|
LocusLink
ID |
Symbol |
Common name |
Position |
Aliases |
Binds
to Receptor(s) |
OMIM ID |
Key Functions |
Phenotype
associated with overexpression |
Phenotype
associated with deficiency |
Human
Genetic Diseases |
|
4049 |
TNFSF1 |
Lymphotoxin alpha (Lta) |
6p21.3 |
LT,
TNFB, TNFSF1 |
TNFR2 (1B), TNFR1 (1A), HVEM (14) |
153440 |
lymphoid organ formation |
|
Absence of LN and PP, defective GC
formation |
|
|
7124 |
TNFSF2 |
tumor necrosis factor (TNF) |
6p21.3 |
DIF,
TNFA, TNFSF2, CACHECTIN |
TNFR2 (1B), TNFR1 (1A) |
191160 |
inflammation |
Wasting syndrome, arthritis |
defective GC formation, resistance
to endotoxic shock and experimental arthritis |
TNF2 (G-308A) promotor polymorphism
associated with increased susceptability to septic shock. asthma and RA
severity |
|
4050 |
TNFSF3 |
lymphotoxin beta (LTb) |
6p21.3 |
p33,
TNFC, TNFSF3 |
as a b2a1 heterotrimer with LT-a binds
to LT-b Receptor (3) |
600978 |
lymphoid organ formation |
Ectopic lymphoid organ formation |
|
|
|
7292 |
TNFSF4 |
OX40 Ligand |
1q25 |
GP34,
OX4OL, TXGP1, CD134L, OX-40L |
OX40 (4) |
603594 |
CD4 T cell expansion, survival, and
Th2 development |
Increased Th2 responses |
Th2 deficiency, blockade improves
EAE |
|
|
959 |
TNFSF5 |
CD40 Ligand |
Xq26 |
IGM,
IMD3, TRAP, gp39, CD154, CD40L, HIGM1, T-BAM, |
CD40 (5) |
300386 |
Costimulation and differentiation
of B cells and APC |
Constitutive expression in B cells
or keratinocytes leads to SLE-like
syndrome |
Immunodeficiency due to Defective
Ig class switching and germinal center formation |
X-linked hyper-IGM syndrome
associated with CD40L loss of function mutations |
|
356 |
TNFSF6 |
Fas Ligand |
1q23 |
FASL,
CD178, CD95L, APT1LG1 |
Fas (6), DcR3 (6B) |
134638 |
Mediator of CD4(+) T cell apoptosis
due to restimulation and apoptosis in other cell types |
|
Lymphadenopathy and Systemic
Autoimmunity |
Autoimmune Lymphoproliferative
Syndrome (ALPS) type Ib |
|
970 |
TNFSF7 |
CD27 Ligand |
19p13 |
CD70,
CD27L, CD27LG |
CD27 (7) |
602840 |
T cell costimulation |
T cell hyperactivation eventually
leading to immunodeficiency
(HIV-like) |
|
|
|
944 |
TNFSF8 |
CD30 Ligand |
9q33 |
CD153,
CD30L, CD30LG |
CD30 (8) |
603875 |
|
|
|
|
|
8744 |
TNFSF9 |
4-1-BB Ligand |
19p13.3 |
4-1BB-L |
4-1BB (9) |
606182 |
T cell costimulation |
|
|
|
|
8743 |
TNFSF10 |
(TNF-like apoptosis inducing ligand)TRAIL |
3q26 |
TL2,
APO2L, TRAIL, Apo-2L |
DR4 (10A), DR5 (10B), DcR1 (10C),
DcR2 (10D) |
603598 |
Dendritic cell apoptosis, NK-cell
mediated tumor cell killing |
|
defective NK-mediated tumor
eradication |
|
|
8600 |
TNFSF11 |
RANK-L |
13q14 |
ODF,
OPGL, sOdf, RANKL, TRANCE, hRANKL2 |
RANK (11A) |
602642 |
mediates osteoclast formation and
bone remodeling. Stimulation of APC |
|
|
|
|
8742 |
TNFSF12 |
TWEAK |
17p13 |
APO3L,
DR3LG, TWEAK, MGC20669 |
TWEAK-R (12A) |
602695 |
Potential
role in inflammation and lymphocyte function |
|
|
|
|
8741 |
TNFSF13 |
APRIL |
17p13.1 |
APRIL,
TALL2, TWE-PRIL |
TACI (13B), BCMA (17) |
604472 |
Promotes T-independent type-2
responses through interactions with TACI |
overexpression in T cells produces
prolonged T cell survival and enhanced TI-2 responses |
|
|
|
10673 |
TNFSF13B |
BlyS, BAFF |
13q32-34 |
BAFF,
BLYS, TALL1, THANK, ZTNF4 |
TACI (3B), BAFF-R (13C), BCMA(17), |
603969 |
promotes B cell maturation,
plasmablast survival |
SLE-like systemic autoimmunity and
arthritis |
|
|
|
8740 |
TNFSF14 |
LIGHT |
19p13.3 |
LTg,
TR2, HVEML, LIGHT |
HVEM (14), LT-bR (3),
DcR3 (6B) |
604520 |
CD8 T cell and APC costimulation, |
inflammation, T cell
hyperactivation Th1 bias |
defective CD8 T cell costimulation |
|
|
9966 |
TNFSF15 |
TL1A |
9q32 |
TL1,
TL1A, VEGI |
DR3 (25) |
604052 |
Recently identified ligand for DR3
(TNFRSF25) |
|
Blockade impairs T Cell-mediated immunopathology |
|
|
8995 |
TNFSF18 |
GITR Ligand |
1q23 |
TL6,
AITRL, GITRL, hGITRL |
GITR (18) |
603898 |
T cell costimulation (+)CD25(+) regulatory
T cells |
|
|
|
|
1896 |
ED1 |
ectodermal dysplasia 1, anhidrotic (EDA1) |
X |
EDA,
HED, EDA1, XHED, XLHED |
EDAR |
305100 |
Tooth, hair and Sweat gland
formation |
|
|
X-LINKED ECTODERMAL DYSPLASIA |
|
LocusLink
ID |
Symbol |
Common Name(s) |
Position |
Aliases |
Binds to Ligand(s) |
OMIMID |
Key Functions |
Phenotype associated with
deficiency |
Human
Genetic Diseases |
|
7132 |
TNFRSF1A |
tumor
necrosis factor receptor 1 (TNF-R1) |
12p13.2 |
FPF, p55, p60, TBP1, TNF-R, TNFAR,
TNFR1, p55-R, CD120a, TNFR55, TNFR60, TNF-R-I, TNF-R55, MGC19588 |
TNFa (2), Lta (1) |
191190 |
Mediates TNF-induced inflammation
(and apoptosis in some cells) |
resistance to TNF-induced
artrhritis models, resistant to endotoxic shock, Increased sensitivity to
bacterial pathogens |
Periodic
fever syndrome(TRAPS)associated with heterozygous extracellular mutaions |
|
7133 |
TNFRSF1B |
tumor necrosis factor receptor 2
(TNF-R2) |
1p36.3-p36.2 |
p75, TBPII, TNFBR, TNFR2, CD120b,
TNFR80, TNF-R75, p75TNFR, TNF-R-II |
TNFa (2), Lta (1) |
191191 |
May enhance pro-apoptotic effect of
TNFR1 |
still susceptible to TNF-induced
arthritis models, defective CD8(+) T cell apoptosis after restimulation, Increased sensitivity to bacterial
pathogens |
|
|
4055 |
TNFRSF3 |
lymphotoxin beta receptor |
12p13 |
LTBR, CD18, TNFCR, TNFR-RP,
TNFRSF3, TNFR2-RP, LT-BETA-R, TNF-R-III |
LIGHT (14), LTb (3) |
600979 |
lymphoid organ formation |
No LN, PP, defective GC formation |
|
|
7293 |
TNFRSF4 |
OX40 |
1p36 |
OX40, ACT35, CD134, TXGP1L |
OX40L (4) |
600315 |
T cell costimulation |
Defective CD4 T cell responses |
|
|
958 |
TNFRSF5 |
CD40 |