Gene locus | Protein | Protein function | Phenotype | Inheritance | Response to therapy |
Slit diaphragm associated proteins | |||||
NPHS1 19q13.1 | Nephrin | Member of the immunoglobulin family Essential component of the slit diaphragm | Finnish type congenital nephrotic syndrome, sporadic childhood FSGS, rarely adult onset FSGS | AR | Resistant to immunosuppression, reported cases of response to immunosuppression in heterozygous mutations or variants |
NPHS2 1q25.2 | Podocin | Transmembrane protein involved in recruitment of nephrin to the slit diaphragm | Familial or sporadic FSGS or DMS in early childhood-, adolescence-, or adult-onset FSGS in particular in compound heterozygotes for one pathogenic NPHS2 mutation and p.R229Q polymorphism | AR | Resistant to immunosuppression, reported cases of response to immunosuppression in heterozygous mutations or variants |
CD2AP 6p12 | CD2-associated protein | Scaffolding molecule between slit diaphragm and actin cytoskeleton | Childhood-onset FSGS | AD, rarely AR | Resistant to immunosuppression |
PLCE1 10q23.33 | Phospholipase C epsilon 1 | Signaling protein, interacts with nephrin | Isolated DMS, sporadic and familial early childhood-onset FSGS | AR | Reported cases of (partial) response to immunosuppression |
TRPC6 11q22.1 | Transient receptor potential cation channel 6 | Receptor-activated calcium channel localized at the foot process membrane, interacts with nephrin and podocin | Familial or sporadic adult-onset FSGS, childhood-onset FSGS has also been described | AD | Reported cases of (partial) response to immunosuppression |
MAGI2 7q11.23-q21.11 | Membrane-associated guanylate kinase, WW, and PDZ domain-containing 2 | Scaffolding molecule between slit diaphragm and actin cytoskeleton | Familial and sporadic congenital nephrotic syndrome | AR | Resistant to immunosuppression |
Actin cytoskeleton and regulation | |||||
ACTN4 19q13 | Alpha-actinin-4 | Member of the spectrin gene superfamily, cytoskeletal protein | Familial or sporadic adult-onset FSGS | AD | Resistant to immunosuppression |
MYO1E 15q22.2 | Nonmuscle myosin 1e | Member of the nonmuscle class I myosins Involved in intracellular movement and membrane trafficking | Familial childhood-onset FSGS | AR | Reported cases of (partial) response to cyclosporine |
ANLN 7p15-p14 | Anillin | F-actin binding protein, involved in slit diaphragm-cytoskeleton binding | Familial adult-onset FSGS | AD | Resistant to immunosuppression |
ARHGDIA 17q25.3 | Rho GDP dissociation inhibitor alpha | Regulation of podocyte migratory phenotype and shape | Congenital or early childhood-onset nephrotic syndrome | AR | Resistant to immunosuppression, may respond to RAC1 inhibitors (eplerenone) |
ARHGAP24 4q22.1 | Rho GTPase activating protein 24 | Regulation of podocyte migratory phenotype and shape | Adolescence-onset FSGS | AD | Resistant to immunosuppression |
TTC21B 2q24.3 | Tetratricopeptide repeat domain 21B | Intraflagellar transport-A component, regulation cytoskeleton adult podocytes | Adolescence- or adult-onset FSGS associated with atrophic tubules | AR | Resistant to immunosuppression |
KANK2 19p13.2 | Kidney ankyrin repeat-containing protein 2 | Regulation Rho GTPase activity in podocytes (cell migration and shape) | Familial early-onset SRNS | AR | Resistant to immunosuppression |
INF2 14q32.33 | Inverted formin 2 | Member of the formin family, function in depolymerization and polymerization of actin filaments | Familial or sporadic adolescence- and adult-onset FSGS | AD | Resistant to immunosuppression |
Nuclear pore complex proteins | |||||
NUP93 16q13 | Nucleoporine 93 kDa | Component of the nuclear pore complex | Familial childhood-onset SRNS | AR | Resistant to immunosuppression |
NUP205 7q33 | Nucleoporine 205 kDa | Component of the nuclear pore complex | Familial childhood-onset SRNS | AR | Resistant to immunosuppression |
XPO5 6p21.1 | Exportin 5 | Component of the nuclear pore complex | Familial childhood-onset SRNS | AR | Resistant to immunosuppression |
NUP107 12q15 | Nucleoporine 107 kDa | Component of the nuclear pore complex | Childhood-onset FSGS | AR | Resistant to immunosuppression |
Cell membrane-associated proteins | |||||
PTPRO 12p13-p12 | Protein tyrosine phosphatase, receptor type O | Member of the R3 subtype family of protein tyrosine phosphatases at the apical surface of polarized cells | Childhood-onset FSGS | AR | Resistant to immunosuppression, reported cases of (partial) response to immunosuppression |
EMP2 16p13.2 | Epithelial membrane protein 2 | Regulation of the amount of CAVEOLIN-1, EMP2 depletion causes decreased cell proliferation | Childhood-onset FSGS | AR | Reported cases of response to steroids |
PODXL 7q32.3 | Podocalyxin | Component of glycocalyx | Familial childhood- and adult-onset FSGS | AD | Resistant to immunosuppression |
GBM protein | |||||
LAMA5 20q13.2-q13.3 | Laminin alpha-5 | Member of the alpha-subfamily of laminin chains, major component of basement membranes | Adult-onset FSGS | AR/AD | Likely resistant to immunosuppression |
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