1. Gene
  2. LPIN2 - lipin 2 Gene

LPIN2 - lipin 2 Gene

中文名称:立平 2

种属: Homo sapiens

基因 ID: 9663 | 基因类型: protein coding

关于 LPIN2

Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:2,916,994-3,013,144 (from NCBI)

This gene has 9 transcripts (splice variants), 270 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 28.7), duodenum (RPKM 22.4) and 25 other tissues.

功能概要

小鼠研究表明,该基因在正常脂肪组织发育过程中发挥作用,并可能在人体甘油三酯代谢中发挥作用。该基因代表了人类脂肪代谢障碍的候选基因,其特征是体脂减少、脂肪肝、高甘油三酯血症和胰岛素抵抗。[RefSeq 提供,2008 年 7 月]

Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and Insulin resistance. [provided by RefSeq, Jul 2008]

LPIN2 基因产物(3)

mRNA Protein Name
NM_001375808.2 NP_001362737.1 phosphatidate phosphatase LPIN2
NM_001375809.1 NP_001362738.1 phosphatidate phosphatase LPIN2
NM_014646.2 NP_055461.1 phosphatidate phosphatase LPIN2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidate phosphatase activity EXP
EXP: 通过实验结果推断
18694939 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

LPIN2 蛋白结构

Lipin_N

Lipin_N: lipin, N-terminal conserved region (1 - 113)

LNS2

LNS2: LNS2 (Lipin/Ned1/Smp2) (685 - 841)

  • 0
  • 200
  • 400
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  • 800
  • 896 a.a.
蛋白主名 其他名称

phosphatidate phosphatase LPIN2

关联疾病

疾病名称 别名
Majeed Syndrome

MJDS

Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, And Neutrophilic Dermatosis

Cda And Crmo

Chronic Recurrent Multifocal Osteomyelitis, Congenital

Congenital Dyserythropoietic Anemia And Chronic Recurrent Multifocal Osteomyelitis

Dyserythropoietic Anemia, And Neutrophilic Dermatosis

Chronic Recurrent Multifocal Osteomyelitis-Congenital Dyserythropoietic Anemia-Neutrophilic Dermatosis Syndrome

Chronic Recurrent Multifocal Osteomyelitis With Congenital Dyserythropoietic Anemia And Neutrophilic Dermatosis

Chronic Recurrent Multifocal Osteomyelitis

Chronic Multifocal Osteomyelitis

CRMO

Cmo

Cno/Crmo

Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis

Osteomyelitis, Chronic Multifocal

Multifocal Osteomyelitis, Chronic

Chronic Osteomyelitis

Chronic Multifocal Osteomyelitis, Unspecified Site

Crmo - [Chronic Multifocal Osteomyelitis]

Chronic Osteomyelitis With Draining Sinus, Unspecified Site

Bone Fistula With Chronic Osteomyelitis

Osteomyelitis
Autoinflammatory Syndrome
Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia

Sapho Syndrome

Acquired Hyperostosis Syndrome

Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome

Synovitis Acne Pustulosis Hyperostosis Osteitis

Synovitis, Acne, Pustlosis, Hyperostosis, And Osteomyelitis

Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome

Synovitis, Acne, Pustulosis, Hyperostosis, And Osteitis Syndrome

Pustulo-Psoriatic Hyperostotic Spondylarthritis

Sapho - [Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis] Syndrome

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Miliaria Pustulosa
Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Neutrophilic Dermatosis, Acute Febrile

Sweet Syndrome

Acute Febrile Neutrophilic Dermatosis

Ss

AFND

Pyrin-Associated Autoinflammatory Disease

PAAND

Gomm-Button Disease

Sweet'S Syndrome

Gomm Button Disease

Sweets Syndrome

Acromelic Frontonasal Dysostosis

Sweet Disease

Periostitis
Pustulosis Of Palm And Sole

Psoriasis

Acropustulosis

Palmoplantar Pustulosis

Pustular Psoriasis Of The Palms And/Or Soles

Pustulosis Of Palms And Soles

Acrodermatitis Continua Of Hallopeau

Generalized Pustular Psoriasis

Pityriasis Rubra Pilaris

PRP

Devergie'S Disease

Prp - [Pityriasis Rubra Pilaris]

Polyposis Syndrome, Hereditary Mixed, 2

HMPS2

Hereditary Mixed Polyposis Syndrome 2

Polyposis Syndrome, Mixed Hereditary 2

Polyposis Syndrome, Hereditary Mixed, Type 2

Pyoderma Gangrenosum

Phagedenic Pyoderma

Phagedena Geometric

Mevalonic Aciduria

Mevalonate Kinase Deficiency

Mevalonicaciduria

Hyperimmunoglobulin D With Periodic Fever

MEVA

Complete Mevalonate Kinase Deficiency

Mva

Hyperimmunoglobulinemia D

Hyper Igd Syndrome

Periodic Fever, Dutch Type

Mkd

Aciduria, Mevalonic

Deficiency Of Mevalonate Kinase

Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Pyoderma
Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

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 LPIN2 VGNC VGNC:63269
Mus musculus LPIN2 MGD MGI:1891341
Bos taurus LPIN2 VGNC VGNC:30967
Rattus norvegicus LPIN2 RGD RGD:1304588
Macaca mulatta LPIN2 VGNC VGNC:74288
Canis familiaris LPIN2 VGNC VGNC:42752
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