TSHB (thyroid stimulating hormone subunit beta)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7252
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid stimulating hormone subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSHB
Synonyms (NCBI Gene) Gene synonyms aliases
TSH-B, TSH-BETA
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
Summary Summary of gene provided in NCBI Entrez 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 a
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs121918668 G>A Pathogenic Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121918669 G>A,T Pathogenic Missense variant, stop gained, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs121918670 C>T Likely-pathogenic Stop gained, coding sequence variant
rs755485552 T>- Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs868637545 G>A Pathogenic Intron variant, genic upstream transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT030150 hsa-miR-26b-5p Microarray 19088304
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
GATA2 Unknown 17244762
LHX2 Activation 22535646
POU1F1 Activation 7529501
POU1F1 Unknown 12655183;16901973;9167960;9207961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005179 Function Hormone activity IEA
GO:0005179 Function Hormone activity TAS 2792087
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
188540 12372 ENSG00000134200
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P01222
Protein name Thyrotropin subunit beta (Thyroid-stimulating hormone subunit beta) (TSH-B) (TSH-beta) (Thyrotropin beta chain) (Thyrotropin alfa)
Protein function Indispensable for the control of thyroid structure and metabolism.
PDB 7T9I , 7UTZ , 7XW5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00007 Cys_knot 19 → 125 Cystine-knot domain Domain
Sequence
Sequence length 138
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Thyroid hormone synthesis
Regulation of lipolysis in adipocytes
Autoimmune thyroid disease 		  Glycoprotein hormones
Thyroxine biosynthesis
Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Isolated Thyroid-Stimulating Hormone Deficiency isolated thyroid-stimulating hormone deficiency rs755485552, rs121918668, rs121918669, rs121918670, rs868637545 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Hypothyroidism congenital hypothyroidism N/A N/A ClinVar
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 2824561
Congenital Hypothyroidism Associate 27362444, 31914441, 34200080
Hypothyroidism Associate 23363888, 25950606, 26735259, 27362444, 27603907, 28515030, 31166470, 31703413, 31914441, 8636437
Neoplasms Associate 25867808