1. Gene
  2. LRP12 - LDL receptor related protein 12 Gene

LRP12 - LDL receptor related protein 12 Gene

中文名称:LDL 受体相关蛋白 12

种属: Homo sapiens

同用名: ST7; MIG13A

基因 ID: 29967 | 基因类型: protein coding

关于 LRP12

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:104,489,236-104,589,258 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 1 phenotype. Ubiquitous expression in endometrium (RPKM 9.3), brain (RPKM 7.5) and 25 other tissues.

功能概要

该基因编码低密度脂蛋白受体相关蛋白家族的成员。该基因的产物是一种在许多癌细胞中差异表达的跨膜蛋白。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 2 月]

This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many Cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

LRP12 基因产物(2)

mRNA Protein Name
NM_001135703.3 NP_001129175.1 low-density lipoprotein receptor-related protein 12 isoform b precursor
NM_013437.5 NP_038465.1 low-density lipoprotein receptor-related protein 12 isoform a precursor

LRP12 蛋白结构

CUB

CUB: CUB domain (47 - 156)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (164 - 200)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (214 - 254)

CUB

CUB: CUB domain (259 - 369)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (451 - 485)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 859 a.a.
蛋白主名 其他名称

low-density lipoprotein receptor-related protein 12

LDLR-related protein 12

重组 LRP12 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70946 LRP-12 Protein, Human (HEK293, His) Q9Y561-1 (E33-I488) ≥95%

关联疾病

疾病名称 别名
Oculopharyngodistal Myopathy 1

Oculopharyngodistal Myopathy

Opdm

OPDM1

Faciooculolaryngopharyngeal Myopathy With Distal And Respiratory Involvement

Folp-Dr

Oculopharyngeal Distal Myopathy

Myopathy, Oculopharyngodistal

Myopathy, Oculopharyngodistal, Type 1

Neuronal Intranuclear Inclusion Disease

NIID

Neuronal Intranuclear Hyaline Inclusion Disease

Retinitis Pigmentosa 62

RP62

Retinitis Pigmentosa, Type 62

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Fatal Infantile Hypertonic Myofibrillar Myopathy
Myopathy

Muscular Diseases

Myopathies

Epilepsy, Familial Adult Myoclonic, 3

FAME3

Fcmte3

Cortical Myoclonic Tremor With Epilepsy, Familial, 3

Familial Adult Myoclonic Epilepsy 3

Familial Cortical Myoclonic Tremor And Epilepsy 3

Epilepsy, Myoclonic, Familial Adult, Type 3

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Oculopharyngeal Muscular Dystrophy

OPMD

Muscular Dystrophy, Oculopharyngeal

Dystrophy, Oculopharyngeal Muscular

Oculopharyngeal Dystrophy

Progressive Muscular Dystrophy, Oculopharyngeal Type

Muscular Dystrophy Oculopharyngeal

Dystrophy, Muscular, Oculopharyngeal

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 LRP12 VGNC VGNC:59046
Mus musculus LRP12 MGD MGI:2443132
Rattus norvegicus LRP12 RGD RGD:1304943
Macaca mulatta LRP12 VGNC VGNC:74410
Bos taurus LRP12 VGNC VGNC:30989
Others LRP12 NCBI