FRMD3
LOCUS ID257019
GENE_SYMBOLFRMD3
GENE NAMEFERM domain containing 3
SYNONYMNS4.1O, P410, EPB41LO, EPB41L4O
CHROMOSOME9
HOMOLOGENE ID16012
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. We identified 34 replicated genetic variants. Of these, 21 remained significantly associated with diabetic nephropathy in a random-effects meta-alysis. These variants were in or near the following genesACE, AKR1B1 (two variants), APOC1, APOE, EPO, NOS3 (two variants), HSPG2, VEGFA, FRMD3 (two variants), CARS (two variants), UNC13B, CPVL and CHN2, and GREM1, plus four variants not near genes. The odds ratios of associated genetic variants ranged from 0.48 to 1.70. additional variants were detected in subgroup alysesELMO1 (Asians), CCR5 (Asians) and CNDP1 (type 2 diabetes). 2. rs1888747 SNP is located at the FRMD3 gene, which is expressed in human kidney. Therefore, this gene is a candidate gene for DKD(Diabetic kdney Disease).21127830, 26753002
Retinopathy1. SNPs from CPVL/CHN2 and FRMD3 were associated with diabetic retinopathy with rs39059 and rs10868025 as the top SNPs (odds ratio [OR] 1.292, 95% CI 1.097-1.523, P = 0.0022, for rs39059; 1.201, 1.014-1.422, P = 0.0343, for rs10868025) in stage 1 sample21911749