2. Gene
  3. SLC16A12 - solute carrier family 16 member 12 Gene

SLC16A12 - solute carrier family 16 member 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 16 成员 12

种属: Homo sapiens

同用名: CJMG; CRT2; MCT12; CTRCT47

基因 ID: 387700 | 基因类型: protein coding

关于 SLC16A12

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,430,299-89,556,704 (from NCBI)

This gene has 2 transcripts (splice variants), 302 orthologues, 13 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 36.5), placenta (RPKM 6.6) and 1 other tissue.

功能概要

该基因编码的跨膜转运蛋白可能在单羧酸转运中发挥作用。该基因的突变与伴有小角膜和肾性糖尿的青少年白内障有关。[RefSeq 提供，2010 年 3 月]

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]

SLC16A12 基因产物(1)

mRNA Protein Name
NM_213606.4 NP_998771.3 monocarboxylate transporter 12
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 creatine transmembrane transporter activity IDA
IDA: 通过直接分析推断
23578822 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables uniporter activity IDA
IDA: 通过直接分析推断
32249133 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in creatine transmembrane transport IDA
IDA: 通过直接分析推断
23578822 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
21778275 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

SLC16A12 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (26 - 322)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 486 a.a.
蛋白主名 其他名称

monocarboxylate transporter 12

creatine transporter 2

SLC16A12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC16A12 Q6ZSM3 FXYD3 Homo sapiens Q14802-3
Y2H Array
32296183
Intra SLC16A12 Q6ZSM3 FXYD3 Homo sapiens Q14802-3
Y2H Prey Pooling
32296183
Intra SLC16A12 Q6ZSM3 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra SLC16A12 Q6ZSM3 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra SLC16A12 Q6ZSM3 GJA8 Homo sapiens P48165
Y2H Prey Pooling
32296183
Intra SLC16A12 Q6ZSM3 GJA8 Homo sapiens P48165
Y2H Array
32296183
Intra SLC16A12 Q6ZSM3 CD79A Homo sapiens P11912
Y2H Prey Pooling
32296183
Intra SLC16A12 Q6ZSM3 CD79A Homo sapiens P11912
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cataract 47

CTRCT47

Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome

Cataract, Juvenile, With Microcornea And Glucosuria

Cataract, Juvenile, With Microcornea

Cataract 47, Juvenile, With Microcornea

Cataract, Juvenile, With Microcornea And Glucosuria, Formerly

Cjmg, Formerly

Juvenile Cataract-Microcornea-Renal Glycosuria Syndrome

Cjmg

Cataract, Type 47, Juvenile, With Microcornea
Renal Glucosuria

Renal Glycosuria

Familial Renal Glucosuria

GLYS

Glys1

Glycosuria, Renal

Glucosuria, Renal

Renal Diabetes

Familial Renal Glycosuria

Sglt2 Deficiency

Gly

Diabetes Renal
Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1
Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3

RIEG3

Anterior Chamber Cleavage Syndrome

Anterior Segment Mesenchymal Dysgenesis

Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Axenfeld-Rieger Anomaly

Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome 3

Axenfeld Anomaly

Rieger Anomaly

Rieger Syndrome

Rieger Eye Malformation Sequence
Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13021 SLC16A12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC16A12 RGD RGD:1311468
Bos taurus SLC16A12 VGNC VGNC:34686
Macaca mulatta SLC16A12 VGNC VGNC:77559
Felis catus SLC16A12 VGNC VGNC:65206
Canis familiaris SLC16A12 VGNC VGNC:46238
Mus musculus SLC16A12 MGD MGI:2147716
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