic View for TSHB Gene

Genes around TSHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSHB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TSHB Gene

Proteins for TSHB Gene

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  • Protein details for TSHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01222-TSHB_HUMAN
    Recommended name:
    Thyrotropin subunit beta
    Protein Accession:
    P01222
    Secondary Accessions:
    • B1AKP0
    • Q16163

    Protein attributes for TSHB Gene

    Size:
    138 amino acids
    Molecular mass:
    15639 Da
    Quaternary structure:
    • Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.
    Miscellaneous:
    • [Isoform 2]: Major isoform in peripheral blood leukocytes and thyroid, may form heterodimers with isoform 1.

    Alternative splice isoforms for TSHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSHB Gene

Post-translational modifications for TSHB Gene

  • Glycosylation at Asn43

Other Protein References for TSHB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSHB Gene

Domains & Families for TSHB Gene

Gene Families for TSHB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for TSHB Gene

InterPro:
Blocks:
  • Growth factor cystine knot superfamily signature
  • Cystine knot domain
  • Gonadotropin, beta chain
ProtoNet:

Suggested Antigen Peptide Sequences for TSHB Gene

GenScript: Design optimal peptide antigens:
  • Thyrotropin beta chain (TSHB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01222

UniProtKB/Swiss-Prot:

TSHB_HUMAN :
  • Belongs to the glycoprotein hormones subunit beta family.
Family:
  • Belongs to the glycoprotein hormones subunit beta family.
genes like me logo Genes that share domains with TSHB: view

Function for TSHB Gene

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  6. Cell Lines for research

Molecular function for TSHB Gene

UniProtKB/Swiss-Prot Function:
Indispensable for the control of thyroid structure and metabolism.
GENATLAS Biochemistry:
thyroid stimulating hormone,beta polypeptide,thyroid hormones,secretion and metabolic pathway

Phenotypes From GWAS Catalog for TSHB Gene

Gene Ontology (GO) - Molecular Function for TSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 contributes_to hormone activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with TSHB: view
genes like me logo Genes that share phenotypes with TSHB: view

Human Phenotype Ontology for TSHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSHB Gene

MGI Knock Outs for TSHB:

Animal Models for research

miRNA for TSHB Gene

miRTarBase miRNAs that target TSHB

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TSHB Gene

Localization for TSHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSHB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSHB gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with TSHB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSHB Gene

Pathways & Interactions for TSHB Gene

genes like me logo Genes that share pathways with TSHB: view

SIGNOR curated interactions for TSHB Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007267 cell-cell signaling TAS 2792087
GO:0009653 anatomical structure morphogenesis TAS 2792087
GO:0009755 hormone-mediated signaling pathway IBA 21873635
GO:0016486 peptide hormone processing TAS --
genes like me logo Genes that share ontologies with TSHB: view

Drugs & Compounds for TSHB Gene

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(6) Drugs for TSHB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for TSHB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSHB: view

Transcripts for TSHB Gene

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mRNA/cDNA for TSHB Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSHB

Alternative Splicing Database (ASD) splice patterns (SP) for TSHB Gene

No ASD Table

Relevant External Links for TSHB Gene

GeneLoc Exon Structure for
TSHB

Expression for TSHB Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSHB Gene

mRNA expression in normal human tissues for TSHB Gene
mRNA expression by BioGPS for TSHB GenemRNA expression by GTEx for TSHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSHB Gene

This gene is overexpressed in Pituitary (x52.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSHB

SOURCE GeneReport for Unigene cluster for TSHB Gene:

Hs.406687

Evidence on tissue expression from TISSUES for TSHB Gene

  • Thyroid gland(2.8)
  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSHB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • heart
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • rectum
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TSHB: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TSHB Gene

Orthologs for TSHB Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSHB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TSHB 30 31
  • 99.02 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TSHB 30 31
  • 91.79 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TSHB 30 31
  • 89.37 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tshb 30 17 31
  • 83.57 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TSHB 31
  • 83 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tshb 30
  • 82.48 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TSHB 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TSHB 30 31
  • 70.51 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TSHB 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100496349 30
  • 64.96 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tshb 30 31
  • 56.18 (n)
 OneToOne
Species where no ortholog for TSHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TSHB Gene

ENSEMBL:
Gene Tree for TSHB (if available)
TreeFam:
Gene Tree for TSHB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSHB: view image

Paralogs for TSHB Gene

Paralogs for TSHB Gene

(8) SIMAP similar genes for TSHB Gene using alignment to 1 proteins:

  • TSHB_HUMAN
genes like me logo Genes that share paralogs with TSHB: view

Variants for TSHB Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSHB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
875322 Uncertain Significance: Secondary hypothyroidism 115,034,291(+) T/C
NM_000549.5(TSHB):c.*64T>C 		THREE_PRIME_UTR
976259 Uncertain Significance: Secondary hypothyroidism 115,034,184(+) G/A
NM_000549.5(TSHB):c.374G>A (p.Cys125Tyr) 		MISSENSE
rs10776792 Benign: Congenital hypothyroidism; Secondary hypothyroidism; not specified. - 115,033,402(+) A/Gp.Thr14Ala
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) 		MISSENSE
rs121918668 Pathogenic: Secondary hypothyroidism 115,033,507(+) G/A
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) 		MISSENSE
rs121918669 Pathogenic: Secondary hypothyroidism 115,033,456(+) G/T
NM_000549.5(TSHB):c.94G>T (p.Glu32Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TSHB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TSHB Gene

Variant ID Type Subtype PubMed ID
esv26121 CNV loss 19812545
nsv463295 CNV loss 19166990
nsv528883 CNV loss 19592680
nsv547570 CNV loss 21841781

Variation tolerance for TSHB Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSHB Gene

Human Gene Mutation Database (HGMD)
TSHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSHB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSHB Gene

Disorders for TSHB Gene

MalaCards: The human disease database

(20) MalaCards diseases for TSHB Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 4
  • chng4
central congenital hypothyroidism
  • secondary hypothyroidism
hypothyroidism
  • thyroid deficiency
tsh producing pituitary tumor
  • thyrotroph adenoma
congenital hypothyroidism
  • neonatal hypothyroidism
- elite association - COSMIC cancer census association via MalaCards
Search TSHB in MalaCards View complete list of genes associated with diseases

Genatlas disease for TSHB Gene

hypothyroidism,pituitary,familial

Additional Disease Information for TSHB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TSHB: view

No data available for UniProtKB/Swiss-Prot for TSHB Gene

Publications for TSHB Gene

  1. A novel thyroid stimulating hormone beta-subunit isoform in human pituitary, peripheral blood leukocytes, and thyroid. (PMID: 19364510) Schaefer JS … Klein JR (General and comparative endocrinology 2009) 3 4 23
  2. Genetic predisposition to elevated serum thyrotropin is associated with exceptional longevity. (PMID: 19837933) Atzmon G … Gabriely I (The Journal of clinical endocrinology and metabolism 2009) 3 23 41
  3. Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe. (PMID: 15297803) Karges B … Karges W (Hormone research 2004) 3 23 41
  4. Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. (PMID: 11297590) Bonomi M … Persani L (The Journal of clinical endocrinology and metabolism 2001) 3 23 74
  5. Isolation and characterization of the human thyrotropin beta-subunit gene. Differences in gene structure and promoter function from murine species. (PMID: 2457586) Wondisford FE … Weintraub BD (The Journal of biological chemistry 1988) 2 3 4

ExternalLinks

View latest publications for TSHB gene in Mastermind

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