• Gene id: 130271

Gene Summary

• Gene Symbol: PLEKHH2   Gene   UCSC   Ensembl
• Aliases: PLEKHH1L
• Gene name: pleckstrin homology, MyTH4 and FERM domain containing H2
• Alternate names: pleckstrin homology domain-containing family H member 2, pleckstrin homology domain containing, family H (with MyTH4 domain) member 2,
• Gene location: 2p21 (31753967: 31908032)     Exons: 47     NC_000022.11
• OMIM: 612723

Protein Summary

• Protein general information: Q8IVE3  
  • Name: Pleckstrin homology domain containing family H member 2
  • Length: 1493  
  • Mass: 168229
  • Tissue specificity: Kidney. Reduced expression in patients with focal segmental glomerulosclerosis. {ECO
• Sequence:

  MAELSEPEGPVDWKERCVALESQLMKFRVQASKIRELLAEKMQQLERQVIDAERQAEKAFQQVQVMEDKLKAANI
  QTSESETRLYNKCQDLESLIQEKDDVIQNLELQLEEQKQIRIQEAKIIEEKAAKIKEWVTVKLNELELENQNLRL
  INQNQTEEIRTMQSKLQEVQGKKSSTVSTLKLSEGQRLSSLTFGCFLSRARSPPQVVKSEEMSKISSKEPEFTEG
  KDMEEMEIPEKSVDNQVLENNRGQRTLHQTPCGSEQNRKTRTSFATDGGISQNSGAPVSDWSSDEEDGSKGRSKS
  RCTSTLSSHTSEEGVQCSRMGSEMYLTASDDSSSIFEEETFGIKRPEHKKLYSWQQEAQWKALNSPLGKGNSELS
  KKEQDSSSDELNKKFQSQRLDYSSSSSEANTPSPILTPALMPKHPNSLSGKGTQLVPSSHLPPPKLRIPNVFSIS
  VALAKRHLSQPQLSSDRMFGTNRNAISMIRPLRPQETDLDLVDGDSTEVLENMDTSCDDGLFSYDSLDSPNSDDQ
  EHCDSAKKVAYSKPPTPPLHRFPSWESRIYAVAKSGIRMSEAFNMESVNKNSAATLSYTTSGLYTSLIYKNMTTP
  VYTTLKGKATQISSSPFLDDSSGSEEEDSSRSSSRTSESDSRSRSGPGSPRAMKRGVSLSSVASESDYAIPPDAY
  STDTEYSQPEQKLPKTCSSSSDNGKNEPLEKSGYLLKMSGKVKSWKRRWFVLKGGELLYYKSPSDVIRKPQGHIE
  LSASCSILRGDNKQTVQLTTEKHTYYLTADSPNILEEWIKVLQNVLRVQAANPLSLQPEGKPTMKGLLTKVKHGY
  SKRVWCTLIGKTLYYFRSQEDKFPLGQIKLWEAKVEEVDRSCDSDEDYEASGRSLLSTHYTIVIHPKDQGPTYLL
  IGSKHEKDTWLYHLTVAAGSNNVNVGSEFEQLVCKLLNIDGEPSSQIWRHPTLCHSKEGIISPLTTLPSEALQTE
  AIKLFKTCQLFINAAVDSPAIDYHISLAQSALQICLTHPELQNEICCQLIKQTRRRQPQNQPGPLQGWQLLALCV
  GLFLPHHPFLWLLRLHLKRNADSRTEFGKYAIYCQRCVERTQQNGDREARPSRMEILSTLLRNPYHHSLPFSIPV
  HFMNGIYQVVGFDASTTVEEFLNTLNQDTGMRKPAQSGFALFTDDPSGRDLEHCLQGNIKICDIISKWEQASKEQ
  QPGKCEGTRTVRLTYKNRLYFSVQARGETDREKLLLMYQTNDQIINGLFPLNKDLALEMAALLSQVEIGDFERPF
  STPAGHVTNQCKVNQTLKQVIEKFYPKRYRDGCSEEQLRQLCQRLSTRWMALRGHSAADCVRIYLTVARKWPFFG
  AKLFLAKPITPSSLGSTFLWLAVHEDGLSLLEYNSMRLIVSYVYKSLMTFGGYQDDFMVVINNTHSKDKPTEKLL
  FAMAKPKILEITLLIASYINNFHQQKAAFHHLSAPALLSAQTRGPQARMMGSQPLLSSSRPTKGPTLL

• Structural information:
  • Protein Domains: (703..79-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (811..91-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (955..111-)
    (/note="MyTH4-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00359-)
    (-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR000857  IPR038185  IPR011993  IPR001849  
  • Prosite: PS50057 PS51016 PS50003
  • CDD: cd14473
  • STRING: ENSP00000282406
• Other Databases: GeneCards:  PLEKHH2  Malacards:  PLEKHH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030027	lamellipodium	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003779	actin binding	ISS	molecular function
GO:0030864	cortical actin cytoskeleton	ISS	cellular component
GO:0030835	negative regulation of actin filament depolymerization	ISS	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0030835	negative regulation of actin filament depolymerization	IEA	biological process
GO:0030864	cortical actin cytoskeleton	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)