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. Author manuscript; available in PMC: 2014 Jun 30.
Published in final edited form as: Curr Mol Med. 2014 Feb;14(2):221–234. doi: 10.2174/1566524014666140128110339

Table 1.

Known human Dbl family RhoGEFs and their roles in development

Dbl protein Other
Names		 Acc # aa # Target
GTPases		 Defect Reference
α-Pix ARHGEF6; Cool-2 Q15052 776 Rac1, Cdc42 Viable and fertile; deficient immune response, lower mature lymphocyte population, impaired spatial and complex learning [98, 99]
β-Pix ARHGEF7; Cool-1 Q14155 803 Rac1, Cdc42, Lrrk2 Embryonic lethal [98, 100]
Abr Q12979 859 RhoA, Rac1, Cdc42 Viable and fertile; cerebellar and vestibular defects with combined Bcr loss [101, 102]
AKAP13 ARHGEF13; Lbc Q12802 2813 RhoA Early embryonic lethality with heart development defects [50]
ALS2 Alsin Q96Q42 1657 Rac1, Rab5 Viable and fertile; hypoactive behavior, shorter lifespan in some genetic backgrounds [103, 104]
ARHGEF4 XPLN; STA3 Q9NR81 526 RhoA/B In zebrafish: cytopenia, abnormal vascular development [105, 106]
ARHGEF10 RhoGEF10 O15013 1369 RhoA unknown [107]
ARHGEF10L GrinchGEF Q9HCE6 1279 RhoA/B/C unknown [108]
ARHGEF16 Ephexin-4 Q5VV41 709 RhoG, Cdc42 unknown [109, 110]
ARHGEF33 FLJ41381 A8MVXO 844 unknown unknown
ARHGEF37 FLJ41603 A1IGU5 675 unknown unknown
ARHGEF38 FLJ20184 Q9NXL2 219 unknown unknown
Asef1 ARHGEF4; ASEF Q9NR80 690 Rac1, Cdc42 Viable and fertile; impaired retinal angiogenesis [111]
Asef2 ARHGEF29; SPATA13 Q96N96 652 RhoA, Rac1, Cdc42 Viable and fertile [112, 113]
BCR P11274 1271 Rac1, Cdc42 Viable and fertile; increase in neutrophil respiratory burst [114]
C9orf100 ARHGEF39; FLJ14642 Q8N4T4 335 unknown unknown [115]
Dbl ARHGEF21; MCF2 P10911 925 RhoA/B/C/G, Rac1, Cdc42 Viable and fertile; dendrite elongation defect [116]
Dbs ARHGEF14; MCF2L O15068 1137 RhoA, Rac1, Cdc42 Viable and fertile; lower B cell count and cholesterol, increased grip strength, hyperphosphatemia (males only) [117, 118]
DNMBP ARHGEF36; TUBA Q6XZF7 1577 Cdc42 unknown [119]
Ect2 ARHGEF31 Q9H8V3 914 RhoA/B, Rac1, Cdc42 Peri-implantation lethality [52, 120]
Ect2L ARHGEF32 Q008S8 904 unknown unknown
Ephexin-1 ARHGEF27; WGEF Q8N5V2 710 RhoA, Rac1, Cdc42 Viable and fertile; severe muscle weakness in adults [121]
FARP1 CDEP Q9Y4F1 1045 RhoA, Rac1 unknown [122, 123]
FARP2 FIR, FRG O94887 1054 Rac1, Cdc42 Viable [124–126]
FGD1 FGDY; ZFYVE3 P98174 961 Cdc42 Human genomic deletions cause Aarskog-Scott syndrome [127]
FGD2 ZFYVE4 Q7Z6J4 655 Cdc42 unknown [128]
FGD3 ZFYVE5 Q5JSP0 725 Cdc42 unknown [129]
FGD4 CMT4H; Frabin; ZFYVE5 Q96M96 766 Cdc42 Viable and fertile; myelin abnormalities [130]
FGD5 ZFYVE23 Q6ZNL6 1462 Cdc42 unknown [131]
FGD6 ZFYVE24 Q6ZV73 1430 unknown unknown
GEF-H1 ARHGEF2; Lfc Q92974 986 RhoA, RhoB unknown [132, 133]
hPEM-2 ARHGEF9; Collybistin O43307 516 Cdc42 Loss of function in humans causes mental retardation and epilepsy [134, 135]
Intersectin-1 ITSN1 Q15811 1721 Cdc42 Some early postnatal fatality; fertile, dysregulated neuronal vesicle trafficking [136, 137]
Intersectin-2 ITSN2 Q9NZM3 1697 Cdc42 unknown [138]
Kalirin ARHGEF24; Duet, Duo O60229 2985 Rac1 Viable and fertile; reduced cortex and hippocampal size, locomotor hyperactivity, memory impairment, abnormal social behavior [139]
LARG ARHGEF12 Q9NZN5 1544 RhoA Viable and fertile; smooth muscle hypertension defects [140]
MCF2L2 ARHGEF22 Q86YR7 1114 unknown unknown
MyoGEF PLEKHG6 Q3KR16 790 RhoA/C/G, Rac1 unknown [141, 142]
NET1 ARHGEF8 Q7Z628 596 RhoA/B/C unknown [120, 143, 144]
Obscurin ARHGEF30; OBSCN Q5VST9 7968 RhoA/Q Viable and fertile; muscle weakness, mild age-dependent muscular myopathy [145–148]
P-Rex1 Q8TCU6 1659 Rac1/2 Viable and fertile; reduced lung permeability, platelet secretion and aggregation, and neutrophil recruitment [149–152]
P-Rex2 Q70Z35 1606 Rac1 Viable and fertile; altered Purkinje cell morphology, impaired motor coordination [153, 154]
p114RhoGEF ARHGEF18 Q6ZSZ5 1173 RhoA, Rac1 unknown [155]
p115RhoGEF ARHGEF1; LSC Q6NX52 948 RhoA Viable and fertile; leukocyte homeostasis defects, gastrointestinal motor dysfunctions [56, 57, 156]
p164-RhoGEF ARHGEF17; TEM4 Q96PE2 2063 RhoA/B/C unknown [157, 158]
p63RhoGEF ARHGEF25; GEFT Q86VW2 580 RhoA unknown [159]
PDZ-RhoGEF ARHGEF11; PRG O15085 1522 RhoA Viable and fertile [156, 160]
PLEKHG1 ARHGEF41 Q9ULL1 1385 unknown Decreased granulocytes, decreased susceptibility to bacterial infection
PLEKHG2 ARHGEF42; FLJ00018 Q9H7P9 1386 Rac1, Cdc42 unknown [161]
PLEKHG3 ARHGEF43 A1L390 1219 unknown Deleted in some human autism cases, learning difficulties [162, 163]
PLEKHG4 ARHGEF44; SCA4 Q58EX7 1191 unknown Human genetic mutations associated with spinocerebellar ataxia [164]
PLEKHG4B KIAA1909 Q96PX9 1271 unknown unknown
PLEKHG5 DSMA4; GEF720 O94827 1062 RhoA Human genetic mutations associated with distal spinal muscular atrophy [165, 166]
PLEKHG7 Q6ZR37 379 unknown unknown
RasGRF1 CDC25; GRF1 Q13972 1275 Ras, Rac1 Viable and fertile; reduced body weight and impaired growth, glucose homeostasis and retinal defects, impaired long-term memory, longer lifespan [167–172]
RasGRF2 GRF2 O14827 1237 Ras, Rac1 Viable and fertile; impaired T cell signaling [173, 174]
Rgnef ARHGEF28; p190RhoGEF Q8N1W1 1705 RhoA/C Partial embryonic lethality; fertile, decreased size at birth [22, 44]
SGEF ARHGEF26 Q96DR7 871 RhoG Viable and fertile [175, 176]
Solo ARHGEF40; Scambio Q8TER5 1519 RhoA/C unknown [177]
SOS1 GF1 Q07889 1333 Ras, Rac1 Embryonic lethal [51, 178, 179]
SOS2 Q07890 1332 Ras, Rac1 Viable and fertile [179, 180]
Tiam1 Q13009 1591 Rac1, Cdc42, RhoA Partial embryonic lethality; fertile, smaller brain size, some anencephaly and exencephaly [181, 182]
Tiam2 STEF Q8IVF5 1701 Rac1 unknown [183]
TIM-1 ARHGEF5; Ephexin-3 Q12774 1597 RhoA/B/C/G Viable and fertile; decrease in dendritic cell migration [184]
Trio ARHGEF23 O75962 3038 RhoA/G, Rac1 Embryonic lethal; muscle and neural tissue defects [53]
VAV1 VAV P15498 845 RhoA/G, Rac1, Cdc42 Viable and fertile; T cell development defects [185, 186]
VAV2 P52735 878 RhoA/G, Rac1, Cdc42 Viable and fertile; cardiovascular remodeling, renal dysfunction [187, 188]
VAV3 Q9UKW4 847 RhoA/G, Rac1, Cdc42 Viable and fertile; large bones, cardiovascular remodeling, tachycardia, hypertension, renal dysfunction, cerebellar defects [189, 190]
Vsm-RhoGEF ARGEF15; Ephexin-5 O94989 841 Cdc42 Viable and fertile; reduced retinal vasculature growth [191]
WGEF ARHGEF19; Ephexin-2 Q8IW93 802 RhoA, Cdc42, Rac1 unknown [192]

Acc #, human protein accession number; aa #, protein amino acid length; Defects as determined by human pathology or targeting appropriate GEF homolog in other animal species.