Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7293
Gene name	TNF receptor superfamily member 4
Gene symbol	TNFRSF4
Synonyms (NCBI Gene)	ACT35CD134IMD16OX40TXGP1L
Chromosome	1
Chromosome location	1p36.33
Summary	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777075	G>A	Pathogenic	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001618	Function	Virus receptor activity	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	ISS
GO:0005031	Function	Tumor necrosis factor receptor activity	IBA
GO:0005031	Function	Tumor necrosis factor receptor activity	IEA
GO:0005031	Function	Tumor necrosis factor receptor activity	TAS	7737295
GO:0005515	Function	Protein binding	IPI	16905106
GO:0005886	Component	Plasma membrane	TAS	7510240
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	TAS	7510240
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0016020	Component	Membrane	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	ISS
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042098	Process	T cell proliferation	ISS
GO:0046718	Process	Symbiont entry into host cell	IEA

MIM	HGNC	e!Ensembl
600315	11918	ENSG00000186827

P43489

Protein name

Tumor necrosis factor receptor superfamily member 4 (ACT35 antigen) (OX40L receptor) (TAX transcriptionally-activated glycoprotein 1 receptor) (CD antigen CD134)

Protein function

Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity. ; (Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B. {ECO:0000269|PubMed:23674671}

PDB

1D0A , 2HEV , 2HEY , 6OGX , 6OKM , 6OKN , 7YK4 , 8AG1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00020	TNFR_c6	31 → 64	TNFR/NGFR cysteine-rich region	Domain
PF00020	TNFR_c6	67 → 107	TNFR/NGFR cysteine-rich region	Domain
PF00020	TNFR_c6	128 → 166	TNFR/NGFR cysteine-rich region	Domain

Sequence

MCVGARRLGRGPCAALLLLGLGLSTVTGLHCVGDTYPSNDRCCHECRPGNGMVSRCSRSQ
NTVCRPCGPGFYNDVVSSKPCKPCTWCNLRSGSERKQLCTATQDTVCRCRAGTQPLDSYK
PGVDCAPCPPGHFSPGDNQACKPWTNCTLAGKHTLQPASNSSDAICEDRDPPATQPQETQ
GPPARPITVQPTEAWPRTSQGPSTRPVEVPGGRAVAAILGLGLVLGLLGPLAILLALYLL
RRDQRLPPDAHKPPGGGSFRTPIQEEQADAHSTLAKI

Sequence length

277

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction		TNFs bind their physiological receptors

299

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs34108055	RCV005914030
Combined immunodeficiency due to OX40 deficiency	Uncertain significance; no classifications from unflagged records; Likely benign; Benign; Conflicting classifications of pathogenicity	rs774777119, rs777266991, rs1649106016, rs372412045, rs587777075, rs776902723, rs1402575779, rs377530517, rs748879803, rs1164078859, rs757761946, rs368736683, rs1649243786, rs777345366, rs2100949704 View all (234 more)	RCV001314038 RCV001316210 RCV001342158 RCV001338788 RCV000082860 RCV001374090 RCV001370802 RCV001369578 RCV001359682 RCV001364527 RCV001397983 RCV001394161 RCV001400619 RCV001411924 RCV001418454 RCV001440153 RCV001464091 RCV001464879 RCV001476851 RCV001498298 RCV001490215 RCV001500330 RCV001486303 RCV001519359 RCV001518517 RCV001512290 RCV001512227 RCV001523364 RCV001520583 RCV001838901 RCV001997399 RCV001986556 RCV001902760 RCV001978674 RCV002004886 RCV001970684 RCV001881418 RCV001996477 RCV002016618 RCV001908406 RCV001987664 RCV001999286 RCV001940351 RCV001962229 RCV001947240 RCV001915768 RCV001910457 RCV001989804 RCV002020446 RCV001903039 RCV001977698 RCV001901215 RCV001887289 RCV001915144 RCV001974381 RCV001893505 RCV001972262 RCV001968642 RCV002040395 RCV002046192 RCV001913397 RCV001913149 RCV002003313 RCV001945004 RCV001993494 RCV001909049 RCV001906510 RCV001975539 RCV001902243 RCV001992648 RCV001982154 RCV001984629 RCV001873887 RCV002022406 RCV001956612 RCV001890731 RCV001963558 RCV002142052 RCV002126690 RCV002157965 RCV002109979 RCV002190576 RCV002195194 RCV002124639 RCV002124709 RCV002192697 RCV002083814 RCV002139669 RCV002089613 RCV002181575 RCV002106101 RCV002097943 RCV002208636 RCV002114618 RCV002112010 RCV002119416 RCV002119838 RCV002172637 RCV002215191 RCV002095370 RCV002218633 RCV002189399 RCV002133690 RCV002201521 RCV002143059 RCV002090794 RCV002099725 RCV003052881 RCV003058705 RCV003076706 RCV003068633 RCV003060604 RCV003091326 RCV003084428 RCV003084453 RCV003092039 RCV002611138 RCV002611028 RCV002615827 RCV002651166 RCV002572139 RCV002586847 RCV002594674 RCV002617444 RCV002715887 RCV002700719 RCV002715816 RCV002740358 RCV002727228 RCV002761654 RCV002761335 RCV002801004 RCV002802122 RCV002811522 RCV002801139 RCV002819513 RCV002851703 RCV002853483 RCV002852879 RCV002912865 RCV002933213 RCV002948224 RCV002974852 RCV002943407 RCV003009291 RCV002968084 RCV003033380 RCV003038193 RCV003026839 RCV003042436 RCV003040316 RCV003051641 RCV003745550 RCV003583411 RCV003583347 RCV003583367 RCV003583602 RCV003583482 RCV003583533 RCV003583611 RCV003583478 RCV003583495 RCV003583684 RCV003583685 RCV003583714 RCV003583759 RCV003583865 RCV003583867 RCV003583779 RCV003583781 RCV003583816 RCV003583880 RCV003583881 RCV003583804 RCV003583960 RCV003583898 RCV003583993 RCV003583920 RCV003745741 RCV003745628 RCV003745954 RCV003744101 RCV003745960 RCV003744142 RCV003744158 RCV003744195 RCV003744465 RCV003743108 RCV003743104 RCV003744456 RCV003744491 RCV003743329 RCV003743360 RCV003743511 RCV003743400 RCV003743448 RCV003745117 RCV003745279 RCV003745167 RCV003745261 RCV003815959 RCV003819004 RCV003820401 RCV003833898 RCV003867430 RCV003873799 RCV003871746 RCV003869821 RCV001516769 RCV000556703 RCV000537491 RCV000544166 RCV000531541 RCV000559880 RCV000651958 RCV000651957 RCV000651959 RCV000694602 RCV000689630 RCV000705942 RCV000703839 RCV000701380 RCV000794483 RCV000819790 RCV000813719 RCV000809370 RCV000811263 RCV000815467 RCV000807184 RCV000821371 RCV000810307 RCV000816564 RCV000793166 RCV000967639 RCV002066408 RCV001451150 RCV000886977 RCV000879033 RCV000891796 RCV000899635 RCV000905382 RCV000902911 RCV000907088 RCV001494340 RCV000913536 RCV000913794 RCV000940151 RCV001431943 RCV001444461 RCV001456911 RCV001459072 RCV001058976 RCV001059919 RCV001035985 RCV001052159 RCV001038436 RCV001060936 RCV001065548 RCV001054037 RCV001048845 RCV001065495 RCV001222055 RCV001222743 RCV001223899 RCV001207773 RCV001212990 RCV001207182 RCV001212948 RCV001211423 RCV001232398 RCV001235752 RCV001241805 RCV001246435 RCV001239027 RCV001246071 RCV001295684 RCV001300620 RCV001299889 RCV001308874
Gastric cancer	Benign	rs34108055	RCV005914033
Lung cancer	Benign	rs34108055	RCV005914037
Lymphoma	Benign	rs34108055	RCV005914034
Malignant lymphoma, large B-cell, diffuse	Benign	rs34108055	RCV005914032
Malignant tumor of esophagus	Benign	rs34108055	RCV005914029
Ovarian cancer	Benign	rs34108055	RCV005914031
Thymoma	Benign	rs34108055	RCV005914036
TNFRSF4-related disorder	Likely benign; Uncertain significance; Benign	rs879206506, rs2521758307, rs764549972, rs35304565, rs150220682, rs144102157	RCV003903324 RCV003419033 RCV003966497 RCV003915623 RCV003905934 RCV003933021
Uterine carcinosarcoma	Benign	rs34108055	RCV005914035
Uterine corpus endometrial carcinoma	Benign	rs34108055	RCV005914038

Show/Hide Text Mining Associations (116)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	18362907
Acute Coronary Syndrome	Associate	21445270, 22282196
Adenocarcinoma	Associate	34133324
Adenocarcinoma Mucinous	Associate	23382860
Arthritis Rheumatoid	Associate	16367941, 19886735
Asthma	Associate	20139223
Atherosclerosis	Associate	21445270
Autoimmune Diseases	Associate	22870213, 30944836
Bile Duct Neoplasms	Associate	28053236
Breast Neoplasms	Associate	23502335, 28537889, 31292534
Brittle cornea syndrome 1	Associate	34973500
Bronchiectasis	Inhibit	40536885
Bronchiolitis Obliterans Syndrome	Stimulate	11698307
Bronchiolitis Obliterans Syndrome	Associate	15327522, 23607447, 37742913
Carcinoma Hepatocellular	Associate	36148160, 36591653, 37861541
Carcinoma Non Small Cell Lung	Associate	31843013, 34518312
Carcinoma Pancreatic Ductal	Associate	35936015
Carcinoma Renal Cell	Associate	35279104
Carcinoma Squamous Cell	Associate	27034329
Carotid Artery Diseases	Associate	22870213
CD59 Deficiency	Associate	16367941
Cerebrovascular Disorders	Associate	28796044
Chromosome 1p36 Deletion Syndrome	Inhibit	18511345
Colitis Ulcerative	Stimulate	10562584
Colorectal Neoplasms	Associate	26439988
Colorectal Neoplasms	Stimulate	33527196
Communicable Diseases	Associate	24771328
Complex Regional Pain Syndromes	Associate	31217010
Conjunctivitis Allergic	Stimulate	38064228
Coronary Disease	Stimulate	28796044
COVID 19	Associate	38408318
Crohn Disease	Stimulate	10562584
Cytomegalovirus Infections	Associate	18410894
Dementia	Associate	37085545
Dentin dysplasia sclerotic bones	Associate	37742913
Dermatitis Atopic	Associate	30738171
Dermatitis Atopic	Inhibit	32176307
Diabetes Mellitus	Inhibit	20529823
Diabetes Mellitus	Stimulate	28796044
Diabetes Mellitus Type 1	Associate	31467932, 35626661
Disease	Stimulate	31292534
Drug Related Side Effects and Adverse Reactions	Associate	20529823, 27856634
Endometrial Neoplasms	Associate	34158412
Eosinophilia	Associate	20139223
Gastritis	Associate	33777009
Gastrointestinal Stromal Tumors	Associate	29526824
Glioblastoma	Associate	30353265
Graft vs Host Disease	Associate	10516610, 15327522, 16367941
Graft vs Host Disease	Stimulate	16792671
Graft vs Host Disease	Inhibit	18410894
Graves Ophthalmopathy	Associate	35896115
Hidradenitis Suppurativa	Associate	38049071
HIV Infections	Associate	10337023, 28892135
HIV Infections	Inhibit	24522925
Hodgkin Disease	Associate	21239696
Hypertension	Stimulate	28796044
Hypertriglyceridemia	Associate	23216302
Hypertriglyceridemic Waist	Associate	23216302
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	20653937
Immune System Diseases	Associate	10337023
Immunoglobulin G4 Related Disease	Associate	33936071
Infections	Associate	28892135
Inflammation	Associate	10562584, 20139223, 22282196, 26755473, 32176307, 33777009
Inflammatory Bowel Diseases	Associate	10562584
Irritable Bowel Syndrome	Associate	10562584
Leukemia	Associate	15536147, 20713459, 37554265, 9108415
Leukemia Lymphoma Adult T Cell	Associate	10861060, 9108415
Leukemia Myeloid Acute	Associate	30300827, 30500073, 36151238
Lupus Erythematosus Systemic	Stimulate	16879242, 29058308
Lupus Erythematosus Systemic	Associate	20653937, 21245596, 22870213, 25098715, 26070486, 30568041, 31331400
Lupus Nephritis	Stimulate	16879242, 23896866
Lupus Nephritis	Associate	20653937, 21245596, 31331400
Lymphoma	Stimulate	10233901
Lymphoma Follicular	Associate	24771328
Lymphoma Large B Cell Diffuse	Associate	10233901
Lymphoma Large Cell Anaplastic	Associate	12958063
Lymphoma T Cell	Associate	10233901
Lymphoma T Cell Cutaneous	Associate	34830466
Lymphoma T Cell Peripheral	Associate	10233901
Melanoma	Associate	23113766
Melanoma	Inhibit	36100891
Multiple Sclerosis	Associate	23226199
Myasthenia Gravis	Stimulate	16367941
Myasthenia Gravis	Associate	35265719
Mycosis Fungoides	Associate	34830466
Myelodysplastic Syndromes	Inhibit	27902785
Neoplasm Metastasis	Associate	27034329
Neoplasms	Associate	10233901, 11346458, 15536147, 22870213, 26439988, 27034329, 27856634, 29661166, 30300827, 31722750, 31843013, 32111794, 33527196, 34552823, 34615725 View all (5 more)
Neoplasms	Inhibit	36100891
Neoplasms	Stimulate	39849872
Nephritis	Associate	16879242
Neuroblastoma	Associate	37130627
Ovarian Neoplasms	Associate	29661166
Pancreatic Neoplasms	Associate	37024802
Plaque Atherosclerotic	Associate	22282196, 26755473
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	33648458
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30300827
Prostatic Hyperplasia	Associate	26993768
Psoriasis	Associate	30747724
Purpura Thrombocytopenic Idiopathic	Stimulate	30944836
Sarcoma	Associate	32923153, 35558159
Sarcoma Kaposi	Associate	23897980
Scleroderma Systemic	Associate	37742913
Sezary Syndrome	Associate	34830466
Small Cell Lung Carcinoma	Associate	34552823
Squamous Cell Carcinoma of Head and Neck	Associate	32304268, 33134377, 35945754, 39282247, 39549431, 39849872
Stomach Neoplasms	Associate	32203221
Tertiary Lymphoid Structures	Associate	9108415
Thymoma	Associate	35265719
Thymus Hyperplasia	Stimulate	16367941
Triple Negative Breast Neoplasms	Associate	37924153
Tuberculosis	Associate	33008839, 37809012
Tuberculosis Pleural	Associate	37809012
Uterine Cervical Neoplasms	Associate	39201462
Virus Diseases	Associate	11346458
Wilms Tumor	Associate	18410894

TNFRSF4 (TNF receptor superfamily member 4)