• Gene id: 55785

Gene Summary

• Gene Symbol: FGD6   Gene   UCSC   Ensembl
• Aliases: ZFYVE24
• Gene name: FYVE, RhoGEF and PH domain containing 6
• Alternate names: FYVE, RhoGEF and PH domain-containing protein 6, zinc finger FYVE domain-containing protein 24,
• Gene location: 12q22 (95217466: 95076748)     Exons: 27     NC_000012.12
• OMIM: 613520

Protein Summary

• Protein general information: Q6ZV73  
  • Name: FYVE, RhoGEF and PH domain containing protein 6 (Zinc finger FYVE domain containing protein 24)
  • Length: 1430  
  • Mass: 160816
• Sequence:

  MTSAAEIKKPPVAPKPKFVVANNKPAPPPIAPKPDIVISSVPQSTKKMKPAIAPKPKVLKTSPVREIGQSPSRKI
  MLNLEGHKQELAESTDNFNCKYEGNQSNDYISPMCSCSSECIHKLGHRENLCVKQLVLEPLEMNENLENSKIDET
  LTIKTRSKCDLYGEKAKNQGGVVLKASVLEEELKDALIHQMPPFISAQKHRPTDSPEMNGGCNSNGQFRIEFADL
  SPSPSSFEKVPDHHSCHLQLPSDECEHFETCQDDSEKSNNCFQSSELEALENGKRSTLISSDGVSKKSEVKDLGP
  LEIHLVPYTPKFPTPKPRKTRTARLLRQKCVDTPSESTEEPGNSDSSSSCLTENSLKINKISVLHQNVLCKQEQV
  DKMKLGNKSELNMESNSDAQDLVNSQKAMCNETTSFEKMAPSFDKDSNLSSDSTTVDGSSMSLAVDEGTGFIRCT
  VSMSLPKQLKLTCNEHLQSGRNLGVSAPQMQKESVIKEENSLRIVPKKPQRHSLPATGVLKKAASEELLEKSSYP
  SSEEKSSEKSLERNHLQHLCAQNRGVSSSFDMPKRASEKPVWKLPHPILPFSGNPEFLKSVTVSSNSEPSTALTK
  PRAKSLSAMDVEKCTKPCKDSTKKNSFKKLLSMKLSICFMKSDFQKFWSKSSQLGDTTTGHLSSGEQKGIESDWQ
  GLLVGEEKRSKPIKAYSTENYSLESQKKRKKSRGQTSAANGLRAESLDDQMLSRESSSQAPYKSVTSLCAPEYEN
  IRHYEEIPEYENLPFIMAIRKTQELEWQNSSSMEDADANVYEVEEPYEAPDGQLQLGPRHQHSSSGASQEEQNDL
  GLGDLPSDEEEIINSSDEDDVSSESSKGEPDPLEDKQDEDNGMKSKVHHIAKEIMSSEKVFVDVLKLLHIDFRDA
  VAHASRQLGKPVIEDRILNQILYYLPQLYELNRDLLKELEERMLHWTEQQRIADIFVKKGPYLKMYSTYIKEFDK
  NIALLDEQCKKNPGFAAVVREFEMSPRCANLALKHYLLKPVQRIPQYRLLLTDYLKNLIEDAGDYRDTQDALAVV
  IEVANHANDTMKQGDNFQKLMQIQYSLNGHHEIVQPGRVFLKEGILMKLSRKVMQPRMFFLFNDALLYTTPVQSG
  MYKLNNMLSLAGMKVRKPTQEAYQNELKIESVERSFILSASSATERDEWLEAISRAIEEYAKKRITFCPSRSLDE
  ADSENKEEVSPLGSKAPIWIPDTRATMCMICTSEFTLTWRRHHCRACGKIVCQACSSNKYGLDYLKNQPARVCEH
  CFQELQKLDHQHSPRIGSPGNHKSPSSALSSVLHSIPSGRKQKKIPAALKEVSANTEDSSMSGYLYRSKGNKKPW
  KHFWFVIKNKVLYTYAASEDVAALESQPLLGFTVIQVKDENSESKVFQLLHKNMLFYVFKAEDAHSAQKWIEAFQ
  EGTIL

• Structural information:
  • Protein Domains: (871..106-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (1089..118-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (1333..142-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR037743  IPR011993  IPR001849   IPR000306  IPR017455  IPR013083  
  • Prosite: PS50010 PS50003 PS50178
  • CDD: cd15793 cd00160
  • STRING: ENSP00000344446
• Other Databases: GeneCards:  FGD6  Malacards:  FGD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0046847	filopodium assembly	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0031267	small GTPase binding	ISS	molecular function
GO:0030027	lamellipodium	ISS	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0030036	actin cytoskeleton organization	ISS	biological process
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
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq