1. Gene
  2. THRA - thyroid hormone receptor alpha Gene

THRA - thyroid hormone receptor alpha Gene

Homo sapiens

Also known as AR7; EAR7; ERBA; CHNG6; ERBA1; NR1A1; THRA1; THRA2; c-erbA; ERB-T-1; TRalpha; THRalpha; TRalpha1; TRalpha2; c-ERBA-1; THRalpha1; THRalpha2

Gene ID: 7067 | Gene type: protein coding

About THRA

Cytogenetic location: 17q21.1 Genomic coordinates (GRCh38): 17:40,062,193-40,093,867 (from NCBI)

This gene has 10 transcripts (splice variants), 460 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 66.6), ovary (RPKM 38.9) and 23 other tissues.

Summary

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

THRA Products(4)

mRNA Protein Name
NM_001190918.2 NP_001177847.1 thyroid hormone receptor alpha isoform 3
NM_001190919.2 NP_001177848.1 thyroid hormone receptor alpha isoform 2
NM_003250.6 NP_003241.2 thyroid hormone receptor alpha isoform 2
NM_199334.5 NP_955366.1 thyroid hormone receptor alpha isoform 1

THRA Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (52 - 121)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (210 - 358)

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  • 490 a.a.
Protein Preferred Names Protein Names

thyroid hormone receptor alpha

EAR-7

Related Diseases

Diseases Alias
Hypothyroidism, Congenital, Nongoitrous, 6

CHNG6

Congenital Nongoitrous Hypothyroidism 6

Hypothyroidism, Congenital, Non-Goitrous, 6

Hypothyroidism, Congenital, Nongoitrous, Type 6

Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha

Rtha

Resistance To Thyroid Hormone Alpha

Resistance To Thyroid Hormone Due To A Mutation In Tra

Hyperthyroxinemia
Bone Giant Cell Tumor

Giant Cell Tumor Of Bone

Osteoclastoma

Gct Of Bone

Bone Giant Cell Tumour

Giant Cell Myeloma

Giant Cell Neoplasm Of Bone

Giant Cell Tumour Of Bone

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Thyroid Hormone Resistance Syndrome

Thyroid Hormone Resistance

GRTHD

Gthr

Thyroid Hormone Unresponsiveness

Generalized Thyroid Hormone Resistance

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Thyroid Hormones

Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Refetoff Syndrome

Thyroid Hormone Responsiveness Defect

Familial Euthyroid Hyperthyroxinemia, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones

Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Erythroleukemia
Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Neonatal Thyrotoxicosis
Thyroid Hormone Resistance, Selective Pituitary

PRTH

Selective Pituitary Thyroid Hormone Resistance

Selective Pituitary Resistance To Thyroid Hormone

Familial Hyperthyroidism Due To Inappropriate Thyrotropin Secretion

Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion

Pituitary Resistance To Thyroid Hormone

Allan-Herndon-Dudley Syndrome

AHDS

Allan-Herndon Syndrome

Monocarboxylate Transporter 8 Deficiency

MCT8 DEFICIENCY

Mental Retardation, X-Linked, With Hypotonia

Triiodothyronine Resistance

T3 Resistance

Mental Retardation And Muscular Atrophy

Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Intellectual Disability And Muscular Atrophy

Monocarboxylate Transporter-8 Deficiency

T3 Resisitence

Triiodothyronine Resistence

X-Linked Intellectual Disability With Hypotonia

Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

Monocarboxylate Transporter 8 Deficiency

X-Linked Intellectual Disability-Hypotonia Syndrome

Thrombasthenia
Graves Disease 1

Thyrotoxicosis

Graves Disease, Susceptibility To, 1

GRD1

Grd

Hyperthyroidism, Autoimmune

Hyperthyroidism

Hyperactive Thyroid Gland

Overactive Thyroid

Toxic Diffuse Goitre

Toxic Primary Thyroid Hyperplasia

Stokes Disease

Thyrotoxicosis With Goitre

Thyrotoxicosis Struma

Graves Disease

Goitre With Hyperthyroidism

Basedow Disease

Exophthalmic Goitre

Exophthalmic Struma

Flajani Disease

Graves Disease With Exophthalmos

Hyperthyroid Goitre

Hyperthyroidism Struma

Thyroid Exophthalmos

Malignant Exophthalmos

Parry Disease

Toxic Diffuse Goitre With Exophthalmos

Toxic Goitre

Toxic Goitre Nos

Thyrotoxicosis Due To Uninodular Goitre

Toxic Thyroid Nodule

Toxic Uninodular Goitre

Uninodular Toxic Struma

Uninodular Toxic Struma With Hyperthyroidism

Thyrotoxicosis Due To Single Thyroid Nodule

Toxic Uninodular Goitre With Hyperthyroidism

Hyperthyroidism With Thyroid Nodule

Thyrotoxicosis With Toxic Uninodular Goitre

Uninodular Goitre In Hyperthyroidism

Uninodular Goitre In Thyrotoxicosis

Toxic Multinodular Goitre

Multinodular Goitre With Thyrotoxicosis

Thyrotoxicosis Nodular Goitre

Nodular Goitre With Thyrotoxicosis

Adenomatous Goitre With Hyperthyroidism

Multinodular Goitre With Hyperthyroidism

Nodular Goitre With Hyperthyroidism

Nodular Struma With Hyperthyroidism

Plummer Disease

Thyrotoxicosis Adenomatous Goitre

Thyrotoxicosis Adenomatous Struma

Toxic Adenomatous Goitre

Toxic Adenomatous Struma

Toxic Nodular Goitre Nos

Toxic Struma Nodosa

Toxic Nodular Struma

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Acute Erythroid Leukemia

Acute Erythroleukemia

Di Guglielmo'S Syndrome

Aml M6

Acute Myeloid Leukemia Fab-M6

Acute Myeloid Leukemia M6

Erythroleukemia

Aml-M6

Acute Erythroleukemia M6a Subtype

Acute Erythroleukemia M6b Subtype

Di Guglielmo Syndrome

Acute Myeloid Leukemia, M6 Type

Acute Erythroblastic Leukemia

Acute Erythroleukemia - M6a Subtype

Acute Erythroleukemia - M6b Subtype

Acute Erythraemia And Erythroleukaemia

Acute Erythroid Leukaemia Without Mention Of Remission

Erythraemia

Erythraemic Myelosis

Erythroleukaemia

Acute Erythraemic Myelosis

Acute Erythraemia

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus THRA VGNC VGNC:35845
Rattus norvegicus THRA RGD RGD:3857
Mus musculus THRA MGD MGI:98742
Macaca mulatta THRA VGNC VGNC:78349
Canis familiaris THRA VGNC VGNC:55828
Felis catus THRA VGNC VGNC:66172
Others THRA NCBI