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MPP4 Gene

protein-coding   GIFtS: 50
GCID: GC02M202509

Membrane Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member...


(Previous symbol: DLG6)
  See MPP4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member 4)1 2     ALS2CR52 3
DLG61 2 3 5     Discs, Large Homolog 62
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 5
Protein2 3
     MAGUK P55 Subfamily Member 42
Discs Large Homolog 62 3     

External Ids:    HGNC: 136801   Entrez Gene: 585382   Ensembl: ENSG000000821267   OMIM: 6065755   UniProtKB: Q96JB83   

Export aliases for MPP4 gene to outside databases

Previous GC identifers: GC02M200726 GC02M201234 GC02M202473 GC02M202712 GC02M202335 GC02M202217 GC02M194357


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPP4 Gene:
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)

GeneCards Summary for MPP4 Gene:
MPP4 (membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)) is a protein-coding gene. Diseases associated with MPP4 include lateral sclerosis, and amyotrophic lateral sclerosis. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8
Function: May play a role in retinal photoreceptors development (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPP4 gene promoter:
         SRF   GR   RP58   GATA-3   AML1a   SRF (504 AA)   FOXJ2 (long isoform)   STAT3   GR-alpha   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPP4 promoter sequence
   Search Chromatin IP Primers for MPP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPP4


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

Entrez Gene cytogenetic band: 2q33.2   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.2

MPP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPP4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M202509:  view genomic region     (about GC identifiers)

Start:
202,509,593 bp from pter      End:
202,563,417 bp from pter
Size:
53,825 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8 (See protein sequence)
Recommended Name: MAGUK p55 subfamily member 4  
Size: 637 amino acids; 72779 Da
Subunit: Interacts with MPDZ. May interact with GRIA2 (By similarity). Forms a complex with CRB1 and MPP5.
Interacts with FASLG
Secondary accessions: C9IZK4 Q53TT3 Q6ZNH6 Q96Q43 Q96Q44
Alternative splicing: 5 isoforms:  Q96JB8-1   Q96JB8-2   Q96JB8-3   Q96JB8-4   Q96JB8-5   

Explore the universe of human proteins at neXtProt for MPP4: NX_Q96JB8

Explore proteomics data for MPP4 at MOPED


See MPP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_149055.1  
ENSEMBL proteins: 
 ENSP00000387278   ENSP00000319363   ENSP00000380095   ENSP00000416781   ENSP00000387293  
 ENSP00000406160   ENSP00000386580   ENSP00000473500   ENSP00000353047  

MPP4 Human Recombinant Protein Products:

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Novus Biologicals MPP4 Protein
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Cloud-Clone Corp. Proteins for MPP4

 
Search eBioscience for Proteins for MPP4 

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Search eBioscience for ELISAs for MPP4 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 8):
 IPR008144 Guanylate_kin-like
 IPR008145 GK/Ca_channel_bsu
 IPR014775 L27_C
 IPR001452 SH3_domain
 IPR027417 P-loop_NTPase

Graphical View of Domain Structure for InterPro Entry Q96JB8

ProtoNet protein and cluster: Q96JB8

5 Blocks protein domains:
IPB001452 SH3 domain signature
IPB001478 PDZ/DHR/GLGF domain
IPB004172 L27 domain
IPB008144 Guanylate kinase
IPB011511 Variant SH3


UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8
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


Find genes that share domains with MPP4           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: MPP4_HUMAN, Q96JB8
Function: May play a role in retinal photoreceptors development (By similarity)

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with MPP4           About GenesLikeMe


Phenotypes:
     3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mpp4):
 cellular  nervous system  vision/eye 

Find genes that share phenotypes with MPP4           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for MPP4: Mpp4tm1Tili Mpp4tm1Wij

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPP4
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MPP4

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPP4
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPP4

miRNA
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Block miRNA regulation of human, mouse, rat MPP4 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate MPP4:
hsa-miR-3143 hsa-miR-338-3p
SwitchGear 3'UTR luciferase reporter plasmidMPP4 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for MPP4
Predesigned siRNA for gene silencing in human, mouse, rat MPP4

Gene Editing
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DNA2.0 Custom Protein Engineering Service for MPP4

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OriGene ORF clones in mouse, rat for MPP4
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GenScript: all cDNA clones in your preferred vector: MPP4 (NM_033066)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPP4
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPP4
Addgene plasmids for MPP4 

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP4


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MPP4_HUMAN, Q96JB8: Cytoplasm. Note=Detected at the outer limiting membrane (OLM) and in the outer plexiform
layer (OPL) of the retina. At the OLM, detected apical to the adherens junction (AJ)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
endoplasmic reticulum1
extracellular1
golgi apparatus1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0005737cytoplasm IDA--
GO:0042734presynaptic membrane IEA--
GO:0043231intracellular membrane-bounded organelle IDA--

Find genes that share ontologies with MPP4           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPP4
Interactions:

    GeneGlobe Interaction Network for MPP4

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

Selected Interacting proteins for MPP4 (Q96JB83 ENSP000003872784) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
InteractantInteraction Details
GeneCardExternal ID(s)
CXCR2P250253, ENSP000003196354I2D: score=1 STRING: ENSP00000319635
GRIA2P422623, ENSP000002644264I2D: score=1 STRING: ENSP00000264426
MPP5Q8N3R93, ENSP000002616814I2D: score=1 STRING: ENSP00000261681
FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
SF3A2ENSP000002214944STRING: ENSP00000221494
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0035418protein localization to synapse IEA--

Find genes that share ontologies with MPP4           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MPP4

1 Novoseek inferred chemical compound relationship for MPP4 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate 61.1 3 15914641 (1), 18955048 (1)



Find genes that share compounds with MPP4           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for MPP4 gene: 
NM_033066.2  

Unigene Cluster for MPP4:

Membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
Hs.63085  [show with all ESTs]
Unigene Representative Sequence: BX647162
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000409474(uc010ftj.3 uc010zhq.2 uc002uyk.4) ENST00000315506(uc010ftk.3)
ENST00000396886(uc010zhs.2 uc002uyj.4) ENST00000428900(uc010zht.2 uc010zhr.2)
ENST00000409143 ENST00000447335 ENST00000409818(uc002uyi.4 uc002uyl.4)
ENST00000486212(uc002uym.1) ENST00000483841(uc002uyn.3) ENST00000602867
ENST00000359962
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat MPP4 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate MPP4:
hsa-miR-3143 hsa-miR-338-3p
SwitchGear 3'UTR luciferase reporter plasmidMPP4 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for MPP4
Predesigned siRNA for gene silencing in human, mouse, rat MPP4
Clone
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OriGene clones in human, mouse for MPP4 (see all 6)
OriGene ORF clones in mouse, rat for MPP4
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: MPP4 (NM_033066)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPP4
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPP4
Addgene plasmids for MPP4 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for MPP4
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPP4
  QuantiTect SYBR Green Assays in human, mouse, rat MPP4
  QuantiFast Probe-based Assays in human, mouse, rat MPP4

Additional mRNA sequence: 

AB053302.1 AB053303.1 AB053304.1 AF316032.1 AK131208.1 AK298589.1 AK298947.1 AK300622.1 
BC132785.1 BC144206.1 BX647162.1 BX648531.1 DQ426883.1 

10 DOTS entries:

DT.102830715  DT.100738383  DT.101967793  DT.100742379  DT.101973395  DT.121028097  DT.91912448  DT.307629 
DT.95157344  DT.97824998 

Selected AceView cDNA sequences (see all 67):

NM_033066 CD634687 CK299856 AB053302 BM999928 AF316032 BQ001206 BX093612 
BI868629 BQ188381 BX648531 AL711534 AA015777 AB053303 CB219611 CB219734 
CD634692 BX647162 AK131208 AL712749 BG202753 AL711768 AL711954 BX491120 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for MPP4    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:              -     -                                                                 -           -                                                   
SP2:              -     -                             -     -                                                                                             
SP3:                                                                                                  -                                                   
SP4:                    -                                                                                                                                 
SP5:                                                  -     -                                                                                             


ECgene alternative splicing isoforms for MPP4

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MPP4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATCTTTTTAA
MPP4 Expression
About this image


MPP4 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Eye (Sensory Organs)
         Mature Rod Cells Outer Nuclear Layer
 
 NULL (Uncategorized)
         CD31, CD144 positive cells
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
 
 Brain (Nervous System)
         Cerebellum
MPP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MPP4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.63085

UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8
Tissue specificity: Expressed in the retina (at protein level). Highly expressed in the retina. Lower amounts are
detected in brain, testis, ARPE-19, RPE/choroid and fetal eye. Isoform 5 is retina-specific

    Custom PCR Arrays for MPP4
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPP4
QuantiTect SYBR Green Assays in human, mouse, rat MPP4
QuantiFast Probe-based Assays in human, mouse, rat MPP4
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP4

(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)
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This gene was present in the common ancestor of animals.

Orthologs for MPP4 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mpp41 , 5 membrane protein, palmitoylated 4 (MAGUK p55 subfamily more1, 5 84.51(n)1
83.46(a)1
  1 (29.20 cM)5
2271571  NM_001164682.11  NP_001158154.11 
 591209365 
chicken
(Gallus gallus)
Aves MPP41 membrane protein, palmitoylated 4 (MAGUK p55 subfamily more 73.95(n)
73.21(a)
  769757  XM_001233046.2  XP_001233047.2 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
74(a)
69(a)
1 ↔ many
1 ↔ many
GL343478.1(162065-186972)
GL344565.1(6101-23422)
tropical clawed frog
(Xenopus tropicalis)
Amphibia mpp41 membrane protein, palmitoylated 4 (MAGUK p55 subfamily more 68.56(n)
64.39(a)
  100495166  XM_002936538.2  XP_002936584.2 
zebrafish
(Danio rerio)
Actinopterygii LOC5565941 MAGUK p55 subfamily member 4-like 62.07(n)
60.3(a)
  556594  XM_679434.5  XP_684526.5 
fruit fly
(Drosophila melanogaster)
Insecta metro6
menage a trois
37(a)
1 → many
2R(7113962-7120056)
worm
(Caenorhabditis elegans)
Secernentea magu-16
Protein MAGU-1 (magu-1) mRNA, complete cds
28(a)
1 → many
III(464866-471695) WBGene00021914


ENSEMBL Gene Tree for MPP4 (if available)
TreeFam Gene Tree for MPP4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MPP4 gene
MPP72  DLG32  MPP62  MPP52  DLG22  MPP22  DLG42  DLG12  
CASK2  MPP12  MPP32  
Selected SIMAP similar genes for MPP4 using alignment to 10 protein entries:     MPP4_HUMAN (see all proteins) (see all similar genes):
C4orf22    CRCP    EIF3L    ZNF585B    FAM3A    DYM
DCTN5    FAM210A    NSRP1    TMEM14B    UTY    ZNF20
CERS5    CHID1    ZNF564    AEBP2    HKR1    LYRM4

Find genes that share paralogs with MPP4           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MPP4 (see all 1142)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs113998021,2
C--194357855(+) AAAAA-/ATTAAG 1 -- ut31 trp31Minor allele frequency- A:0.50CSA 2
rs1112757451,2
C--194359967(+) ACCGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2
rs2016263641,2
C--194359967(+) ACCGGA/GAAAAA 1 -- int10--------
rs1129367311,2
C--194364803(+) AAACAAAAC/-  
        
AAACA
1 -- int11Minor allele frequency- -:0.00CSA 2
rs134122561,2
C--194379601(+) AAAATA/TAAAAA 1 -- int10--------
rs724968871,2
C--194383969(+) GAGGA-/GTTT  
        
GTTTG
1 -- int10--------
rs1902194281,2
--201898425(+) TTTCAA/CTCTTG 1 -- ds50010--------
rs1404063061,2
--201898450(+) TAGGTC/GTCTGG 1 -- ds50010--------
rs1824865391,2
--201898479(+) TTCTAA/GTTTAG 1 -- ds50010--------
rs1502302271,2
--201898505(+) TGGCT-/GGTTAA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for MPP4 (202509593 - 202563417 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for MPP4:    About this table    
Variant IDTypeSubtypePubMed ID
esv1003773CNV Deletion20482838
esv2721366CNV Deletion23290073
esv1285681CNV Deletion17803354
esv2721365CNV Deletion23290073
esv2370658CNV Deletion18987734
nsv214937CNV Loss16902084
nsv524548CNV Gain19592680
nsv875709CNV Gain21882294

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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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OMIM gene information: 606575    OMIM disorders: --

2 diseases for MPP4:    
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lateral sclerosis    amyotrophic lateral sclerosis


Find genes that share disorders with MPP4           About GenesLikeMe

2 Novoseek inferred disease relationships for MPP4 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa 62.1 2 12384283 (2)
retinopathy 35 1 15914641 (1)

Genetic Association Database (GAD): MPP4
Human Genome Epidemiology (HuGE) Navigator: MPP4 (5 documents)

Export disorders for MPP4 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 MPP4 gene, integrated from 10 sources (see all 23):
(articles sorted by number of sources associating them with MPP4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. (PubMed id 11414766)1, 2, 3 Stoehr H. and Weber B.H.F. (Genomics 2001)
  2. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)1, 2, 9 Kantardzhieva A.... Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005)
  3. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (PubMed id 12384283)1, 2, 9 Conte I.... Ciccodicola A. (Gene 2002)
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
  6. 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. (J. Comp. Neurol. 2005)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2 Hadano S....Ikeda J.-E. (Nat. Genet. 2001)
  9. Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement. (PubMed id 20235792)4 Uhl G.R....MunafA^ M.R. (Pharmacogenomics 2010)
  10. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1 Roni V.... Wissinger B. (BMC Genomics 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 58538 HGNC: 13680 AceView: MPP4 Ensembl:ENSG00000082126 euGenes: HUgn58538
ECgene: MPP4 H-InvDB: MPP4

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MPP4 Pharmacogenomics, SNPs, Pathways
GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPP4[genesymbol]

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MPP4 gene:
Search GeneIP for patents involving MPP4

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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