MPP2 - MAGUK p55 scaffold protein 2 Gene

Also Known as DLG2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4355

About MPP2

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,875,360-43,909,711 (from NCBI)

This gene has 20 transcripts (splice variants), 273 orthologues and 7 paralogues. Biased expression in brain (RPKM 9.3), testis (RPKM 5.8) and 12 other tissues.

Summary

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the Cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (Src homology 3) motif, found in several Other proteins that associate with the Cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]

MPP2 Products (9)

mRNA Protein Name
NM_001278370.2 NP_001265299.1 MAGUK p55 subfamily member 2 isoform 1
NM_001278371.2 NP_001265300.1 MAGUK p55 subfamily member 2 isoform 2
NM_001278372.2 NP_001265301.1 MAGUK p55 subfamily member 2 isoform 4
NM_001278373.2 NP_001265302.1 MAGUK p55 subfamily member 2 isoform 2
NM_001278374.2 NP_001265303.1 MAGUK p55 subfamily member 2 isoform 6
NM_001278375.2 NP_001265304.1 MAGUK p55 subfamily member 2 isoform 2
NM_001278376.3 NP_001265305.2 MAGUK p55 subfamily member 2 isoform 8
NM_001278381.2 NP_001265310.1 MAGUK p55 subfamily member 2 isoform 3
NM_005374.5 NP_005365.4 MAGUK p55 subfamily member 2 isoform 3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19665017 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoskeleton IDA
IDA: Inferred from direct assay
19665017 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

MPP2 Protein Structure

L27

L27: L27 domain (11 - 51)

L27

L27: L27 domain (92 - 144)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (171 - 239)

SH3_2

SH3_2: Variant SH3 domain (253 - 314)

Guanylate_kin

Guanylate_kin: Guanylate kinase (374 - 562)

  • 0
  • 100
  • 200
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  • 400
  • 500
  • 576 a.a.
Protein Preferred Names Protein Names

MAGUK p55 subfamily member 2

  • discs large, homolog 2

Related Diseases

Diseases Alias
Danon Disease
  • Pseudoglycogenosis Ii

  • Antopol Disease

  • Glycogen Storage Disease Iib

  • Glycogen Storage Disease Type 2b

  • Glycogen Storage Disease Type Iib

  • Gsd2b

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

  • Vacuolar Cardiomyopathy And Myopathy X-Linked

  • Vacuolar Cardiomyopathy And Myopathy, X-Linked

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

  • Gsd2b, Formerly

  • Gsd Iib, Formerly

  • Glycogen Storage Cardiomyopathy

  • Glycogen Storage Disease Limited To The Heart

  • Pseudoglycogenosis 2

  • X-Linked Vacuolar Cardiomyopathy And Myopathy

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase

  • Glycogen Storage Disease Due To Lamp-2 Deficiency

  • Gsd Due To Lamp-2 Deficiency

  • Glycogenosis Due To Lamp-2 Deficiency

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

  • DAND

  • Gsd-Iib

Tetanus
  • Lockjaw

  • Clostridial Tetanus

  • Infection Due To Clostridium Tetani

  • Lock-Jaw

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
  • Arrhythmogenic Right Ventricular Dysplasia 13

  • ARVD13

  • Arrhythmogenic Right Ventricular Cardiomyopathy 13

  • Arvc13

  • Familial Arrhythmogenic Right Ventricular Dysplasia 13

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13

Ehrlichiosis
  • Human Ehrlichiosis

  • He

  • Hey

Childhood Osteosarcoma
  • Pediatric Osteosarcoma

Myopathy
  • Muscular Diseases

  • Myopathies

Glycogen Storage Disease
  • Glycogenosis

  • Glycogenoses

  • Gsd

  • Storage Disease, Glycogen

  • Gsd - [Glycogen Storage Disease]

  • Glycogen Thesaurismosis

  • Diffuse Glycogenosis

  • Generalised Glycogen Storage Disease

  • Generalised Glycogenosis

  • Generalised Glycogen Storage Disease Of Infants

  • Glycogen Synthase Deficiency

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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
Felis catus MPP2 VGNC VGNC:97514
Mus musculus MPP2 MGD MGI:1858257
Canis familiaris MPP2 VGNC VGNC:43343
Macaca mulatta MPP2 VGNC VGNC:99171
Rattus norvegicus MPP2 RGD RGD:620014
Bos taurus MPP2 VGNC VGNC:31583
Others MPP2 NCBI