SLC16A2 - solute carrier family 16 member 2 Gene

Homo sapiens

Also known as AHDS; MCT7; MCT8; XPCT; MCT 7; MCT 8; MRX22; DXS128; DXS128E

Gene ID: 6567 | Gene type: protein coding

About SLC16A2

Cytogenetic location: Xq13.2 Genomic coordinates (GRCh38): X:74,421,493-74,533,916 (from NCBI)

This gene has 3 transcripts (splice variants), 258 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 21.4), adrenal (RPKM 17.4) and 22 other tissues.

Summary

This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [provided by RefSeq, Mar 2012]

SLC16A2 Products(1)

mRNA	Protein	Name
NM_006517.5	NP_006508.2	monocarboxylate transporter 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables amino acid transmembrane transporter activity	IDA IDA: Inferred from direct assay	26305885	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	19797118	GOA
enables thyroid hormone transmembrane transporter activity	IDA IDA: Inferred from direct assay	19022891	GOA
enables thyroid hormone transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	26426690	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amino acid import across plasma membrane	IDA IDA: Inferred from direct assay	26305885	GOA
acts upstream of amino acid metabolic process	IGI IGI: Inferred from genetic interaction	26305885	GOA
acts upstream of negative regulation of neural precursor cell proliferation	IMP IMP: Inferred from mutant phenotype	19022891	GOA
acts upstream of thyroid hormone metabolic process	IGI IGI: Inferred from genetic interaction	26305885	GOA
involved in thyroid hormone transport	IDA IDA: Inferred from direct assay	19022891	GOA
involved in thyroid hormone transport	IMP IMP: Inferred from mutant phenotype	26426690	GOA
involved in transport across blood-brain barrier	IMP IMP: Inferred from mutant phenotype	28526555	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	18687783	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19022891	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC16A2 Protein Structure

MFS_1

0
100
200
300
400
500
539 a.a.

Protein Preferred Names

Protein Names

monocarboxylate transporter 8

X-linked PEST-containing transporter

Related Diseases

Diseases

Alias

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

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Quadriplegia

Tetraplegia

Tetraplegias

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Hyperthyroidism

Overactive Thyroid

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

Deafness, Autosomal Recessive 62

DFNB62	Autosomal Recessive Nonsyndromic Deafness 62
Autosomal Recessive Deafness 62

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

Mixed Cerebral Palsy

Cerebral Palsy, Mixed

Hyperthyroxinemia

Neonatal Thyrotoxicosis

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Euthyroid Sick Syndrome

Euthyroid Sick Syndromes	Sick-Euthyroid Syndrome
Ess - [Euthyroid Sick Syndrome]	Low-T3 Syndrome
Ntis - [Non-Thyroidal Illness Syndrome]	Tscitus - [Thyroid Allostasis In Critical Illness, Tumours, Uraemia And Starvation]

Thyroid Crisis

Thyrotoxic Crisis	Thyroid Storm
Thyrotoxic Storm

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Spastic Paraplegia 2, X-Linked

SPG2	Hereditary Spastic Paraplegia 2
Sppx2	Spastic Paraplegia Type 2
Spastic Paraplegia 2	Hereditary X-Linked Recessive Spastic Paraplegia
X-Linked Spastic Paraplegia 2	X Linked Recessive Hereditary Spastic Paraplegia
Spastic Gait Type 2	Spastic Paraparesis Type 2
X-Linked Spastic Paraplegia Type 2	Spastic Paraplegia Type 2, X-Linked
Spastic Paraplegia-2	Paraplegia, Spastic, Type 2

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

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

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Hypotonia

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13024	SLC16A2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC16A2	VGNC	VGNC:65209
Bos taurus	SLC16A2	VGNC	VGNC:54485
Canis familiaris	SLC16A2	VGNC	VGNC:46241
Rattus norvegicus	SLC16A2	RGD	RGD:628608
Macaca mulatta	SLC16A2	VGNC	VGNC:77396
Mus musculus	SLC16A2	MGD	MGI:1203732
Others	SLC16A2	NCBI

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