• Gene id: 58538

Gene Summary

• Gene Symbol: MPP4   Gene   UCSC   Ensembl
• Aliases: ALS2CR5, DLG6
• Gene name: membrane palmitoylated protein 4
• Alternate names: MAGUK p55 subfamily member 4, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein, discs large homolog 6, membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4),
• Gene location: 2q33.1 (201700262: 201644873)     Exons: 22     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 607104

Protein Summary

• Protein general information: Q96JB8  
  • Name: MAGUK p55 subfamily member 4 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein) (Discs large homolog 6)
  • Length: 637  
  • Mass: 72779
  • 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. {ECO
• Sequence:

  MIQSDKGADPPDKKDMKLSTATNPQNGLSQILRLVLQELSLFYGRDVNGVCLLYDLLHSPWLQALLKIYDCLQEF
  KEKKLVPATPHAQVLSYEVVELLRETPTSPEIQELRQMLQAPHFKALLSAHDTIAQKDFEPLLPPLPDNIPESEE
  AMRIVCLVKNQQPLGATIKRHEMTGDILVARIIHGGLAERSGLLYAGDKLVEVNGVSVEGLDPEQVIHILAMSRG
  TIMFKVVPVSDPPVNSQQMVYVRAMTEYWPQEDPDIPCMDAGLPFQKGDILQIVDQNDALWWQARKISDPATCAG
  LVPSNHLLKRKQREFWWSQPYQPHTCLKSTLSISMEEEDDMKIDEKCVEADEETFESEELSEDKEEFVGYGQKFF
  IAGFRRSMRLCRRKSHLSPLHASVCCTGSCYSAVGAPYEEVVRYQRRPSDKYRLIVLMGPSGVGVNELRRQLIEF
  NPSHFQSAVPHTTRTKKSYEMNGREYHYVSKETFENLIYSHRMLEYGEYKGHLYGTSVDAVQTVLVEGKICVMDL
  EPQDIQGVRTHELKPYVIFIKPSNMRCMKQSRKNAKVITDYYVDMKFKDEDLQEMENLAQRMETQFGQFFDHVIV
  NDSLHDACAQLLSAIQKAQEEPQWVPATWISSDTESQ

• Structural information:
  • Protein Domains: (24..8-)
    (/note="L27-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (87..13-)
    (/note="L27-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00365-)
    (154..23-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (2-)
  • Interpro: IPR008145  IPR008144  IPR020590  IPR014775  IPR004172   IPR036892  IPR035600  IPR027417  IPR001478  IPR036034  IPR036028  IPR001452  
  • Prosite: PS00856 PS50052 PS51022 PS50106 PS50002
  • CDD: cd12034
  • STRING: ENSP00000387278
• Other Databases: GeneCards:  MPP4  Malacards:  MPP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0035418	protein localization to synapse	ISM	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R