CD46
|
CD46 molecule |
1q32.2 |
Cofactor activity for inactivation of complement components C3b and C4b by serum factor I |
Atypical hemolytic uremic syndrome with complement gene abnormality, hemolysis, elevated liver enzymes, and a low platelet count syndrome |
None |
[46,47] |
[7] |
BTNL2
|
Butyrophilin-like 2 |
6p21.32 |
MHC-II-associated, transmembrane protein, negative T cell regulator |
Sarcoidosis, multiple sclerosis, autism/schizophrenia |
[22,23,25] |
None |
None |
SLAM
|
Signaling lymphocytic activation molecule family member 1 |
1q23.3 |
Self-ligand receptor of signaling lymphocytic activation molecule, modulating the activation and differentiation of a wide variety of immune cells |
Measles susceptibility, subacute sclerosing panencephalitis |
None |
[47] |
None |
IFI44L
|
Interferon-induced protein 44 like |
1p31.1 |
Unknown, shown a low antiviral activity against hepatitis C virus |
Lymph node tuberculosis, Aicardi-Goutieres syndrome |
None |
[46] |
[7] |
TLR4
|
Toll-like receptor 4 |
9q33.1 |
Pathogen recognition and activation of innate immunity |
Behcet’s disease |
None |
[48] |
None |
TLR2
|
Toll-like receptor 2 |
4q31.3 |
Pathogen recognition and activation of innate immunity |
Leprosy susceptibility, tuberculosis susceptibility |
[27] |
[48] |
None |
KIAA1542
|
PHD and ring finger domains 1 |
11p15.5 |
Protein domain-specific binding and RNA polymerase binding |
Systemic lupus erythematosus |
None |
[48] |
None |
TRIM5
|
Tripartite motif-containing 5 |
11p15.4 |
E3 ubiquitin-ligase, may have role in retroviral restriction |
Rubella susceptibility, immune deficiency disease |
None |
[38] |
None |
TRIM22
|
Tripartite motif-containing 22 |
11p15.4 |
Mediates interferon antiviral effects |
Rubella susceptibility, hepatitis B susceptibility |
None |
[38] |
None |
SCN1A
|
Sodium voltage-gated channel α subunit 1 |
2q24.3 |
Sodium channel α subunit, regulates sodium exchange between intracellular and extracellular spaces, generation of action potentials in muscle cells and neurons |
Dravet syndrome, early infantile epileptic encephalopathy 6, familial or sporadic hemiplegic migraine, generalized epilepsy with febrile seizures plus (type 2), Lennox-Gastaut syndrome |
None |
None |
[7] |
SCN2A
|
Sodium voltage-gated channel α subunit 2 |
2q24.3 |
Sodium channel α subunit, regulates sodium exchange between intracellular and extracellular spaces, generation of action potentials in muscle cells and neurons |
Benign familial infantile epilepsy, benign familial neonatal-infantile seizures, Dravet syndrome, early infantile epileptic encephalopathy, generalized epilepsy with febrile seizures-plus, West syndrome |
None |
None |
[7] |
ANO3
|
Anoctamin 3 |
11p14.2 |
Membrane protein, Ca2+-activated chloride channel |
Cranio-cervical dystonia with laryngeal and upper-limb involvement |
None |
None |
[7] |