SLC16A2 - solute carrier family 16 member 2 Gene

中文名称：溶质载体家族 16 成员 2

种属: Homo sapiens

同用名: AHDS; MCT7; MCT8; XPCT; MCT 7; MCT 8; MRX22; DXS128; DXS128E

基因 ID: 6567 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种完整的膜蛋白，可作为甲状腺激素的转运蛋白。编码的蛋白质促进甲状腺素 (T4) 、三碘甲状腺原氨酸 (T3) 、反向三碘甲状腺原氨酸 (rT3) 和二碘甲状腺原氨酸 (T2) 的细胞输入。该基因在许多组织中表达，可能在中枢神经系统的发育中起重要作用。该基因的功能丧失突变与男性的精神运动迟缓有关，而女性则没有神经缺陷和更温和的甲状腺缺陷表型。该基因易受 X 染色体失活的影响。该基因的突变是导致 Allan-Herndon-Dudley 综合症的原因。[RefSeq 提供，2012 年 3 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables amino acid transmembrane transporter activity	IDA IDA: 通过直接分析推断	26305885	GOA
enables identical protein binding	IDA IDA: 通过直接分析推断	19797118	GOA
enables thyroid hormone transmembrane transporter activity	IDA IDA: 通过直接分析推断	19022891	GOA
enables thyroid hormone transmembrane transporter activity	IMP IMP: 通过突变表型推断	26426690	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in amino acid import across plasma membrane	IDA IDA: 通过直接分析推断	26305885	GOA
acts upstream of amino acid metabolic process	IGI IGI: 通过遗传相互作用推断	26305885	GOA
acts upstream of negative regulation of neural precursor cell proliferation	IMP IMP: 通过突变表型推断	19022891	GOA
acts upstream of thyroid hormone metabolic process	IGI IGI: 通过遗传相互作用推断	26305885	GOA
involved in thyroid hormone transport	IDA IDA: 通过直接分析推断	19022891	GOA
involved in thyroid hormone transport	IMP IMP: 通过突变表型推断	26426690	GOA
involved in transport across blood-brain barrier	IMP IMP: 通过突变表型推断	28526555	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	18687783	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	19022891	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC16A2 蛋白结构

MFS_1

0
100
200
300
400
500
539 a.a.

蛋白主名

其他名称

monocarboxylate transporter 8

X-linked PEST-containing transporter

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13024	SLC16A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SLC16A2 - solute carrier family 16 member 2 Gene

关于 SLC16A2

功能概要

SLC16A2 基因产物(1)

SLC16A2 蛋白结构

关联疾病

直系同源

热门区域

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SLC16A2 - solute carrier family 16 member 2 Gene

关于 SLC16A2

功能概要

SLC16A2 基因产物(1)

SLC16A2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z