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  2. PLIN2 - perilipin 2 Gene

PLIN2 - perilipin 2 Gene

中文名称:脂蛋白 2

种属: Homo sapiens

同用名: ADFP; ADRP

基因 ID: 123 | 基因类型: protein coding

关于 PLIN2

Cytogenetic location: 9p22.1 Genomic coordinates (GRCh38): 9:19,108,388-19,127,492 (from NCBI)

This gene has 8 transcripts (splice variants), 226 orthologues and 4 paralogues. Broad expression in liver (RPKM 234.7), placenta (RPKM 77.4) and 16 other tissues.

功能概要

由该基因编码的蛋白质属于 perilipin 家族,其成员覆盖细胞内脂质储存液滴。这种蛋白质与脂质球表面膜物质有关,可能参与脂肪组织的发育和维持。然而,它并不像以前认为的那样仅限于脂肪细胞,而是存在于广泛的培养细胞系中,包括成纤维细胞、内皮细胞和上皮细胞以及组织,例如哺乳期乳腺、肾上腺皮质、Sertoli 和 Leydig 细胞,以及酒精性肝硬化中的肝细胞,表明它可以作为多种细胞类型和疾病中脂质积累的标志物。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2011 年 3 月]

The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]

PLIN2 基因产物(1)

mRNA Protein Name
NM_001122.4 NP_001113.2 perilipin-2

PLIN2 蛋白结构

Perilipin

Perilipin: Perilipin family (7 - 396)

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

perilipin-2

adipophilin

重组 PLIN2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P79028 PLIN2 Protein, Human (Biotinylated, His) Q99541 (M1-H437) ≥95%

关联疾病

疾病名称 别名
Sebaceous Adenocarcinoma

Sebaceous Carcinoma

Adenocarcinoma Of The Sebaceous Gland

Malignant Neoplasm Of Sebaceous Gland

Malignant Sebaceous Tumor

Adenocarcinoma, Sebaceous

Malignant Sebaceous Neoplasm

Sebaceous Gland Neoplasms

Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Meibomian Cyst

Chalazion

Meibomian Gland Lipogranuloma

Tarsal Cyst

Eyelid Benign Neoplasm

Tumor Of The Eyelid

Eyelid Neoplasms

Eyelid Neoplasm

Lipid-Rich Carcinoma
Sebaceous Gland Neoplasm

Sebaceous Gland Neoplasms

Sebaceous Neoplasm

Alcoholic Liver Cirrhosis

Alcoholic Cirrhosis

Portal Cirrhosis

Alcoholic Cirrhosis Of Liver

Liver Cirrhosis, Alcoholic

Laennec'S Cirrhosis

Laennec'S Cirrhosis, Alcoholic

Alcohol Cirrhosis

Alcoholic Laennec Cirrhosis

Alcoholic Cirrhosis Nos

Etoh Cirrhosis

Alcohol Hepatic Cirrhosis

Alcohol Liver Cirrhosis

Laennec Cirrhosis

Sebaceous Adenoma

Adenoma Of The Sebaceous Gland

Skin Appendage Sebaceous Adenoma

Acrodermatitis
Kidney Cancer

Renal Cancer

Renal Carcinoma

Kidney Neoplasm

Malignant Neoplasm Of Kidney Except Pelvis

Malignant Tumour Of Kidney

Kidney Neoplasms

Cancer, Kidney

Cancer, Renal

Malignant Neoplasm Of Kidney

Renal Cell Carcinoma

Muir-Torre Syndrome

MRTES

Keratoacanthoma

Muir-Torré Syndrome

Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

Multiple Keratoacanthoma, Muir-Torre Type

Mts

Torre-Muir Syndrome

Aggressive Digital Papillary Adenocarcinoma
Adenoid Basal Cell Carcinoma

Skin Adenoid Basal Cell Carcinoma

Basal Cell Carcinoma - Adenoid

Blepharoconjunctivitis
Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Diabetes Mellitus

Diabetes

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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
Mus musculus PLIN2 MGD MGI:87920
Canis familiaris PLIN2 VGNC VGNC:44691
Felis catus PLIN2 VGNC VGNC:64240
Bos taurus PLIN2 VGNC VGNC:33030
Rattus norvegicus PLIN2 RGD RGD:728889