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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84957
Gene name	RELT TNF receptor
Gene symbol	RELT
Synonyms (NCBI Gene)	AI3CTNFRSF19LTRLT
Chromosome	11
Chromosome location	11q13.4
Summary	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). T

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs762816338	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs772929908	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565222166	A>G	Pathogenic	Splice acceptor variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT495382	hsa-miR-1264	PAR-CLIP	23708386
MIRT495380	hsa-miR-4323	PAR-CLIP	23708386
MIRT495379	hsa-miR-3691-3p	PAR-CLIP	23708386
MIRT495378	hsa-miR-6849-3p	PAR-CLIP	23708386
MIRT495377	hsa-miR-766-3p	PAR-CLIP	23708386
MIRT495376	hsa-miR-4758-3p	PAR-CLIP	23708386
MIRT495375	hsa-miR-6512-3p	PAR-CLIP	23708386
MIRT495374	hsa-miR-6720-5p	PAR-CLIP	23708386
MIRT726773	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726772	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726771	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726770	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT495382	hsa-miR-1264	PAR-CLIP	23708386
MIRT495380	hsa-miR-4323	PAR-CLIP	23708386
MIRT495379	hsa-miR-3691-3p	PAR-CLIP	23708386
MIRT495378	hsa-miR-6849-3p	PAR-CLIP	23708386
MIRT495377	hsa-miR-766-3p	PAR-CLIP	23708386
MIRT495376	hsa-miR-4758-3p	PAR-CLIP	23708386
MIRT495375	hsa-miR-6512-3p	PAR-CLIP	23708386
MIRT495374	hsa-miR-6720-5p	PAR-CLIP	23708386
MIRT1300241	hsa-miR-1184	CLIP-seq
MIRT1300242	hsa-miR-1207-3p	CLIP-seq
MIRT1300243	hsa-miR-1275	CLIP-seq
MIRT1300244	hsa-miR-1276	CLIP-seq
MIRT1300245	hsa-miR-1283	CLIP-seq
MIRT1300246	hsa-miR-1301	CLIP-seq
MIRT1300247	hsa-miR-1915	CLIP-seq
MIRT1300248	hsa-miR-224	CLIP-seq
MIRT1300249	hsa-miR-299-3p	CLIP-seq
MIRT1300250	hsa-miR-3160-3p	CLIP-seq
MIRT1300251	hsa-miR-3184	CLIP-seq
MIRT1300252	hsa-miR-320e	CLIP-seq
MIRT1300253	hsa-miR-3647-3p	CLIP-seq
MIRT1300254	hsa-miR-3680	CLIP-seq
MIRT1300255	hsa-miR-3937	CLIP-seq
MIRT1300256	hsa-miR-423-5p	CLIP-seq
MIRT1300257	hsa-miR-4282	CLIP-seq
MIRT1300258	hsa-miR-4474-3p	CLIP-seq
MIRT1300259	hsa-miR-4491	CLIP-seq
MIRT1300260	hsa-miR-4525	CLIP-seq
MIRT1300261	hsa-miR-4639-3p	CLIP-seq
MIRT1300262	hsa-miR-4646-5p	CLIP-seq
MIRT1300263	hsa-miR-4657	CLIP-seq
MIRT1300264	hsa-miR-4660	CLIP-seq
MIRT1300265	hsa-miR-4665-5p	CLIP-seq
MIRT1300266	hsa-miR-4688	CLIP-seq
MIRT1300267	hsa-miR-4690-3p	CLIP-seq
MIRT1300268	hsa-miR-4691-5p	CLIP-seq
MIRT1300269	hsa-miR-4723-5p	CLIP-seq
MIRT1300270	hsa-miR-4728-5p	CLIP-seq
MIRT1300271	hsa-miR-4731-5p	CLIP-seq
MIRT1300272	hsa-miR-4747-5p	CLIP-seq
MIRT1300273	hsa-miR-486-3p	CLIP-seq
MIRT1300274	hsa-miR-5047	CLIP-seq
MIRT1300275	hsa-miR-520d-5p	CLIP-seq
MIRT1300276	hsa-miR-524-5p	CLIP-seq
MIRT1300277	hsa-miR-548ac	CLIP-seq
MIRT1300278	hsa-miR-548ae	CLIP-seq
MIRT1300279	hsa-miR-548aj	CLIP-seq
MIRT1300280	hsa-miR-548am	CLIP-seq
MIRT1300281	hsa-miR-548d-3p	CLIP-seq
MIRT1300282	hsa-miR-548x	CLIP-seq
MIRT1300283	hsa-miR-548z	CLIP-seq
MIRT1300284	hsa-miR-625	CLIP-seq
MIRT1300285	hsa-miR-637	CLIP-seq
MIRT1300242	hsa-miR-1207-3p	CLIP-seq
MIRT1300243	hsa-miR-1275	CLIP-seq
MIRT2089230	hsa-miR-1908	CLIP-seq
MIRT2089231	hsa-miR-24	CLIP-seq
MIRT2089232	hsa-miR-2467-5p	CLIP-seq
MIRT2089233	hsa-miR-2682	CLIP-seq
MIRT2089234	hsa-miR-28-5p	CLIP-seq
MIRT2089235	hsa-miR-3127-3p	CLIP-seq
MIRT2089236	hsa-miR-3139	CLIP-seq
MIRT1300250	hsa-miR-3160-3p	CLIP-seq
MIRT2089237	hsa-miR-3180	CLIP-seq
MIRT2089238	hsa-miR-3180-3p	CLIP-seq
MIRT1300251	hsa-miR-3184	CLIP-seq
MIRT2089239	hsa-miR-3196	CLIP-seq
MIRT2089240	hsa-miR-3612	CLIP-seq
MIRT1300256	hsa-miR-423-5p	CLIP-seq
MIRT2089241	hsa-miR-4269	CLIP-seq
MIRT2089242	hsa-miR-4283	CLIP-seq
MIRT2089243	hsa-miR-4308	CLIP-seq
MIRT2089244	hsa-miR-4436b-3p	CLIP-seq
MIRT2089245	hsa-miR-4437	CLIP-seq
MIRT2089246	hsa-miR-4443	CLIP-seq
MIRT2089247	hsa-miR-449c	CLIP-seq
MIRT2089248	hsa-miR-4508	CLIP-seq
MIRT1300260	hsa-miR-4525	CLIP-seq
MIRT1300261	hsa-miR-4639-3p	CLIP-seq
MIRT1300265	hsa-miR-4665-5p	CLIP-seq
MIRT1300266	hsa-miR-4688	CLIP-seq
MIRT2089249	hsa-miR-4722-5p	CLIP-seq
MIRT1300269	hsa-miR-4723-5p	CLIP-seq
MIRT1300270	hsa-miR-4728-5p	CLIP-seq
MIRT1300271	hsa-miR-4731-5p	CLIP-seq
MIRT1300273	hsa-miR-486-3p	CLIP-seq
MIRT1300277	hsa-miR-548ac	CLIP-seq
MIRT1300278	hsa-miR-548ae	CLIP-seq
MIRT1300279	hsa-miR-548aj	CLIP-seq
MIRT1300280	hsa-miR-548am	CLIP-seq
MIRT1300281	hsa-miR-548d-3p	CLIP-seq
MIRT1300282	hsa-miR-548x	CLIP-seq
MIRT1300283	hsa-miR-548z	CLIP-seq
MIRT2089250	hsa-miR-596	CLIP-seq
MIRT1300284	hsa-miR-625	CLIP-seq
MIRT1300285	hsa-miR-637	CLIP-seq
MIRT2089251	hsa-miR-650	CLIP-seq
MIRT2089252	hsa-miR-663	CLIP-seq
MIRT2089253	hsa-miR-708	CLIP-seq
MIRT2089254	hsa-miR-744	CLIP-seq
MIRT2089255	hsa-miR-940	CLIP-seq
MIRT2314058	hsa-miR-1285	CLIP-seq
MIRT2314059	hsa-miR-1287	CLIP-seq
MIRT2314060	hsa-miR-3121-5p	CLIP-seq
MIRT2314061	hsa-miR-3187-5p	CLIP-seq
MIRT2314062	hsa-miR-320a	CLIP-seq
MIRT2314063	hsa-miR-320b	CLIP-seq
MIRT2314064	hsa-miR-320c	CLIP-seq
MIRT2314065	hsa-miR-320d	CLIP-seq
MIRT2314066	hsa-miR-3907	CLIP-seq
MIRT2089242	hsa-miR-4283	CLIP-seq
MIRT2314067	hsa-miR-4429	CLIP-seq
MIRT2089244	hsa-miR-4436b-3p	CLIP-seq
MIRT2089248	hsa-miR-4508	CLIP-seq
MIRT1300266	hsa-miR-4688	CLIP-seq
MIRT2314068	hsa-miR-486-5p	CLIP-seq
MIRT2314069	hsa-miR-507	CLIP-seq
MIRT2314070	hsa-miR-557	CLIP-seq
MIRT2314071	hsa-miR-612	CLIP-seq
MIRT2314072	hsa-miR-626	CLIP-seq
MIRT2089235	hsa-miR-3127-3p	CLIP-seq
MIRT2393618	hsa-miR-3173-5p	CLIP-seq
MIRT2458021	hsa-miR-128	CLIP-seq
MIRT2458022	hsa-miR-1910	CLIP-seq
MIRT2458023	hsa-miR-27a	CLIP-seq
MIRT2458024	hsa-miR-27b	CLIP-seq
MIRT2458025	hsa-miR-4722-3p	CLIP-seq
MIRT2458026	hsa-miR-4742-3p	CLIP-seq
MIRT2458021	hsa-miR-128	CLIP-seq
MIRT2458022	hsa-miR-1910	CLIP-seq
MIRT2458023	hsa-miR-27a	CLIP-seq
MIRT2458024	hsa-miR-27b	CLIP-seq
MIRT2458025	hsa-miR-4722-3p	CLIP-seq
MIRT2458026	hsa-miR-4742-3p	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16530727, 22052202
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	16530727, 28688764
GO:0016020	Component	Membrane	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0097186	Process	Amelogenesis	IBA
GO:0097186	Process	Amelogenesis	IEA
GO:0097186	Process	Amelogenesis	IMP	30506946

MIM	HGNC	e!Ensembl
611211	13764	ENSG00000054967

Q969Z4

Protein name

Tumor necrosis factor receptor superfamily member 19L (Receptor expressed in lymphoid tissues)

Protein function

May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946). {ECO:0000269|PubMed:16530

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12606	RELT	163 → 202	Tumour necrosis factor receptor superfamily member 19	Family

Tissue specificity

TISSUE SPECIFICITY: Spleen, lymph node, brain, breast and peripheral blood leukocytes (at protein level) (PubMed:28688764). Expressed highly in bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in kidney and p

Sequence

MKPSLLCRPLSCFLMLLPWPLATLTSTTLWQCPPGEEPDLDPGQGTLCRPCPPGTFSAAW
GSSPCQPHARCSLWRRLEAQVGMATRDTLCGDCWPGWFGPWGVPRVPCQPCSWAPLGTHG
CDEWGRRARRGVEVAAGASSGGETRQPGNGTRAGGPEETAAQYAVIAIVPVFCLMGLLGI
LVCNLLKRKGYHCTAHKEVGPGPGGGGSGINPAYRTEDANEDTIGVLVRLITEKKENAAA
LEELLKEYHSKQLVQTSHRPVSKLPPAPPNVPHICPHRHHLHTVQGLASLSGPCCSRCSQ
KKWPEVLLSPEAVAATTPVPSLLPNPTRVPKAGAKAGRQGEITILSVGRFRVARIPEQRT
SSMVSEVKTITEAGPSWGDLPDSPQPGLPPEQQALLGSGGSRTKWLKPPAENKAEENRYV
VRLSESNLVI

Sequence length

430

Interactions

View interactions

	KEGG
	Cytokine-cytokine receptor interaction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Likely pathogenic	rs2496008939, rs771045558	RCV003482916 RCV003482918	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta, type 3C	Pathogenic	rs772929908, rs762816338, rs1565222166, rs1866200282	RCV000767367 RCV000767368 RCV000767369 RCV001171629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IIIC	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RELT-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	30506946, 31575895		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	30506946, 32052416, 37670079	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	ORPHANET_DG	30506946		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Small Cell	Small cell carcinoma	Pubtator	32052416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37079385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	30506946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	30506946, 37670079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30506946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalcification of dental enamel	Hypocalcification of dental enamel	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic amelogenesis imperfecta	Hypoplastic Amelogenesis Imperfecta	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11313261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34917682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30873760	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RELT (RELT TNF receptor)