TSHB

Protein identityUniProt · HPA

UniProt accession

P01222

Gene

TSHB

Ensembl

ENSG00000134200

Chromosome

1

Canonical length

138 aa

Protein class

Disease related genes, Human disease related genes, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

138 residues, UniProt reviewed canonical sequence.

>P01222|TSHB
     1  MTALFLMSML FGLTCGQAMS FCIPTEYTMH IERRECAYCL TINTTICAGY CMTRDINGKL
    61  FLPKYALSQD VCTYRDFIYR TVEIPGCPLH VAPYFSYPVA LSCKCGKCNT DYSDCIHEAI
   121  KTNYCTKPQK SYLVGFSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSHB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.42

Highest tissue expression

1,603 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSHB.

Disease | AllUniProt

Conditions TSHB is implicated in, by any mechanism.

• Hypothyroidism, congenital, non-goitrous, 4 (CHNG4) MIM:275100

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 83 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Isolated thyroid-stimulating hormone deficiency
• TSHB-related disorder
• Pituitary hypothyroidism

ReferencesPubMed · IEDB

Publications for TSHB from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.81

gnomAD pLI

0.01

gnomAD missense Z

0.3

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell-cell signaling
• G protein-coupled receptor signaling pathway

Molecular functions

• hormone activity

Cellular components

• cytoplasm
• extracellular region
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Gonadotropin, beta subunit
• Glycoprotein hormone subunit beta
• Gonadotropin, beta subunit, conserved site
• Cystine-knot cytokine
• Cystine-knot domain

KeywordsUniProt

• Congenital hypothyroidism
• Disulfide bond
• Glycoprotein
• Hormone
• Pharmaceutical
• Secreted
• Signal