1. Gene
  2. ABCC12 - ATP binding cassette subfamily C member 12 Gene

ABCC12 - ATP binding cassette subfamily C member 12 Gene

中文名称:ATP 结合盒亚家族 C 成员 12

种属: Homo sapiens

同用名: MRP9

基因 ID: 94160 | 基因类型: protein coding

关于 ABCC12

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:48,080,882-48,155,993 (from NCBI)

This gene has 14 transcripts (splice variants), 224 orthologues and 11 paralogues. Restricted expression toward testis (RPKM 3.1).

功能概要

该基因是 ATP 结合盒 (ABC) 转运蛋白超家族的成员,编码的蛋白质包含两个 ATP 结合域和 12 个跨膜区域。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族:ABC1、MDR/TAP、MRP、ALD、OABP、GCN20 和 White。该基因是参与多药耐药性的 MRP 亚家族的成员。该基因和另一个亚科成员在染色体 16q12.1 上首尾相连。该基因表达增加与乳腺癌有关。[RefSeq 提供,2008 年 7 月]

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast Cancer. [provided by RefSeq, Jul 2008]

ABCC12 基因产物(5)

mRNA Protein Name
NM_001392028.1 NP_001378957.1 ATP-binding cassette sub-family C member 12 isoform 2
NM_001393797.1 NP_001380726.1 ATP-binding cassette sub-family C member 12 isoform 3
NM_001393798.1 NP_001380727.1 ATP-binding cassette sub-family C member 12 isoform 4
NM_001393799.1 NP_001380728.1 ATP-binding cassette sub-family C member 12 isoform 5
NM_033226.3 NP_150229.2 ATP-binding cassette sub-family C member 12 isoform 1
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
17472575 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

ABCC12 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (125 - 389)

ABC_tran

ABC_tran: ABC transporter (496 - 630)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (796 - 1012)

ABC_tran

ABC_tran: ABC transporter (1137 - 1285)

  • 0
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  • 1200
  • 1359 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family C member 12

ATP-binding cassette transporter sub-family C member 12

关联疾病

疾病名称 别名
Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis

Paroxysmal Kinesigenic Dyskinesia

Dystonia 10

Familial Paroxysmal Kinesigenic Dyskinesia

Episodic Kinesigenic Dyskinesia

EKD1

Pkc

Pkd

Dyt10

Familial Pkd

Paroxysmal Kinesigenic Choreathetosis

Familial Paroxysmal Dystonia

Dystonia, Familial Paroxysmal

Dyt-Prrt2

Dystonia, Type 10

Dubin-Johnson Syndrome

DJS

Chronic Idiopathic Jaundice

Jaundice, Chronic Idiopathic

Hyperbilirubinemia, Dubin-Johnson Type

Hyperbilirubinemia Ii

Hyperbilirubinemia Type 2

Conjugated Hyperbilirubinemia

Dubin-Sprinz Disease

Sprinz-Nelson Syndrome

Hblrdj

Dubin Johnson Syndrome

Hyperbilirubinemia 2

Black Liver-Jaundice Syndrome

Chronic Idiopathic Jaundice With Pigmented Liver

Dubin-Sprinz Syndrome

Hyperbilirubinaemia Type 2

Djs - [Dubin-Johnson Syndrome]

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

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

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
Felis catus ABCC12 VGNC VGNC:59470
Mus musculus ABCC12 MGD MGI:2441679
Bos taurus ABCC12 VGNC VGNC:25471
Macaca mulatta ABCC12 VGNC VGNC:69404
Rattus norvegicus ABCC12 RGD RGD:735100
Canis familiaris ABCC12 VGNC VGNC:37439