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Aliases for TSHB Gene

Aliases for TSHB Gene

  • Thyroid Stimulating Hormone Beta 2 3 5
  • Thyrotropin Beta Chain 3 4
  • TSH-BETA 3 4
  • TSH-B 3 4
  • Thyroid-Stimulating Hormone Subunit Beta 4
  • Thyrotropin Subunit Beta 3
  • 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 Hypothyroidism, Congenital, Nongoitrous, 4 and Central Congenital Hypothyroidism. Among its related pathways are Peptide hormone metabolism and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is LHB.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for TSHB Gene

Genomics for TSHB Gene

GeneHancer (GH) Regulatory Elements for TSHB Gene

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
GH01I115029 Promoter 0.5 EPDnew 550.8 0.0 -19 0.1 TSHB LOC105378915
GH01I115097 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +69.4 69350 4.3 MAX MZF1 EBF1 BMI1 FEZF1 ZIC2 IRF4 E4F1 ZNF335 ZNF664 LINC01765 TSHB TSPAN2
GH01I115061 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +33.1 33090 2.3 ZNF146 MXI1 JUN MAX EBF1 RFX5 ZKSCAN1 GATA3 POLR2A RCOR1 TSPAN2 TSHB AMPD1 BCAS2 SIKE1
GH01I114508 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -518.7 -518734 4.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 TRIM33 RSBN1 SIKE1 AP4B1 OLFML3 TSHB BCAS2 ENSG00000201114
GH01I115067 Enhancer 1 Ensembl ENCODE dbSUPER 11.3 +38.9 38900 3.4 MAX USF2 CEBPB EP300 RAD21 FOXA1 ZNF217 CTBP1 JUND GATA3 TSPAN2 TSHB AMPD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSHB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSHB gene promoter:

Genomic Locations for TSHB Gene

Genomic Locations for TSHB Gene
chr1:115,029,824-115,034,309
(GRCh38/hg38)
Size:
4,486 bases
Orientation:
Plus strand
chr1:115,572,415-115,576,941
(GRCh37/hg19)

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

Post-translational modifications for TSHB Gene

Other Protein References for TSHB Gene

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

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.

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 IBA --
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 Model Products

miRNA for TSHB Gene

miRTarBase miRNAs that target TSHB

Clone Products

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
endoplasmic reticulum 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 --
GO:0005737 cytoplasm IBA --
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:

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 --
GO:0010469 regulation of receptor activity 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of TSHB Gene:

TSHB

SOURCE GeneReport for Unigene cluster for TSHB Gene:

Hs.406687

Evidence on tissue expression from TISSUES for TSHB Gene

  • Thyroid gland(3)
  • Nervous system(2.6)

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

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 33 34
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia TSHB 33 34
  • 91.79 (n)
cow
(Bos Taurus)
Mammalia TSHB 33 34
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Tshb 33 16 34
  • 83.57 (n)
oppossum
(Monodelphis domestica)
Mammalia TSHB 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tshb 33
  • 82.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSHB 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSHB 33 34
  • 70.51 (n)
lizard
(Anolis carolinensis)
Reptilia TSHB 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496349 33
  • 64.96 (n)
zebrafish
(Danio rerio)
Actinopterygii tshb 33 34
  • 56.18 (n)
Species where no ortholog for TSHB was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs10776792 benign, not specified, Congenital hypothyroidism 115,033,402(+) A/C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs121918668 pathogenic, Secondary hypothyroidism 115,033,507(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs121918669 pathogenic, Secondary hypothyroidism 115,033,456(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained, upstream_transcript_variant
rs121918670 pathogenic, Secondary hypothyroidism 115,034,015(+) C/T coding_sequence_variant, stop_gained
rs190110651 uncertain-significance, Congenital hypothyroidism 115,034,066(+) G/A coding_sequence_variant, missense_variant

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 Assay Products

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

Disorders for TSHB Gene

MalaCards: The human disease database

(13) MalaCards diseases for TSHB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, congenital, nongoitrous, 4
  • chng4
central congenital hypothyroidism
  • secondary hypothyroidism
tsh producing pituitary tumor
  • thyrotroph adenoma
hypothyroidism
  • thyroid deficiency
thyroiditis
- 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 of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 22 44 58
  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 22 44 58
  4. 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 58
  5. The structure of the human thyrotropin beta-subunit gene. (PMID: 3243440) Tatsumi K … Matsubara K (Gene 1988) 2 3 4 58

Products for TSHB Gene

Sources for TSHB Gene

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