• Gene id: 221472

Gene Summary

• Gene Symbol: FGD2   Gene   UCSC   Ensembl
• Aliases: ZFYVE4
• Gene name: FYVE, RhoGEF and PH domain containing 2
• Alternate names: FYVE, RhoGEF and PH domain-containing protein 2, FGD1 family, member 2, FLJ00276 protein, epididymis secretory sperm binding protein, zinc finger FYVE domain-containing protein 4,
• Gene location: 6p21.2 (37005654: 37029071)     Exons: 20     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocyt
• OMIM: 611583

Protein Summary

• Protein general information: Q7Z6J4  
  • Name: FYVE, RhoGEF and PH domain containing protein 2 (Zinc finger FYVE domain containing protein 4)
  • Length: 655  
  • Mass: 74892
• Sequence:

  MKGASEEKLASVSNLVTVFENSRTPEAAPRGQRLEDVHHRPECRPPESPGPREKTNVGEAVGSEPRTVSRRYLNS
  LKNKLSSEAWRKSCQPVTLSGSGTQEPEKKIVQELLETEQAYVARLHLLDQVFFQELLKTARSSKAFPEDVVRVI
  FSNISSIYQFHSQFFLPELQRRLDDWTANPRIGDVIQKLAPFLKMYSEYVKNFERAAELLATWTDKSPLFQEVLT
  RIQSSEASGSLTLQHHMLEPVQRIPRYELLLKEYIQKLPAQAPDQADAQKALDMIFSAAQHSNAAITEMERLQDL
  WEVYQRLGLEDDIVDPSNTLLREGPVLKISFRRNDPMERYLFLFNNMLLYCVPRVIQVGAQFQVRTRIDVAGMKV
  RELMDAEFPHSFLVSGKQRTLELQARSQEEMISWMQAFQAAIDQIEKRNETFKAAAQGPEGDIQEQELQSEELGL
  RAPQWVRDKMVTMCMRCQEPFNALTRRRHHCRACGYVVCARCSDYRAELKYDDNRPNRVCLHCYAFLTGNVLPEA
  KEDKRRGILEKGSSATPDQSLMCSFLQLIGDKWGKSGPRGWCVIPRDDPLVLYVYAAPQDMRAHTSIPLLGYQVT
  VGPQGDPRVFQLQQSGQLYTFKAETEELKGRWVKAMERAASGWSPSWPNDGDLSD

• Structural information:
  • Protein Domains: (102..29-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (319..41-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (544..64-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR035941  IPR037797  IPR011993   IPR001849  IPR000306  IPR017455  IPR011011  IPR013083  
  • Prosite: PS50010 PS50003 PS50178
  • CDD: cd13386 cd13236 cd00160
  • STRING: ENSP00000274963
• Other Databases: GeneCards:  FGD2  Malacards:  FGD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0046847	filopodium assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001726	ruffle	IEA	cellular component
GO:1901981	phosphatidylinositol phosphate binding	IEA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0043507	positive regulation of JUN kinase activity	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0046847	filopodium assembly	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0001726	ruffle	ISS	cellular component
GO:0031267	small GTPase binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0008360	regulation of cell shape	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq