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FLASH GENE

Symbol

THRB

contributors: mct/ - updated : 12-06-2015

HGNC name	thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
HGNC id	11799

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	377.67 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	two different proteins by use of a different promoter (beta1 and beta2)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see PTPRG

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001128176 11 splicing 7480 NP_001121648 - 461 . fibroblasts, brain, pituitary, adrenal gland, placenta, muscle, thyroid and lymphocytes . restricted to some specific organs, including the pituitary and hypothalamus 2004 15233549 TRbeta2 NM_000461 10 splicing 7416 NP_000452 - 461 fibroblasts, brain, pituitary, adrenal gland, placenta, muscle, thyroid and lymphocytes 2004 15233549 TRbeta1 NM_001128177 11 - 7553 NP_001121649 - 461 - 2004 15233549 TRbeta4 - - - 29.5 259 . expressed in various human tissues, and especially abundant in testis and skeletal muscle 2010 20470753 a 137-bp insertion, which contains a stop codon in the middle, between the 5th and 6th exons that encode the ligand-binding domain C-terminal splicing variant of TRbeta1 unable to bind thyroid hormone (T3) may modulate hormone action as an endogenous antagonist in the tissue or cellular context

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear       highly Reproductive female system breast mammary gland   highly Urinary bladder       highly Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Visual cone photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	inner ear, retina (green cone photoreceptors)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal modulator domain
	a central bipartite (class II) zinc finger DNA binding domain
	a C terminal ligand domain

HOMOLOGY

interspecies

homolog to murine Thbr

Homologene

FAMILY	steroid/thyroid hormone receptor superfamily
	nuclear hormone receptor family

CATEGORY

transcription factor , signaling hormone , receptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	essential for inner ear development and color vision
	tumor suppressor in thyroid tissue, whose inactivation through aberrant methylation may be a relevant event in the tumorigenesis of differentiated thyroid cancer, particularly follicular thyroid cancer
	role (direct and/or indirect) in chromatin remodeling that leads to permanent gene silencing in terminally differentiated, dorsal cone photoreceptors
	regulates important events of cerebellar ontogenesis contributing to a better understanding of some neuroendocrine disorders
	THRB and NCOA4 regulate terminal erythrocyte differentiation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

hormonal

thyroid

a component

INTERACTION

DNA

RNA

small molecule

protein	necessary for dorsal repression, but not ventral activation of S opsin (OPN1SW)
	Zn-finger region of GATA2 (GATA2-Zf) has an important role in down-regulation of the thyrotropin gene (TSHB) by liganded thyroid hormone receptor (THRB)
	thyroid hormone (TH), a regulator of hepatic gluconeogenesis acts through its nuclear receptor (THRA, THRB) to induce the expression of PCK1 and G6PC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GHTR , THRB

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   dysregulated in breast cancer tumoral     --low   in follicular thyroid cancer tumoral     --low   hypermethylation of THRB as an alternative gene silencing mechanism is highly prevalent in breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual   inhibition of THRA, THRB locally in the retina is a therapeutic strategy for retinal degeneration

ANIMAL & CELL MODELS

mice with a targeted mutation exhibit impaired growth and resistance to THR