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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	868
Gene name	Cbl proto-oncogene B
Gene symbol	CBLB
Synonyms (NCBI Gene)	ADMIO3Cbl-bNbla00127RNF56
Chromosome	3
Chromosome location	3q13.11
Summary	This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response

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miRTarBase ID	miRNA	Experiments	Reference
MIRT719554	hsa-miR-151a-5p	HITS-CLIP	19536157
MIRT719553	hsa-miR-151b	HITS-CLIP	19536157
MIRT719552	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719551	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719550	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT719549	hsa-miR-4635	HITS-CLIP	19536157
MIRT719548	hsa-miR-3150b-3p	HITS-CLIP	19536157
MIRT719547	hsa-miR-4784	HITS-CLIP	19536157
MIRT719546	hsa-miR-765	HITS-CLIP	19536157
MIRT719545	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719544	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT719543	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT659794	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT659793	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT659792	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT659791	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT659789	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT659790	hsa-miR-3977	HITS-CLIP	23824327
MIRT659788	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT731259	hsa-miR-891b	Luciferase reporter assayqRT-PCRWestern blot	27494897
MIRT731259	hsa-miR-891b	Luciferase reporter assayqRT-PCRWestern blot	27494897
MIRT736560	hsa-miR-181a-5p	Luciferase reporter assayWestern blottingqRT-PCR	32612385
MIRT719554	hsa-miR-151a-5p	HITS-CLIP	19536157
MIRT719553	hsa-miR-151b	HITS-CLIP	19536157
MIRT719552	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719551	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719550	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT719549	hsa-miR-4635	HITS-CLIP	19536157
MIRT719548	hsa-miR-3150b-3p	HITS-CLIP	19536157
MIRT719547	hsa-miR-4784	HITS-CLIP	19536157
MIRT719546	hsa-miR-765	HITS-CLIP	19536157
MIRT719545	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719544	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT719543	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT659794	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT659793	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT659792	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT659791	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT659789	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT659790	hsa-miR-3977	HITS-CLIP	23824327
MIRT659788	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT1546209	hsa-miR-1253	CLIP-seq
MIRT1546210	hsa-miR-27a	CLIP-seq
MIRT1546211	hsa-miR-27b	CLIP-seq
MIRT1546212	hsa-miR-3121-5p	CLIP-seq
MIRT1546213	hsa-miR-3973	CLIP-seq
MIRT1546214	hsa-miR-4422	CLIP-seq
MIRT1546215	hsa-miR-513a-5p	CLIP-seq
MIRT1546216	hsa-miR-520g	CLIP-seq
MIRT1546217	hsa-miR-520h	CLIP-seq
MIRT1546218	hsa-miR-580	CLIP-seq
MIRT1546213	hsa-miR-3973	CLIP-seq
MIRT1546214	hsa-miR-4422	CLIP-seq
MIRT1546216	hsa-miR-520g	CLIP-seq
MIRT1546217	hsa-miR-520h	CLIP-seq
MIRT2193971	hsa-miR-1257	CLIP-seq
MIRT2193972	hsa-miR-1285	CLIP-seq
MIRT2193973	hsa-miR-223	CLIP-seq
MIRT2193974	hsa-miR-3187-5p	CLIP-seq
MIRT2193975	hsa-miR-3611	CLIP-seq
MIRT2193976	hsa-miR-3654	CLIP-seq
MIRT2193977	hsa-miR-3661	CLIP-seq
MIRT2193978	hsa-miR-4277	CLIP-seq
MIRT1546214	hsa-miR-4422	CLIP-seq
MIRT2193979	hsa-miR-4535	CLIP-seq
MIRT2193980	hsa-miR-4694-3p	CLIP-seq
MIRT2193981	hsa-miR-4697-3p	CLIP-seq
MIRT2193982	hsa-miR-4712-3p	CLIP-seq
MIRT2193983	hsa-miR-492	CLIP-seq
MIRT2193984	hsa-miR-539	CLIP-seq
MIRT2193985	hsa-miR-548c-3p	CLIP-seq
MIRT2193986	hsa-miR-581	CLIP-seq
MIRT2193987	hsa-miR-612	CLIP-seq
MIRT2193988	hsa-miR-631	CLIP-seq
MIRT2446252	hsa-miR-1323	CLIP-seq
MIRT2446253	hsa-miR-548ac	CLIP-seq
MIRT2446254	hsa-miR-548ae	CLIP-seq
MIRT2446255	hsa-miR-548aj	CLIP-seq
MIRT2446256	hsa-miR-548am	CLIP-seq
MIRT2446257	hsa-miR-548d-3p	CLIP-seq
MIRT2446258	hsa-miR-548o	CLIP-seq
MIRT2446259	hsa-miR-548x	CLIP-seq
MIRT2446260	hsa-miR-548z	CLIP-seq
MIRT1546210	hsa-miR-27a	CLIP-seq
MIRT1546211	hsa-miR-27b	CLIP-seq
MIRT2497313	hsa-miR-30a	CLIP-seq
MIRT2497314	hsa-miR-30b	CLIP-seq
MIRT2497315	hsa-miR-30c	CLIP-seq
MIRT2497316	hsa-miR-30d	CLIP-seq
MIRT2497317	hsa-miR-30e	CLIP-seq
MIRT2497318	hsa-miR-3607-3p	CLIP-seq
MIRT1546213	hsa-miR-3973	CLIP-seq
MIRT1546214	hsa-miR-4422	CLIP-seq
MIRT2497319	hsa-miR-4776-3p	CLIP-seq
MIRT1546215	hsa-miR-513a-5p	CLIP-seq
MIRT1546216	hsa-miR-520g	CLIP-seq
MIRT1546217	hsa-miR-520h	CLIP-seq
MIRT2497320	hsa-miR-548ag	CLIP-seq
MIRT2497321	hsa-miR-548ai	CLIP-seq
MIRT2497322	hsa-miR-548g	CLIP-seq
MIRT2497323	hsa-miR-624	CLIP-seq
MIRT2193973	hsa-miR-223	CLIP-seq
MIRT1546210	hsa-miR-27a	CLIP-seq
MIRT1546211	hsa-miR-27b	CLIP-seq
MIRT2497313	hsa-miR-30a	CLIP-seq
MIRT2497314	hsa-miR-30b	CLIP-seq
MIRT2497315	hsa-miR-30c	CLIP-seq
MIRT2497316	hsa-miR-30d	CLIP-seq
MIRT2497317	hsa-miR-30e	CLIP-seq
MIRT2497318	hsa-miR-3607-3p	CLIP-seq
MIRT1546213	hsa-miR-3973	CLIP-seq
MIRT1546214	hsa-miR-4422	CLIP-seq
MIRT2193981	hsa-miR-4697-3p	CLIP-seq
MIRT2497319	hsa-miR-4776-3p	CLIP-seq
MIRT1546215	hsa-miR-513a-5p	CLIP-seq
MIRT1546216	hsa-miR-520g	CLIP-seq
MIRT1546217	hsa-miR-520h	CLIP-seq
MIRT2497320	hsa-miR-548ag	CLIP-seq
MIRT2497321	hsa-miR-548ai	CLIP-seq
MIRT2497322	hsa-miR-548g	CLIP-seq
MIRT2497323	hsa-miR-624	CLIP-seq
MIRT2677462	hsa-miR-944	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0002669	Process	Positive regulation of T cell anergy	IEA
GO:0002870	Process	T cell anergy	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10022120, 12177062, 12577067, 16189514, 16228008, 17020880, 17255943, 18680311, 19268472, 19380743, 19815501, 20598684, 20936779, 21706016, 21900206, 22158902, 23663663, 25218436, 25416956, 25814554, 26871637, 27107012, 28514442, 29237719, 29513927, 29997244, 31467278, 31515488, 319
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0006607	Process	NLS-bearing protein import into nucleus	TAS	7784085
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	TAS	7784085
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	7784085
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0023051	Process	Regulation of signaling	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035739	Process	CD4-positive, alpha-beta T cell proliferation	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0042110	Process	T cell activation	IEA
GO:0045121	Component	Membrane raft	IBA
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA
GO:0140252	Process	Regulation protein catabolic process at postsynapse	IEA
GO:2000562	Process	Negative regulation of CD4-positive, alpha-beta T cell proliferation	IEA
GO:2000583	Process	Regulation of platelet-derived growth factor receptor-alpha signaling pathway	IEA
GO:2000583	Process	Regulation of platelet-derived growth factor receptor-alpha signaling pathway	ISS

MIM	HGNC	e!Ensembl
604491	1542	ENSG00000114423

Q13191

Protein name

E3 ubiquitin-protein ligase CBL-B (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene b) (RING finger protein 56) (RING-type E3 ubiquitin transferase CBL-B) (SH3-binding protein CBL-B) (Signal transduction protein CBL-B)

Protein function

E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell

PDB

2AK5 , 2BZ8 , 2DO6 , 2J6F , 2JNH , 2LDR , 2OOA , 2OOB , 3PFV , 3VGO , 3ZNI , 8GCY , 8QNG , 8QNH , 8QNI , 8QTG , 8QTH , 8QTJ , 8QTK , 8VW4 , 8VW5 , 9FQH , 9FQI , 9FQJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02262	Cbl_N	41 → 167	CBL proto-oncogene N-terminal domain 1	Domain
PF02761	Cbl_N2	171 → 254	CBL proto-oncogene N-terminus, EF hand-like domain	Domain
PF02762	Cbl_N3	256 → 341	CBL proto-oncogene N-terminus, SH2-like domain	Domain
PF14447	Prok-RING_4	373 → 426		Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, heart, lung, kidney, spleen, ovary and testis, as well as fetal brain and liver and hematopoietic cell lines, but not in adult brain, liver, pancreas, salivary gland, or skeletal muscle. Present in lymphocytes (a

Sequence

MANSMNGRNPGGRGGNPRKGRILGIIDAIQDAVGPPKQAAADRRTVEKTWKLMDKVVRLC
QNPKLQLKNSPPYILDILPDTYQHLRLILSKYDDNQKLAQLSENEYFKIYIDSLMKKSKR
AIRLFKEGKERMYEEQSQDRRNLTKLSLIFSHMLAEIKAIFPNGQFQGDNFRITKADAAE
FWRKFFGDKTIVPWKVFRQCLHEVHQISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLF
QPWGSILRNWNFLAVTHPGYMAFLTYDEVKARLQKYSTKPGSYIFRLSCTRLGQWAIGYV
TGDGNILQTIPHNKPLFQALIDGSREGFYLYPDGRSYNPDLTGLCEPTPHDHIKVTQEQY
ELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTAWQESDGQGCPFCRCEIKGTEP
IIVDPFDPRDEGSRCCSIIDPFGMPMLDLDDDDDREESLMMNRLANVRKCTDRQNSPVTS
PGSSPLAQRRKPQPDPLQIPHLSLPPVPPRLDLIQKGIVRSPCGSPTGSPKSSPCMVRKQ
DKPLPAPPPPLRDPPPPPPERPPPIPPDNRLSRHIHHVESVPSRDPPMPLEAWCPRDVFG
TNQLVGCRLLGEGSPKPGITASSNVNGRHSRVGSDPVLMRKHRRHDLPLEGAKVFSNGHL
GSEEYDVPPRLSPPPPVTTLLPSIKCTGPLANSLSEKTRDPVEEDDDEYKIPSSHPVSLN
SQPSHCHNVKPPVRSCDNGHCMLNGTHGPSSEKKSNIPDLSIYLKGDVFDSASDPVPLPP
ARPPTRDNPKHGSSLNRTPSDYDLLIPPLGEDAFDALPPSLPPPPPPARHSLIEHSKPPG
SSSRPSSGQDLFLLPSDPFVDLASGQVPLPPARRLPGENVKTNRTSQDYDQLPSCSDGSQ
APARPPKPRPRRTAPEIHHRKPHGPEAALENVDAKIAKLMGEGYAFEEVKRALEIAQNNV
EVARSILREFAFPPPVSPRLNL

Sequence length

982

Interactions

View interactions

	KEGG		Reactome
	ErbB signaling pathway Ubiquitin mediated proteolysis Endocytosis C-type lectin receptor signaling pathway T cell receptor signaling pathway Insulin signaling pathway Measles		Antigen processing: Ubiquitination & Proteasome degradation

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune disease, multisystem, infantile-onset, 3	Pathogenic	rs2546956921, rs535219619, rs2152826353	RCV003237385 RCV003237386 RCV003237387	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPNEUMONIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CBLB-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	not provided; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CBLB (Cbl proto-oncogene B)