TABLE 1: TNF superfamily Ligands

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

TABLE 2: TNF superfamily Receptors

LocusLink ID	Symbol	Common Name(s)	Position	Aliases	Binds to Ligand(s)	OMIM ID	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	20q12-q13.2	p50, Bp50, CD40, CDW40, MGC9013	CD40L (5)	109535	Costimulation and differentiation of B cells and APC	Defective Ig class switching and germinal center formation	Autosomal hyper-IgM syndrome associated with loss-of function mutations
355	TNFRSF6	Fas, CD95	10q24.1	FAS, APT1, CD95, APO-1	FasL (6)	134637	Apoptosis of restimulated CD4 T cells, B cells, ?others	Defective apoptosis of restimulated CD4(+) T cells	Autoimmune Lymphoproliferative Syndrome (ALPS) associated with heterozygous dominat-interfering mutations
8771	TNFRSF6B	Decoy Receptor 3	20q13.3	M68, TR6, DCR3, DJ583P15.1.1	FasL (6), TL1A (15), LIGHT (14)	603361	Soluble decoy receptor for FasL, LIGHT, and TL1A. May have a role in tumor immune evasion
939	TNFRSF7	CD27	12p13	T14, CD27, S152, Tp55, MGC20393	CD27L (7)	186711	T cell costimulation	Defective T cell responses
943	TNFRSF8	CD30	1p36	CD30, KI-1, D1S166E	CD30L (8)	153243	? Inhibition of CD8 T cell effector function
3604	TNFRSF9	4-1BB, CD137	1p36	ILA, 4-1BB, CD137, CDw137, MGC2172	4-1BBL (9)	602250	T cell costimulation	Defective CD8 T cell responses
8797	TNFRSF10A	Death Receptor 4 (DR4)	8p21	DR4, APO2, MGC9365, TRAILR1, TRAILR-1	TRAIL (10)	603611	Mediator of dendritic cell and tumor cell apoptosis
8795	TNFRFRSF10B	Death Receptor 5 (DR5)	8p22-p21	DR5, KILLER, TRICK2, TRICKB, ZTNFR9, TRAILR2, TRICK2A, TRICK2B, TRAIL-R2, KILLER/DR5	TRAIL (10)	603612	Mediator of dendritic cell and tumor cell apoptosis
8794	TNFRSF10C	Decoy Receptor 1	8p22-p21	LIT, DCR1, TRID, TRAILR3	TRAIL (10)	603613	GPI-linked Decoy receptor, interferes with TRAIL function
8793	TNFRSF10D	Decoy Receptor 2	8p21	DCR2, TRUNDD, TRAILR4	TRAIL (10)	603614	Transmembrane decoy receptor, interferes with TRAIL function
8792	TNFRSF11A	(Receptor activator of NF-kappa B) RANK	18q22.1	OFE, ODFR, PDB2, RANK, TRANCER	RANKL (11)	603499	mediates DC costimulation and osteoclast maturation and activation	Osteopetrosis due to osteoclast deficiency, no lymph nodes, impaired B cell development
4982	TNFRSF11B	Osteoprotegerin (OPG)	8q24	OPG, TR1, OCIF, MGC29565	TRAIL (10), RANKL (11)	602643	Soluble decoy receptor for RANK	osteoporosis, arterial calcification
51330	TNFRSF12A	TWEAK-receptor	16p13.3	FN14, TWEAKR	TWEAK (12)	605914
8791	TNFRSF12L	tumor necrosis factor receptor superfamily, member 12-like	1p36.2	DR3-Like				T cell hyperactivation, increased susceptibility to restimulation-induced apoptosis

TABLE 2: TNF superfamily Receptors, continued

LocusLink ID	Symbol	Common Name(s)	Position	Aliases	Binds to Ligand(s)	OMIM ID	Key Functions	Phenotype associated with deficiency	Human Genetic Diseases
23495	TNFRSF13B	TACI	17p11.2	TACI	APRIL (13), BAFF (13B)	604907	May inhibit some of the pro-survival effects of BAFF-R	Decreased TI-2 B cell responses, but B cell hyperplasia and autoimmunity
115650	TNFRSF13C	BAFF receptor (BAFF-R)	22q13.1-q13.31	BAFF/BLyS receptor 3	BAFF (13B)	606269		Impaired survival of immature transitional B cells
8764	TNFRSF14	Herpes Virus Entry Mediator (HVEM)	1p36.3-p36.2	TR2, ATAR, HVEA, HVEM, LIGHTR	LIGHT (14), Herpesviruses	602746
4804	TNFRSF16	NGF-R	17q21-q22	TNFRSF16, p75(NTR)	NGF (not a TNF family member)	162010	NGF receptor - evolutionary outlier as NGF not classical TNF family molecule	Defective sensory neuron innervation; impaired heat sensitivity
608	TNFRSF17	B cell maturation antigen (BCMA)	16p13.1	BCM	APRIL (13), BAFF (13B)	109545		apparently no B cell phenotype
8784	TNFRSF18	Glucocorticoid-induced TNF receptor (GITR)	1p36.3	AITR, GITR, GITR-D	GITRL (18)	603905	T cell costimulation, marker for CD4(+)CD25(+) Treg cells, modulates Treg function	T cell hyperactivation
55504	TNFRSF19	Toxicity and JNK inducer (TAJ)	13q12.11-q12.3	TROY, TRADE, TAJ-alpha		606122	similar to EDAR, expressed in skin and brain
84957	TNFRSF19L	RELT	11q13.3	RELT, FLJ14993			possible T cell costimulator
27242	TNFRSF21	Death Receptor 6 (DR6)	6p21.1-12.2	DR6, BM-018		605732	negative regulator B and T cell responses	enhanced T and B cell activation
94098	TNFRSF22	tumor necrosis factor receptor superfamily, member 22	11p15.5	SOBa, Tnfrh2, 2810028K06Rik
94099	TNFRSF23	tumor necrosis factor receptor superfamily, member 23	11p15.5	mSOB, Tnfrh1
8718	TNFRSF25	Death Receptor 3 (DR3)	1p36.2	DR3, TR3, DDR3, LARD, APO-3, TRAMP, WSL-1, WSL-LR, TNFRSF12	TL1A (15)	603366		?impaired thymic negative selection
10913	EDAR	ectodysplasin 1, anhidrotic receptor	2q11-q13	DL, ED3, ED5, ED1R, EDA3, EDA-A1R	E1	604095	tooth, hair, sweat gland formation	abnormal tooth, hair, and sweat gland formation	Ectodermal Dysplasia
60401	XEDAR	XEDAR: ectodysplasin A2 isoform receptor	Xq12	EDAA2R, EDA-A2R	EDA-A2	300276

KEY

Receptors in italics have a C-terminal Death Domain

Locuslink ID: Gene “homepage” curated by NCBI. Go To http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene and type the locuslink ID in the search window

OMIM: ID in the Online Mendelian Inheritance in Man Database. Go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM and type in the OMIM ID in the search window

Abbreviations: LN: Lymph Node, PP: Peyer’s Patch, GC: Germinal Center