MPP3 - MAGUK p55 scaffold protein 3 Gene

Homo sapiens

Also known as DLG3

Gene ID: 4356 | Gene type: protein coding

About MPP3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:43,800,811-43,833,146 (from NCBI)

This gene has 9 transcripts (splice variants), 275 orthologues and 7 paralogues. Broad expression in heart (RPKM 3.1), lung (RPKM 2.5) and 23 other tissues.

Summary

This gene product 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. This protein 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. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

MPP3 Products(3)

mRNA	Protein	Name
NM_001330233.2	NP_001317162.1	MAGUK p55 subfamily member 3 isoform 2
NM_001353080.2	NP_001340009.1	MAGUK p55 subfamily member 3 isoform 3
NM_001932.6	NP_001923.2	MAGUK p55 subfamily member 3 isoform 1

MPP3 Protein Structure

L27

PDZ

SH3_2

Guanylate_kin

0
100
200
300
400
500
585 a.a.

Protein Preferred Names

Protein Names

MAGUK p55 subfamily member 3

discs, large homolog 3

Related Diseases

Diseases

Alias

Non-Syndromic X-Linked Intellectual Disability 90

Mrx90

Chromosome 3q29 Deletion Syndrome

Chromosome 3q29 Microdeletion Syndrome	3q29 Microdeletion Syndrome
3q Subtelomere Deletion Syndrome	3q29 Recurrent Deletion
3qter Deletion	3q29 Deletion Syndrome
Monosomy 3q29	Microdeletion 3q29 Syndrome
Del(3)(Q29)	Monosomy 3qter
3q29 Deletion	Del3q29

Immunodeficiency 46

Tfrc-Related Combined Immunodeficiency	IMD46
Cid Due To Tfrc Deficiency	Combined Immunodeficiency Due To Tfrc Deficiency

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08624	MPP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MPP3	VGNC	VGNC:74921
Bos taurus	MPP3	VGNC	VGNC:55850
Rattus norvegicus	MPP3	RGD	RGD:620015
Mus musculus	MPP3	MGD	MGI:1328354
Felis catus	MPP3	VGNC	VGNC:97515
Canis familiaris	MPP3	VGNC	VGNC:43344

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