• Gene id: 57449

Gene Summary

• Gene Symbol: PLEKHG5   Gene   UCSC   Ensembl
• Aliases: CMTRIC, DSMA4, GEF720, Syx, Tech
• Gene name: pleckstrin homology and RhoGEF domain containing G5
• Alternate names: pleckstrin homology domain-containing family G member 5, NFkB activating protein, PH domain-containing family G member 5, guanine nucleotide exchange factor 720, novel PH domain-containing protein, pleckstrin homology domain containing, family G (with RhoGef d,
• Gene location: 1p36.31 (6520060: 6466091)     Exons: 28     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have b
• OMIM: 618255

Protein Summary

• Protein general information: O94827  
  • Name: Pleckstrin homology domain containing family G member 5 (PH domain containing family G member 5) (Guanine nucleotide exchange factor 720) (GEF720)
  • Length: 1062  
  • Mass: 117451
  • Tissue specificity: Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expresse
• Sequence:

  MDDQSPAEKKGLRCQNPACMDKGRAAKVCHHADCQQLHRRGPLNLCEACDSKFHSTMHYDGHVRFDLPPQGSVLA
  RNVSTRSCPPRTSPAVDLEEEEEESSVDGKGDRKSTGLKLSKKKARRRHTDDPSKECFTLKFDLNVDIETEIVPA
  MKKKSLGEVLLPVFERKGIALGKVDIYLDQSNTPLSLTFEAYRFGGHYLRVKAPAKPGDEGKVEQGMKDSKSLSL
  PILRPAGTGPPALERVDAQSRRESLDILAPGRRRKNMSEFLGEASIPGQEPPTPSSCSLPSGSSGSTNTGDSWKN
  RAASRFSGFFSSGPSTSAFGREVDKMEQLEGKLHTYSLFGLPRLPRGLRFDHDSWEEEYDEDEDEDNACLRLEDS
  WRELIDGHEKLTRRQCHQQEAVWELLHTEASYIRKLRVIINLFLCCLLNLQESGLLCEVEAERLFSNIPEIAQLH
  RRLWASVMAPVLEKARRTRALLQPGDFLKGFKMFGSLFKPYIRYCMEEEGCMEYMRGLLRDNDLFRAYITWAEKH
  PQCQRLKLSDMLAKPHQRLTKYPLLLKSVLRKTEEPRAKEAVVAMIGSVERFIHHVNACMRQRQERQRLAAVVSR
  IDAYEVVESSSDEVDKLLKEFLHLDLTAPIPGASPEETRQLLLEGSLRMKEGKDSKMDVYCFLFTDLLLVTKAVK
  KAERTRVIRPPLLVDKIVCRELRDPGSFLLIYLNEFHSAVGAYTFQASGQALCRGWVDTIYNAQNQLQQLRAQEP
  PGSQQPLQSLEEEEDEQEEEEEEEEEEEEGEDSGTSAASSPTIMRKSSGSPDSQHCASDGSTETLAMVVVEPGDT
  LSSPEFDSGPFSSQSDETSLSTTASSATPTSELLPLGPVDGRSCSMDSAYGTLSPTSLQDFVAPGPMAELVPRAP
  ESPRVPSPPPSPRLRRRTPVQLLSCPPHLLKSKSEASLLQLLAGAGTHGTPSAPSRSLSELCLAVPAPGIRTQGS
  PQEAGPSWDCRGAPSPGSGPGLVGCLAGEPAGSHRKRCGDLPSGASPRVQPEPPPGVSAQHRKLTLAQLYRIRTT
  LLLNSTLTASEV

• Structural information:
  • Protein Domains: (392..58-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (640..74-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR011993  IPR001849  IPR040181   IPR029071  
  • Prosite: PS50010 PS50003
  • CDD: cd00160
  • STRING: ENSP00000439625
• Other Databases: GeneCards:  PLEKHG5  Malacards:  PLEKHG5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	ISS	cellular component
GO:0035767	endothelial cell chemotaxis	ISS	biological process
GO:0030139	endocytic vesicle	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0043542	endothelial cell migration	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0099575	regulation of protein catabolic process at presynapse, modulating synaptic transmission	IEA	biological process
GO:0035767	endothelial cell chemotaxis	IEA	biological process
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Charcot-Marie-Tooth disease	KEGG:H00264
Distal hereditary motor neuropathies	KEGG:H00856
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R