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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MPP5 Gene

protein-coding GIFtS: 60
GCID: GC14P067708

membrane protein, palmitoylated 5 (MAGUK p55 subfamily member...

Explore 11 diseases affiliated with
MPP5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5)¹ ²
PALS1¹ ² ⁵
FLJ12615¹
MAGUK P55 Subfamily Member 5²
Protein Associated With Lin Seven 1²
Stardust¹

External Ids:	HGNC: 18669¹	Entrez Gene: 64398²	Ensembl: ENSG00000072415⁷	OMIM: 606958⁵	UniProtKB: Q8N3R9³

Export aliases for MPP5 gene to outside databases

Previous GC identifers: GC14P065264 GC14P061501 GC14P065698 GC14P066777 GC14P047877

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MPP5:

This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene

superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate

myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice

which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289).

Multiple transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Feb 2012)

UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9

Function: May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells.

May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the

apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By

similarity)

Gene Wiki entry for MPP5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MPP5 gene promoter:
C/EBPbeta AML1a Bach2 NF-E2 p45 HNF-3beta C/EBPalpha S8 POU2F1 POU2F1a NF-E2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MPP5 promoter sequence

Search SABiosciences Chromatin IP Primers for MPP5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPP5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23.3 Ensembl cytogenetic band: 14q23.3 HGNC cytogenetic band: 14q23.3

MPP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPP5 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P067708: view genomic region (about GC identifiers)

Start:	67,707,826 bp from pter	End:	67,802,536 bp from pter
Size:	94,711 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9 (See protein sequence)

Recommended Name: MAGUK p55 subfamily member 5

Size: 675 amino acids; 77294 Da

Subunit: Interacts with CRB3, LIN7C and MPDZ. Interacts with INADL, PARD6B, SC6A1 and EZR (By similarity). Forms a

complex with CRB1 and MPP4. Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ

and PARD3/PAR3. Heterodimer with MPP1. Interacts with MPP7

Subcellular location: Cell membrane; Peripheral membrane protein. Endomembrane system; Peripheral membrane protein.

Cell junction, tight junction. Note=Localized to the tight junctions of epithelial cells and a subset of intracellular

vesicles. In the retina, detected at the outer limiting membrane (OLM), apical to the adherens junction (AJ), where it

colocalizes with CRB1. Colocalizes with MPP1 in the retina at the outer limiting membrane (OLM). Localized to the

Purkinje cell body and axon

Sequence caution: Sequence=AAH53366.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=BAB14172.1; Type=Erroneous initiation;

2 PDB 3D structures from and Proteopedia for MPP5:

1Y76 (3D)

3UIT (3D)

Secondary accessions: A1L380 Q7Z631 Q86T98 Q8N7I5 Q9H9Q0

Alternative splicing: 2 isoforms: Q8N3R9-1 Q8N3R9-2

Explore the universe of human proteins at neXtProt for MPP5: NX_Q8N3R9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N3R9

MPP5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001243479.1 NP_071919.2

ENSEMBL proteins:

ENSP00000261681 ENSP00000450550 ENSP00000451488 ENSP00000450656 ENSP00000451571

Reactome Protein details: Q8N3R9
Human Recombinant Protein Products for MPP5:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MPP5

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005886	plasma membrane	TAS	--
GO:0005923	tight junction	IEA	--
GO:0012505	endomembrane system	IEA	--
GO:0035749	myelin sheath adaxonal region	IEA	--

MPP5 for ontologies About GeneDecksing

MPP5 Antibody Products:

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	Uscn Antibodies for MPP5
	ThermoFisher Antibodies for MPP5

Assay Products for MPP5:

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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MPP5
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MPP5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MPP5 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR014775 L27_C

IPR001452 SH3_domain

IPR011511 SH3_2

Graphical View of Domain Structure for InterPro Entry Q8N3R9

ProtoNet protein and cluster: Q8N3R9

5 Blocks protein families:

IPB001452 SH3 domain signature

IPB001478 PDZ/DHR/GLGF domain

IPB004172 L27 domain

IPB008144 Guanylate kinase

IPB011511 Variant SH3

UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9

Domain: The L27 domain 1 functions in targeting to the tight junctions by binding to INADL (By similarity)

Domain: The PDZ domain binds to the C-terminus of SC6A1 (By similarity)

Similarity: Belongs to the MAGUK family

Similarity: Contains 1 guanylate kinase-like domain

Similarity: Contains 2 L27 domains

Similarity: Contains 1 PDZ (DHR) domain

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MPP5_HUMAN, Q8N3R9

Function: May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells.

May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the

apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By

similarity)

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17584769
GO:0019904	protein domain specific binding	IPI	17332497

MPP5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MPP5:

Increased cell death HMECs cel

11 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mpp5):

behavior/neurological	cellular	growth/size	hematopoietic system	immune system
integument	mortality/aging	nervous system	normal	reproductive system
vision/eye

MPP5 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MPP5

miRNA Products:		OriGene 3'-UTR Clone: MPP5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP5
		8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate MPP5 (see all 59):
		hsa-miR-3685 hsa-miR-302d hsa-miR-520e hsa-miR-607 hsa-miR-4307 hsa-miR-376b hsa-miR-429 hsa-miR-605

		SwitchGear 3'UTR luciferase reporter plasmid: MPP5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPP5 (see all 7) OriGene shRNA RFP: MPP5 OriGene siRNA: MPP5
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		Sirion Biotech Custom design and validation of potent shRNA sequences against MPP5

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell-cell junction organization

	Cell-cell junction organization	1.00			Tight junction interactions	0.49
	Cell junction organization	0.69			Cell-Cell communication	0.45

Tight junction

Tight junction

1.00

Sertoli-Sertoli Cell Junction Dynamics

Epithelial Tight Junctions

0.36

GABA A receptor activation

GABA signaling in brain

0.26

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MPP5

GABA signaling in brain

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MPP5

Epithelial Tight Junctions

4 Reactome Pathways for MPP5

	Tight junction interactions
	Cell junction organization
	Cell-Cell communication
	Cell-cell junction organization

1 Kegg Pathway (Kegg details for MPP5):

Tight junction

MPP5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MPP5

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/56 Interacting proteins for MPP5 (Q8N3R9^{2, 3} ENSP00000261681⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
INADL	Q8NI35²^,³, ENSP00000360200⁴	MINT-1774417 MINT-1774200 MINT-2843240 I2D: score=2 STRING: ENSP00000360200
CRB1	P82279²^,³, ENSP00000356370⁴	MINT-1774397 I2D: score=1 STRING: ENSP00000356370
AMOT	Q4VCS5³, ENSP00000361027⁴	I2D: score=3 STRING: ENSP00000361027
COPS5	Q92905³, ENSP00000350512⁴	I2D: score=1 STRING: ENSP00000350512
CRB3	Q9BUF7³, ENSP00000349204⁴	I2D: score=1 STRING: ENSP00000349204

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0032287	peripheral nervous system myelin maintenance	IEA	--
GO:0032288	myelin assembly	IEA	--
GO:0034329	cell junction assembly	TAS	--
GO:0035750	protein localization to myelin sheath abaxonal region	IEA	--
GO:0045216	cell-cell junction organization	TAS	--

MPP5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MPP5
Search CenterWatch for drugs/clinical trials and news about MPP5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MPP5 gene (2 alternative transcripts):

NM_001256550.1 NM_022474.3

Unigene Cluster for MPP5:

Membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)

Hs.652312 [show with all ESTs]

Unigene Representative Sequence: NM_022474

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000261681(uc001xjc.3 uc001xjd.3) ENST00000554911 ENST00000556345(uc001xjb.1)

ENST00000555925 ENST00000554208 ENST00000557783 ENST00000557237

miRNA Products:		OriGene 3'-UTR Clone: MPP5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP5
		8/59 QIAGEN miScript miRNA Assays for microRNAs that regulate MPP5 (see all 59):
		hsa-miR-3685 hsa-miR-302d hsa-miR-520e hsa-miR-607 hsa-miR-4307 hsa-miR-376b hsa-miR-429 hsa-miR-605

		SwitchGear 3'UTR luciferase reporter plasmid: MPP5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against MPP5

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Additional cDNA sequence:

AF131764.1 AK022677.1 AK098373.1 AK125287.1 AK291240.1 AL832326.1 AL832578.2 AL832936.1

BC053366.1 BC095485.1 BC129933.1

8 DOTS entries:

DT.40130249 DT.99953602 DT.451898 DT.120743111 DT.100817148 DT.207810 DT.40262646 DT.75156420

24/178 AceView cDNA sequences (see all 178):

BI789202 BQ776182 AA421725 H98871 CA413052 AA015949 AW955827 NM_022474

CA307850 AA577040 AA313893 N57638 CA420029 BF196689 AA422051 AU136207

AI424950 BC037966 AW055158 AA310313 BU165135 CR605794 AI768021 BM052978

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MPP5 About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15
SP1:									-
SP2:									-		-
SP3:							-		-		-
SP4:

ECgene alternative splicing isoforms for MPP5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MPP5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTAAGAAA

About this image
See MPP5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPP5

SOURCE GeneReport for Unigene cluster: Hs.652312

UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9

Tissue specificity: Expressed in the retina (at protein level)

SABiosciences Expression via Pathway-Focused PCR Array including MPP5:

Tight Junctions in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for MPP5 gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MPP5¹	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) less	82.67(n) 91.7(a)		423281 NM_001199705.1 NP_001186634.1
lizard (Anolis carolinensis)	Reptilia	MPP5⁶ GUK1⁶ (see all 3)	--	91(a) 26(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	GL343272.1(1254175-1290242) 6(3239249-3249911)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.4693²	Transcribed sequence with moderate similarity to protein refNP_071919.1 (H.sapiens) hypothetical protein FLJ12615 similar to membrane protein, palmi; hypothetical protein FLJ12615 similar to membrane protein, palmitoylated 3 (MAGUK p55 subfamily member less	77.84(n)		AL897334.2
zebrafish (Danio rerio)	Actinopterygii	nok²	nagie oko	72.84(n)		252845 AF510111.1
fruit fly (Drosophila melanogaster)	Insecta	sdt³	establishment and/or maintenance of epithelial cell polarity guanylate kinase less	50(a) (best of 2)		--
worm (Caenorhabditis elegans)	Secernentea	C01B7.4³ magu-2¹	guanylate kinase³ Protein MAGU-2¹	41(a)³ 46.28(n)¹ 36.41(a)¹		V(8795611-8798133)³ 3565703¹ NM_072864.3¹ NP_505265.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	GK-1⁶ AT3G06200⁶ (see all 3)	guanylate kinase (see all 3)	18(a) 17(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(17474619-17477223) 3(1877594-1879348)
rice (Oryza sativa)	Liliopsida	-- --	guanylate kinase, putative, expressed	18(a) 18(a)	possible ortholog possible ortholog	3(11594171-11597778) 12(20000190-20004313)
E. coli (Escherichia coli)	Gamma proteobacteria	gmk⁶	guanylate kinase	27(a)	possible ortholog	Chromosome(3819451-3820074)

ENSEMBL Gene Tree for MPP5 (if available)
TreeFam Gene Tree for MPP5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MPP5 gene

MPP6² MPP7² DLG3² DLG2² MPP2² MPP4² DLG4² DLG1²

CASK² MPP1² MPP3²

11 SIMAP similar genes for MPP5 using alignment to 4 protein entries: MPP5_HUMAN (see all proteins):

DKFZp666F1010 MPP7 MPP6 GUK1 DKFZp761P0818 MPP3

MPP2 DKFZp666D023 MPP1 MPP4 CASK

MPP5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139944099^1,2		--	67706066(+)	`TTTTTG/TATTGT`	2	--	us2k¹		0	--	--	--	--
rs202133957^1,2		--	67706272(+)	`ATGTT-/ATATAT`	2	--	us2k¹		0	--	--	--	--
rs112323832^1,2	C	--	67706425(+)	`AAAATC/TAGCCG`	2	--	us2k¹		1		NA	2
rs151185252^1,2		--	67706441(+)	`GGTGGC/TTGGCA`	2	--	us2k¹		0	--	--	--	--
rs192668277^1,2		--	67706560(+)	`AGAGCG/TAAACT`	2	--	us2k¹		0	--	--	--	--
rs140201273^1,2		--	67706910(+)	`CAAATA/CTGGGA`	2	--	us2k¹		0	--	--	--	--
rs184709956^1,2		--	67706914(+)	`TCTGGA/GAAGGG`	2	--	us2k¹		0	--	--	--	--
rs189177782^1,2		--	67707044(+)	`GAATGC/TGAAAG`	2	--	us2k¹		0	--	--	--	--
rs113070988^1,2	C	--	67707163(+)	`GACTGG/TGCCCC`	2	--	us2k¹		1		NA	2
rs180755508^1,2		--	67707621(+)	`TTTTTA/TAAAAA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MPP5 (67707826 - 67802536 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for MPP5
2 CNVs: 101973 8772
1 Indel: 11736

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MPP5 for disorders           About GeneDecksing

OMIM gene information: 606958    OMIM disorders: --

11 diseases for MPP5:    About MalaCards

open-angle glaucoma primary open angle glaucoma leber congenital amaurosis retinitis

retinal degeneration glaucoma twinning pneumonia

tuberculosis malaria mycobacterium tuberculosis

3 diseases from the University of Copenhagen DISEASES database for MPP5:

Leber congenital amaurosis Retinitis pigmentosa Lymphedema

1 Novoseek disease relationship for MPP5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinopathy	52.5	1	16519681 (1)

Export disorders for MPP5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MPP5 gene, integrated from 9 sources (see all 46):
(articles sorted by number of sources associating them with MPP5)

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The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PubMed id 11927608)^{1, 3, 9} Roh M.H.... Margolis B. (2002)
MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)^{1, 2, 9} Kantardzhieva A.... Wijnholds J. (2005)
The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. (PubMed id 17332497)^{1, 2} Stucke V.M....Hall A. (2007)
MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PubMed id 17584769)^{1, 2} Gosens I.... Roepman R. (2007)
A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)^{1, 2} Wells C.D.... Pawson T. (2006)
A unified assembly mode revealed by the structures of tetrameric L27 domain complexes formed by mLin-2/mLin-7 and Patj/Pals1 scaffold proteins. (PubMed id 15863617)^{1, 2} Feng W.... Zhang M. (2005)
Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina. (PubMed id 15558731)^{1, 2} Stoehr H.... Kraemer F. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 64398	HGNC: 18669	AceView: MPP5	Ensembl:ENSG00000072415	euGenes: HUgn64398
ECgene: MPP5	Kegg: 64398	H-InvDB: MPP5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MPP5	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MPP5	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MPP5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MPP5 gene:
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GeneCards and IP:
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