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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5971
Gene name	RELB proto-oncogene, NF-kB subunit
Gene symbol	RELB
Synonyms (NCBI Gene)	I-RELIMD53IRELREL-B
Chromosome	19
Chromosome location	19q13.32

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs745463649	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029940	hsa-miR-26b-5p	Microarray	19088304
MIRT1300073	hsa-miR-3662	CLIP-seq
MIRT1300074	hsa-miR-4437	CLIP-seq
MIRT1300075	hsa-miR-4674	CLIP-seq
MIRT2314012	hsa-miR-1913	CLIP-seq
MIRT2314013	hsa-miR-324-3p	CLIP-seq
MIRT2314014	hsa-miR-4313	CLIP-seq
MIRT2314015	hsa-miR-4667-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
ARNT	Unknown	17900530
JUN	Unknown	15596805

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	23729669
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	23729669
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	14743216, 15799966, 21217772, 21988832, 25609649, 28514442, 33961781, 35140242, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22065573
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0017053	Component	Transcription repressor complex	IDA	19158276
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0030098	Process	Lymphocyte differentiation	IMP	26385063
GO:0032688	Process	Negative regulation of interferon-beta production	IMP	22065573
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0034097	Process	Response to cytokine	IBA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IBA
GO:0038061	Process	Non-canonical NF-kappaB signal transduction	IEA
GO:0042088	Process	T-helper 1 type immune response	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043011	Process	Myeloid dendritic cell differentiation	IEA
GO:0045063	Process	T-helper 1 cell differentiation	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045202	Component	Synapse	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	30205516
GO:0048511	Process	Rhythmic process	IEA
GO:0071159	Component	NF-kappaB complex	NAS	30205516
GO:0071470	Process	Cellular response to osmotic stress	IEA

MIM	HGNC	e!Ensembl
604758	9956	ENSG00000104856

Q01201

Protein name

Transcription factor RelB (I-Rel)

Protein function

NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a ho

PDB

8G8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16180	RelB_leu_zip	18 → 104	RelB leucine zipper	Domain
PF00554	RHD_DNA_bind	127 → 295	Rel homology DNA-binding domain	Domain
PF16179	RHD_dimer	304 → 401	Rel homology dimerisation domain	Domain
PF16181	RelB_transactiv	403 → 579	RelB transactivation domain	Domain

Sequence

MLRSGPASGPSVPTGRAMPSRRVARPPAAPELGALGSPDLSSLSLAVSRSTDELEIIDEY
IKENGFGLDGGQPGPGEGLPRLVSRGAASLSTVTLGPVAPPATPPPWGCPLGRLVSPAPG
PGPQPHLVITEQPKQRGMRFRYECEGRSAGSILGESSTEASKTLPAIELRDCGGLREVEV
TACLVWKDWPHRVHPHSLVGKDCTDGICRVRLRPHVSPRHSFNNLGIQCVRKKEIEAAIE
RKIQLGIDPYNAGSLKNHQEVDMNVVRICFQASYRDQQGQMRRMDPVLSEPVYDKKSTNT
SELRICRINKESGPCTGGEELYLLCDKVQKEDISVVFSRASWEGRADFSQADVHRQIAIV
FKTPPYEDLEIVEPVTVNVFLQRLTDGVCSEPLPFTYLPRDHDSYGVDKKRKRGMPDVLG
ELNSSDPHGIESKRRKKKPAILDHFLPNHGSGPFLPPSALLPDPDFFSGTVSLPGLEPPG
GPDLLDDGFAYDPTAPTLFTMLDLLPPAPPHASAVVCSGGAGAVVGETPGPEPLTLDSYQ
APGPGDGGTASLVGSNMFPNHYREAAFGGGLLSPGPEAT

Sequence length

579

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation C-type lectin receptor signaling pathway Human T-cell leukemia virus 1 infection Epstein-Barr virus infection		Dectin-1 mediated noncanonical NF-kB signaling CD209 (DC-SIGN) signaling NIK-->noncanonical NF-kB signaling

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 53	Pathogenic; Likely pathogenic	rs745463649, rs1971589003	RCV000495976 RCV001250212

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Melanoma	Likely benign	rs774125980	RCV005928371
Nonpapillary renal cell carcinoma	Likely benign	rs139280106	RCV005922857
RELB-related disorder	Benign; Likely benign; Uncertain significance	rs199742203, rs1002682627, rs556023428, rs371174510, rs370635437, rs570531651, rs770432794, rs767372545, rs148422079, rs200818596	RCV003910984 RCV003416593 RCV003948840 RCV003978595 RCV003903369 RCV003916521 RCV003418880 RCV003934279 RCV003930529 RCV004756070

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	28589856
Achalasia Addisonianism Alacrimia syndrome	Associate	27764181
Adenocarcinoma	Associate	19502791
Alzheimer Disease	Associate	37386009
Anodontia	Inhibit	38139378
Arthritis Rheumatoid	Associate	10765923, 15743469
Atherosclerosis	Associate	31362988
Autoimmune Diseases	Associate	36402602
Breast Neoplasms	Associate	19433448, 19687301, 21640702, 27764181, 36936167, 9681829
Burkitt Lymphoma	Associate	11027342
Carcinoma Hepatocellular	Associate	27336713
Carcinoma Non Small Cell Lung	Associate	31586084
Carcinoma Ovarian Epithelial	Associate	37175530
Carcinoma Renal Cell	Associate	19252820
Carcinoma Squamous Cell	Inhibit	31128029
Cognition Disorders	Associate	34595235
Colorectal Neoplasms	Associate	16551621, 35487218
COVID 19	Associate	16652313
COVID 19	Stimulate	32698440
Cystitis	Stimulate	25369740
Ectodermal dysplasia hypohidrotic with immune deficiency	Associate	28629746
Esophageal Squamous Cell Carcinoma	Associate	29428966
Gastritis	Stimulate	35089437
Glioma	Associate	39840558
Head and Neck Neoplasms	Associate	30488488
Hearing Loss Sensorineural	Associate	36349665
Heart Defects Congenital	Associate	26044615
Heart Diseases	Associate	35212385
Heart Failure	Associate	34595235
Hematologic Neoplasms	Associate	26909609
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21640702
Hodgkin Disease	Associate	21385932, 22968463, 30941572, 8630409
Hypoxia Brain	Associate	35487218
IgA Vasculitis	Associate	10765923
Immune System Diseases	Associate	27387891
Immunologic Deficiency Syndromes	Associate	36402602
Inflammation	Associate	21640702, 22579587, 24039874, 25831079, 26053099, 27387891, 36402602, 37175530, 37821650, 38139378
Inflammation	Inhibit	25409035
Leukemia Lymphocytic Chronic B Cell	Associate	21062507
Leukemia Lymphocytic Chronic B Cell	Inhibit	25633905
Lymphoma	Associate	21873235
Lymphoma B Cell	Associate	31292115
Lymphoma Large B Cell Diffuse	Associate	21873235, 31109360, 34232979, 37184294
Lymphoma Large Cell Anaplastic	Associate	19131627
Microvascular Angina	Associate	25831079
Multiple Myeloma	Associate	23555623
Myasthenia Gravis	Associate	27387891
N syndrome	Associate	38139378
Nasopharyngeal Neoplasms	Associate	35394843
Neoplasm Metastasis	Inhibit	31612319
Neoplasms	Associate	10640740, 19903458, 21640702, 21873235, 25255445, 27404455, 29921694, 37175530, 39840558
Neurologic Manifestations	Associate	34595235
Pancreatic Neoplasms	Associate	19502791
Prostatic Neoplasms	Associate	16205698, 16261162, 17604335, 18723484, 20371728, 26186215, 28208611, 35742868
Pulmonary Disease Chronic Obstructive	Associate	25409035
Pulmonary Disease Chronic Obstructive	Inhibit	25943190
Schizophrenia	Associate	35027554
Severe Acute Respiratory Syndrome	Associate	19020113
Skin Manifestations	Associate	36402602
Squamous Cell Carcinoma of Head and Neck	Associate	30488488
Stomach Neoplasms	Associate	35936362
Synovial Cyst	Associate	10765923
talaromycosis	Associate	33791233, 36180657
Urinary Bladder Neoplasms	Associate	25369740
Uterine Cervical Neoplasms	Stimulate	31128029
Uveal melanoma	Associate	31612319
Virus Diseases	Associate	29194580
Wounds and Injuries	Associate	25831079

RELB (RELB proto-oncogene, NF-kB subunit)