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Aliases for TSHB Gene

Aliases for TSHB Gene

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

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 Beta) is a Protein Coding gene. Diseases associated with TSHB include Hypothryoidism, Congenital, Nongoitrous 4 and Isolated Thyroid-Stimulating Hormone Deficiency. Among its related pathways are Peptide ligand-binding receptors and Allograft rejection. GO annotations related to this gene include hormone activity. An important paralog of this gene is CGB7.

UniProtKB/Swiss-Prot for TSHB Gene

  • Indispensable for the control of thyroid structure and metabolism.

Gene Wiki entry for TSHB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSHB Gene

Genomics for TSHB Gene

Regulatory Elements for TSHB Gene

Enhancers for TSHB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TSHB on UCSC Golden Path with GeneCards custom track

Genomic Location for TSHB Gene

Chromosome:
1
Start:
115,029,824 bp from pter
End:
115,034,309 bp from pter
Size:
4,486 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 StructureGene Density

RefSeq DNA sequence for TSHB Gene

Proteins for TSHB Gene

  • 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.

    Alternative splice isoforms for TSHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSHB Gene

Proteomics data for TSHB Gene at MOPED

Post-translational modifications for TSHB Gene

Other Protein References for TSHB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TSHB Gene

Domains & Families for TSHB Gene

Gene Families for TSHB Gene

Suggested Antigen Peptide Sequences for TSHB Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for TSHB Gene

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

miRNA for TSHB Gene

miRTarBase miRNAs that target TSHB

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TSHB Gene COMPARTMENTS Subcellular localization image for TSHB gene
Compartment Confidence
extracellular 5
nucleus 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for TSHB Gene

Pathways & Interactions for TSHB Gene

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

Interacting Proteins for TSHB Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000256592%0d%0a9606.ENSP00000318820%0d%0a9606.ENSP00000358595%0d%0a9606.ENSP00000298171%0d%0a
Selected Interacting proteins: ENSP00000256592 P01222-TSHB_HUMAN for TSHB Gene via STRING I2D

SIGNOR curated interactions for TSHB Gene

Activates:

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 2792087
GO:0007267 cell-cell signaling TAS 2792087
GO:0009653 anatomical structure morphogenesis TAS 2792087
GO:0016486 peptide hormone processing TAS --
GO:0033189 response to vitamin A IEA --
genes like me logo Genes that share ontologies with TSHB: view

Drugs & Compounds for TSHB Gene

(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

mRNA/cDNA for TSHB Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TSHB Gene

Thyroid stimulating hormone, beta:
Representative Sequences:

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

No ASD Table

Relevant External Links for TSHB Gene

GeneLoc Exon Structure for
TSHB
ECgene alternative splicing isoforms for
TSHB

Expression for TSHB Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for TSHB Gene Hs.406687

genes like me logo Genes that share expression patterns with TSHB: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia TSHB 35
  • 89.37 (n)
  • 88.41 (a)
TSHB 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSHB 35
  • 91.79 (n)
  • 90.58 (a)
TSHB 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tshb 35
  • 83.57 (n)
  • 84.78 (a)
Tshb 16
Tshb 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TSHB 35
  • 99.02 (n)
  • 97.06 (a)
TSHB 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tshb 35
  • 82.48 (n)
  • 85.4 (a)
oppossum
(Monodelphis domestica)
Mammalia TSHB 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSHB 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHB 35
  • 70.51 (n)
  • 70.77 (a)
TSHB 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSHB 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496349 35
  • 64.96 (n)
  • 60.58 (a)
zebrafish
(Danio rerio)
Actinopterygii tshb 35
  • 56.18 (n)
  • 48.39 (a)
tshb 36
  • 38 (a)
OneToOne
Species with no ortholog for TSHB:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TSHB Gene

Paralogs for TSHB Gene

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

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

Variants for TSHB Gene

Sequence variations from dbSNP and Humsavar for TSHB Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10776792 - 115,033,402(+) GCCTT(A/G)CATGT upstream-variant-2KB, reference, missense
rs140711 -- 115,029,307(-) AATGA(-/CT)CTCTG upstream-variant-2KB
rs1321107 -- 115,032,682(-) TTTAG(G/T)TCTAC intron-variant, upstream-variant-2KB
rs1321108 -- 115,029,744(-) TGATT(C/T)ACTGC upstream-variant-2KB
rs1321109 -- 115,029,295(-) GAACA(C/T)GGCCA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv528883 CNV Loss 19592680
esv26121 CNV Loss 19812545
nsv463295 CNV Loss 19166990

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)

Relevant External Links for TSHB Gene

Human Gene Mutation Database (HGMD)
TSHB

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

Disorders for TSHB Gene

MalaCards: The human disease database

(15) MalaCards diseases for TSHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypothryoidism, congenital, nongoitrous 4
  • secondary hypothyroidism
isolated thyroid-stimulating hormone deficiency
  • isolated tsh deficiency
tsh producing pituitary tumor
  • thyrotroph adenoma
hypothyroidism
  • thyroid deficiency
central congenital hypothyroidism
  • secondary 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

Relevant External Links for TSHB

Genetic Association Database (GAD)
TSHB
Human Genome Epidemiology (HuGE) Navigator
TSHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSHB
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. The structure of the human thyrotropin beta-subunit gene. (PMID: 3243440) Tatsumi K. … Matsubara K. (Gene 1988) 2 3 4 67
  2. A novel thyroid stimulating hormone beta-subunit isoform in human pituitary, peripheral blood leukocytes, and thyroid. (PMID: 19364510) Schaefer J.S. … Klein J.R. (Gen. Comp. Endocrinol. 2009) 3 23
  3. Genetic predisposition to elevated serum thyrotropin is associated with exceptional longevity. (PMID: 19837933) Atzmon G. … Gabriely I. (J. Clin. Endocrinol. Metab. 2009) 3 23
  4. Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature. (PMID: 16804796) Partsch C.J. … Pohlenz J. (Exp. Clin. Endocrinol. Diabetes 2006) 3 23
  5. Induction of GH, PRL, and TSH beta mRNA by transfection of Pit-1 in a human pituitary adenoma-derived cell line. (PMID: 16133148) Miyai S. … Osamura R.Y. (Cell Tissue Res. 2005) 3 23

Products for TSHB Gene

Sources for TSHB Gene

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