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  2. SLC22A18 - solute carrier family 22 member 18 Gene

SLC22A18 - solute carrier family 22 member 18 Gene

中文名称:溶质载体家族 22 成员 18

种属: Homo sapiens

同用名: HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A

基因 ID: 5002 | 基因类型: protein coding

关于 SLC22A18

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:2,899,691-2,925,246 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 194 orthologues and is associated with 5 phenotypes. Broad expression in duodenum (RPKM 18.6), small intestine (RPKM 17.1) and 21 other tissues.

功能概要

该基因是位于 11p15.5 印迹基因域 (一个重要的肿瘤抑制基因区域) 的几个肿瘤抑制亚转移片段之一。该区域的改变与 Beckwith-Wiedemann 综合征、肾母细胞瘤、横纹肌肉瘤、肾上腺皮质癌以及肺癌、卵巢癌和乳腺癌有关。该基因被印记,优先从母系等位基因表达。已在肾母细胞瘤和肺癌中发现该基因的突变。这种蛋白质可能充当有机阳离子的转运蛋白,并在肾脏中转运氯喹和奎尼丁相关化合物方面发挥作用。已经描述了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2015 年 10 月]

This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast Cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung Cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]

SLC22A18 基因产物(4)

mRNA Protein Name
NM_001315501.2 NP_001302430.1 solute carrier family 22 member 18 isoform a
NM_001315502.2 NP_001302431.1 solute carrier family 22 member 18 isoform c
NM_002555.6 NP_002546.3 solute carrier family 22 member 18 isoform b
NM_183233.3 NP_899056.2 solute carrier family 22 member 18 isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
16314844 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in xenobiotic detoxification by transmembrane export across the plasma membrane IDA
IDA: 通过直接分析推断
9744804 GOA
involved in xenobiotic transport IDA
IDA: 通过直接分析推断
9744804 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
9744804 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16314844 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
16314844 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

SLC22A18 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (27 - 330)

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

solute carrier family 22 member 18

beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein

SLC22A18 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 SLC22A18 Q96BI1 HSD17B11 Homo sapiens Q8NBQ5
Y2H Prey Pooling
32296183
Intra SLC22A18 Q96BI1 HSD17B11 Homo sapiens Q8NBQ5
Y2H Array
32296183
Intra SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1
Validated Y2H
32296183
Intra SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
Intra SLC22A18 Q96BI1 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
Intra SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801
Y2H Array
32296183
Intra SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801
Y2H Prey Pooling
32296183
Intra SLC22A18 Q96BI1 NKX3-1 Homo sapiens Q99801
Validated Y2H
32296183
Intra SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320
Y2H Prey Pooling
32296183
Intra SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320
Validated Y2H
32296183
Intra SLC22A18 Q96BI1 TMX2 Homo sapiens Q9Y320
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
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Rhabdomyosarcoma, Embryonal, 1

Rhabdomyosarcoma 1

RMSE1

Rms1

Rhabdomyosarcoma, Somatic

Rhabdomyosarcoma Chromosomal Region

Rmscr

Rhabdomyosarcoma, Embryonal, Type 1

Rhabdomyosarcoma, Embryonal

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Hereditary Breast Cancer

Familial Breast Cancer

Familial Breast Carcinoma

Hereditary Breast Carcinoma

Rhabdomyosarcoma
Hepatoblastoma
Wilms Tumor 5

Wilms Tumor

WT5

Wilms Tumor Susceptibility-5

Wilms Tumor And Radial Bilateral Aplasia

Nephroblastoma

Wilms' Tumor

Wilms Tumor, Susceptibility To

Wtsl

Bilateral Radial Aplasia With Wilms Tumor

Embryonal Adenosarcoma

Embryonal Nephroma

Kidney Wilms Tumor

Kidney, Adenomyosarcoma, Embryonal

Kidney, Carcinosarcoma, Embryonal

Kidney, Embryoma

Kidney, Embryonal Mixed Tumor

Nephroma

Renal Adenosarcoma

Renal Cancer, Wilms

Renal Wilms Tumor

Tumor, Wilms

Hereditary Susceptibility To Wilms Tumor 5

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SLC22A18 VGNC VGNC:52047
Felis catus SLC22A18 VGNC VGNC:65243
Macaca mulatta SLC22A18 VGNC VGNC:101397
Bos taurus SLC22A18 VGNC VGNC:34726
Rattus norvegicus SLC22A18 RGD RGD:1303323
Mus musculus SLC22A18 MGD MGI:1336884