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

LRP12 - LDL receptor related protein 12 Gene

Homo sapiens

Also known as ST7; MIG13A

Gene ID: 29967 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12809483 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within neuron migration IDA
IDA: Inferred from direct assay
26639854 GOA
acts upstream of or within neuron projection development IDA
IDA: Inferred from direct assay
26639854 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
12809483 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRP12 Protein Structure

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.
Protein Preferred Names Protein Names

low-density lipoprotein receptor-related protein 12

LDLR-related protein 12

Recombinant LRP12 Proteins

Cat. No. Product Name Accession Purity
HY-P70946 LRP-12 Protein, Human (HEK293, His) Q9Y561-1 (E33-I488) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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