MPP4 MAGUK p55 scaffold protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPP4provided by HGNC
Official Full Name: MAGUK p55 scaffold protein 4provided by HGNC
Primary source: HGNC:HGNC:13680
See related: Ensembl:ENSG00000082126 MIM:606575; AllianceGenome:HGNC:13680
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DLG6; ALS2CR5
Summary: This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (201644874..201698644, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (202125526..202180790, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (202509597..202563367, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bipolar disorder participants with a history of Suicidal behavior showed less overall methylation in the 5' untranslated region of Membrane palmitoylated protein 4 .
Title: Investigation of correlations between DNA methylation, suicidal behavior and aging.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
MPP4 gene is highly expressed in retina, but no mutations were identified in a panel of 300 unrelated patients with retinitis pigmentosa.
Title: Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

G54443 (e-PCR)
- UniSTS:140834

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

STS-AA015930 (e-PCR)
- UniSTS:79251

RH79761 (e-PCR)
- UniSTS:90275

RH79562 (e-PCR)
- UniSTS:88746

G65696 (e-PCR)
- UniSTS:225490

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein localization to synapse	ISM Inferred from Sequence Model more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MAGUK p55 subfamily member 4

Names: amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein; discs large homolog 6; membrane palmitoylated protein 4; membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012654.2 RefSeqGene

Range

5000..58770

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_033066.3 → NP_149055.2 MAGUK p55 subfamily member 4

Status: REVIEWED

Source sequence(s)

AC007279

Consensus CDS

CCDS46491.1

UniProtKB/Swiss-Prot

C9IZK4, Q53TT3, Q6ZNH6, Q96JB8, Q96Q43, Q96Q44

UniProtKB/TrEMBL

E7EUL8, F8WDZ0

Related

ENSP00000387278.3, ENST00000409474.8

Conserved Domains (4) summary

smart00569
Location:90 → 140

L27; domain in receptor targeting proteins Lin-2 and Lin-7

cd12034
Location:246 → 306

SH3_MPP4; Src Homology 3 domain of Membrane Protein, Palmitoylated 4 (or MAGUK p55 subfamily member 4)

cd00992
Location:153 → 232

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cl27059
Location:428 → 618

Guanylate_kin; Guanylate kinase