FYVE, RhoGEF and PH Domain-Containing Protein 4

Alternative Names

  • FGD4
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OMIM Number

611104

NCBI Gene ID

121512

Uniprot ID

Q96M96

Length

246,522 bases

No. of Exons

27

No. of isoforms

3

Protein Name

FYVE, RhoGEF and PH Domain-Containing Protein 4

Molecular Mass

86626 Da

Amino Acid Count

766

Genomic Location

chr12:32,399,529-32,646,050

Gene Map Locus
12p11.21

Description

The FGD4 gene encodes a protein with guanyl-nucleotide exhange factor activity, which is required for activating CDC42, a GTPase responsible for regulating several signalling pathways. The FGD4 protein is involved in modulating several biological processes, including organisation of actin cytoskeleton, filopodium assembly, and regulation of cell shape and the apoptotic process.    

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001304480.1:c.1229T>CAlgeriaNC_000012.12:g.32602217T>CPathogenic, Uncertain SignificanceNG_008626.2:g.207689T>C; NM_001304480.1:c.1229T>C; NP_001291409.1:p.Met410Thr637498711015
NM_001304480.1:c.1229T>GAlgeria; LebanonNC_000012.12:g.32602217T>GPathogenicPathogenicCharcot-Marie-Tooth Disease, Type 4HNG_008626.2:g.207689T>G; NM_001304480.1:c.1229T>G; NP_001291409.1:p.Met410Arg6374987138445
NM_139241.3:c.1325G>AAlgeriaNC_000012.12:g.32611270G>AUncertain SignificancePathogenicCharcot-Marie-Tooth Disease, Type 4HNG_008626.2:g.216742G>A; NM_139241.3:c.1325G>A; NP_640334.2:p.Arg442His28186506338443
NM_139241.3:c.1698G>ALebanonNC_000012.12:g.32625716G>AUncertain SignificancePathogenicCharcot-Marie-Tooth Disease, Type 4HNG_008626.2:g.231188G>A; NM_139241.3:c.1698G>H; NP_640334.2:p.Met566Ile281865064637078
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