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CBL Gene

protein-coding GIFtS: 66

GC11P118582

Cas-Br-M (murine) ecotropic retroviral transforming sequence
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CBL2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
C-CBL ^²
CBL2 ^², ³, ⁵
EC 6.3.2.- ^³
RNF55 ^¹, ², ³

Descriptions
Cas-Br-M (murine) ecotropic retroviral transforming sequence ^²
Casitas B-lineage lymphoma proto-oncogene ^³
Proto-oncogene c-CBL ^³
RING finger protein 55 ^³
Signal transduction protein CBL ^³
oncogene CBL2 ^²

External Ids
HGNC: 1541¹
Entrez Gene: 867²
UniProtKB: P22681³
Ensembl: ENSG00000110395⁷

Search outside databases for aliases for CBL gene

Previous GC identifers: GC11M121124 GC11P120588 GC11P119110 GC11P118614

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CBL:

The cbl oncogene was first identified as part of a transforming retrovirus which induces mouse

pre-B and pro-B cell lymphomas. As an adaptor protein for receptor protein-tyrosine kinases, it

positively regulates receptor protein-tyrosine kinase ubiquitination in a manner dependent upon

its variant SH2 and RING finger domains. Ubiquitination of receptor protein-tyrosine kinases

terminates signaling by marking active receptors for degradation. [provided by RefSeq]

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681

Function: Participates in signal transduction in hematopoietic cells. Adapter protein that

functions as a negative regulator of many signaling pathways that start from receptors at the cell

surface. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2

ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by

the proteasome. Recognizes activated receptor tyrosine kinases, including PDGFA, EGF and CSF1, and

terminates signaling

Gene Wiki entry for CBL (Cbl_gene)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CBL gene

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3-qter

CBL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P118582: (about GC identifiers)

Start:	118,582,200 bp from pter
End:	118,684,069 bp from pter
Size:	101,870 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000011.8 NT_033899.7

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681 (See protein sequence)

Recommended Name: E3 ubiquitin-protein ligase CBL

Size: 906 amino acids; 99647 Da

Subunit: Associates with NCK via its SH3 domain. The phosphorylated C-terminus interacts with CD2AP

via its second SH3 domain. Binds to UBE2L3. Interacts with adapters SLA, SLA2 and with the

phosphorylated C-terminus of SH2B2. Interacts with EGFR, SYK and ZAP70 via the highly conserved

Cbl-N region. Also interacts with SORBS1 and INPPL1/SHIP2. Interacts with phosphorylated LAT2. May

interact with CBLB (By similarity)

Subcellular location: Cytoplasm

Miscellaneous: This protein has one functional calcium-binding site

PDB structures from and Proteopedia :

1B47 (3D)

1FBV (3D)

1YVH (3D)

2CBL (3D)

2JUJ (3D)

2OO9 (3D)

3BUM (3D)

3BUN (3D)

3BUO (3D)

3BUW (3D)

3BUX (3D)

Post-translational modifications:

Phosphorylated on tyrosine residues by EGFR, SYK, FYN and ZAP70 (By similarity). Phosphorylated on

tyrosine residues by INSR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_005179.2

ENSEMBL proteins:

ENSP00000264033

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CBL)
	Human Recombinant Proteins from Abnova (CBL)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	EXP	8621719 11823423 14505571
GO:0005886	plasma membrane	IDA	15465819

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Antibodies for CBL:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CBL
	Sigma-Aldrich Antibody Arrays and Antibodies for CBL
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for CBL
	Antibodies from Abcam (CBL), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CBL)
	Novus Biologicals Antibodies for CBL

Assays for CBL:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P22681

ProtoNet protein and cluster: P22681

3 Blocks protein families:

IPB000449 Ubiquitin-associated domain

IPB001841 Zn-finger

IPB003153 Adaptor protein Cbl

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681

Domain: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme

Domain: The N-terminus is composed of the phosphotyrosine binding (PTB) domain, a short linker

region and the RING-type zinc finger. The PTB domain, which is also called TKB (tyrosine kinase

binding) domain, is composed of three different subdomains: a four-helix bundle (4H), a

calcium-binding EF hand and a divergent SH2 domain

Similarity: Contains 1 CBL N-terminal domain

Similarity: Contains 2 EF-hand-like domains

Similarity: Contains 1 RING-type zinc finger

Similarity: Contains 1 SH2 domain

Similarity: Contains 1 UBA domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CBL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CBL)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005188

Applied Biosystems Silencer® siRNAs for CBL

Sigma-Aldrich siRNA and siRNA Panels for CBL

Sigma-Aldrich shRNA Panels and shRNA for CBL

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005188
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005188
untagged cDNA clones in CMV expression vector (see all 2): AK092300

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005188

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681

Function: Participates in signal transduction in hematopoietic cells. Adapter protein that

functions as a negative regulator of many signaling pathways that start from receptors at the cell

surface. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2

ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by

the proteasome. Recognizes activated receptor tyrosine kinases, including PDGFA, EGF and CSF1, and

terminates signaling

Enzyme Number (IUBMB): EC 6.3.2.-

Genatlas biochemistry entry for CBL:

Cas-Br-M (murine) ecotropic retroviral transforming sequence,including a CGG trinucleotide

repeat,abundantly expressed in thymus,acting as a RING-type E2-dependent ubiquitin protein

ligase,binding and stimulating the ubiquitination of PDGFRs,EGFR,CSF1R,also interacting with

signal transduction molecules,key mediator of HCK (hematopoietic cell kinase) induced signaling in

hematopoietic cells

15/22 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Cbl) (see all 22 ):

	adipose tissue	behavior/neurological	cellular	craniofacial
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	TAS	2030914
GO:0004842	ubiquitin-protein ligase activity	TAS	15465819
GO:0004871	signal transducer activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	11891219

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for CBL (Your Favorite Gene powered by Ingenuity) (see all 10 )

14-3-3-mediated Signaling
Clathrin-mediated Endocytosis
Fc&gamma
Protein Ubiquitination Pathway
T Cell Receptor Signaling

GeneDecks CBL for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681

Pathway: Protein modification; protein ubiquitination

Gene Network Central^TM Interacting Genes and Proteins Network for CBL

5/221 Interacting proteins for CBL (P22681^{1, 2} ENSP00000264033³) via UniProtKB, MINT, and/or STRING (see all 221 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH3KBP1	Q96B97², ENSP00000369049³	MINT-6170185 MINT-6170213 MINT-16164 MINT-6170363 MINT-6170454 MINT-6170575 MINT-6170167 MINT-16165 MINT-6170624 MINT-6170443 MINT-6170405 MINT-6170229 MINT-6170469 MINT-16163 MINT-6170430 MINT-6170490 STRING (score=.999)
SPRY2	O43597², ENSP00000366306³	MINT-6539050 MINT-6539113 MINT-6170575 MINT-6539098 MINT-6539601 MINT-6538989 MINT-6538901 MINT-6169721 MINT-6539083 MINT-6170624 MINT-6539143 MINT-6539038 MINT-6539128 MINT-6169688 MINT-6170593 MINT-6539063 STRING (score=.999)
MET	P08581², ENSP00000317272³	MINT-14027 MINT-16046 MINT-6538928 MINT-6539019 MINT-6539423 MINT-6539387 MINT-6539363 MINT-6539411 MINT-6539399 MINT-6539587 MINT-6539435 MINT-6539375 STRING (score=.991)
SPRY4	Q9C004², ENSP00000344967³	MINT-6539615 MINT-6539242 MINT-6539271 MINT-6539257 MINT-6539196 MINT-6539182 MINT-6539167 MINT-6538940 MINT-6538999 STRING (score=.98)
GRB2	P62993², ENSP00000339007³	MINT-65972 MINT-60974 MINT-6169721 MINT-60977 MINT-7040249 MINT-65979 MINT-6539462 MINT-65973 STRING (score=.999)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007166	cell surface receptor linked signal transduction	TAS	15465819
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	15465819
GO:0016567	protein ubiquitination	TAS	15465819
GO:0019941	modification-dependent protein catabolic process	IEA	--
GO:0048260	positive regulation of receptor-mediated endocytosis	TAS	15465819

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CBL
10/20 Novoseek chemical compound relationships for CBL gene (see all 20 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	85.06	504	9210408 (8), 8920860 (7), 10204582 (6), 9535867 (6) (see all 99)
phosphatidylinositol	68.15	71	15581361 (6), 14640702 (5), 7791764 (4), 8612729 (3) (see all 31)
phosphotyrosine	66.33	18	8995358 (2), 9988765 (2), 10490604 (2), 15465819 (1) (see all 11)
piceatannol	62.88	1	12435267 (1)
convulxin	48.50	1	9153205 (1)
wortmannin	37.29	2	9414268 (1)
phosphoinositide	35.02	7	11042121 (2), 10940298 (1), 14530346 (1), 9794375 (1) (see all 5)
proline	24.95	3	9174058 (1), 2030914 (1)
phenylalanine	11.23	3	15001553 (1), 10779765 (1)
leucine	9.96	4	16780420 (1), 2030914 (1), 12842890 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CBL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CBL)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005188

Sigma-Aldrich siRNA and siRNA Panels for CBL

Sigma-Aldrich shRNA Panels and shRNA for CBL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005188

REFSEQ mRNAs for CBL gene:

NM_005188.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005188

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005188
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005188
                                 untagged cDNA clones in CMV expression vector (see all 2): AK092300

Additional cDNA sequence:

AK092300.1 AL832396.1 BC132733.1 BC136463.1 BX648139.1 X57110.1 X69207.1

5 DOTS entries:

DT.453210 DT.120727695 DT.210757 DT.103199 DT.95368792

18 AceView cDNA sequences:

X69207 AW015807 AL110451 BE550582 NM_005188 X57110 AI633902 AA972853

AI206156 BX106739 AI808688 AL712494 AI963960 BG722940 BF801902 BF752017

AW935681 BF894352

highest scoring ESTs for CBL:

AA444140 AI650432 X57110 AA037360 AA037442 AA364460 AA370289 AA379582 AA417102 AA417206

Unigene Cluster for CBL:

Cas-Br-M (murine) ecotropic retroviral transforming sequence

Hs.504096 [show with all ESTs]

Unigene Representative Sequence: NM_005188

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000264033

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CBL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CBL

¹ / ² / ³

15 probe-sets matching CBL gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
68600_at²^{, 3}	U95-D	1	1.00	1.00	0.61	1.10	AI650432	1.00	1.00	1.00	1
55605_at²^{, 3}	U95-B	1	1.00	1.00	0.94	1.39	AA444140	1.00	1.00	1.00	1
47569_at²^{, 3}	U95-B	1	1.00	1.00	0.83	1.34	AL046261	0.80	1.00	0.91	1
34416_at²^{, 3}	U95-A	1	1.00	1.00	0.64	0.46	X57110	1.00	1.00	1.00	1
51017_at²^{, 3}	U95-B	1	1.00	1.00	0.62	0.76	AI807026	0.80	1.00	0.91	1
225231_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI828967	0.80	1.00	0.91	1
229010_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI807026	0.80	1.00	0.91	1
206607_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005188	0.60	1.00	0.82	1
243475_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW502463	0.80	1.00	0.91	1
225234_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AV710415	0.80	1.00	0.91	1
225231_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
229010_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206607_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
243475_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
225234_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CBL for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCTGTAAAAA

SOURCE GeneReport for Unigene cluster: Hs.504096
Expression variation in blood from EXPOLDB for CBL

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CBL gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	CBL¹	--	Cas-Br-M (murine) ecotropic retroviral transforming more	99.78(n) 100(a)	451690 XM_001165648.1 XP_001165648.1
cow (Bos taurus)	CBL¹	--	Cas-Br-M (murine) ecotropic retroviral transforming more	87.25(n) 88.36(a)	527418 XM_605809.3 XP_605809.3
rat (Rattus norvegicus)	Cbl¹	--	Cas-Br-M (murine) ecotropic retroviral transforming more	88.53(n) 93.25(a)	500985 XM_576396.2 XP_576396.2
mouse (Mus musculus)	Cbl^{1, 5}	9 (26.00 cM)⁵	Casitas B-lineage lymphoma^{1, 5}	88.67(n)¹ 93.69(a)¹	12402¹ NM_007619.2¹ NP_031645.2¹ AK028730⁵ AK029826⁵ (see all 18)
chicken (Gallus gallus)	CBL¹	--	Cas-Br-M (murine) ecotropic retroviral transforming more	77.83(n) 86.04(a)	374038 NM_204208.1 NP_989539.1

About this table Species with no ortholog for CBL

ENSEMBL Gene Tree for CBL

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for CBL gene

CBLC² CBLB²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/478 NCBI SNPs in CBL are shown (see all 478 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 118)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2511844^1,2	A,C,F,H,O	118681608(+)	`CTCTTT/CAGACA`	1	--	ut3¹		12	EA NA EU WA	2482
	rs1047417^1,2	A,C,F,H	118677746(+)	`AGTACA/GCACAC`	1	--	ut3¹		9	EA MN EU WA NA	2246
--	rs4938637^1,2	A,C,F,H	118580533(+)	`TTGGTG/AAGTCA`	1	--	ng5¹ tfbs³		4	EU EA WA	412
	rs2509671^1,2	A,C,F,H	118680285(-)	`TCTTGG/TATCCA`	1	--	ut3¹ ese³		4	EU EA WA	412
	rs4938638^1,2	A,C,F,H	118580639(+)	`TGGGAA/GGTGTT`	1	--	ng5¹		8	EU EA WA	836
	rs3829261^1,2	C,F,H	118681709(-)	`GATTTA/GGGCAA`	1	--	ut3¹ ese³		11	NA EU EA WA	978
	rs11243^1,2	C,F,H	118683850(+)	`ACAGAA/GGGTAA`	1	--	ut3¹ ese³		6	MN EU EA WA	790
	rs11217234^1,2	C,F,H	118683148(+)	`TTATCA/GGGTTG`	1	--	ut3¹ ese³		8	EU EA WA NA	636
	rs1052121^1,2	A,F,H	118683260(+)	`TGTGTC/GGAGGA`	1	--	ut3¹ ese³		4	EU EA WA	420
	rs2227988^1,2	C,F,H	118661403(+)	`ACTCAC/TTTCCA`	1	L/F	mis¹ ese³		9	MN EU EA WA	912

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HapMap Linkage Disequilibrium images for CBL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 165360

UniProtKB/Swiss-Prot: CBL_HUMAN, P22681

Can be converted to an oncogenic protein by deletions or mutations that disturb its

ability to down-regulate RTKs

10/16 Novoseek disease relationships for CBL gene (see all 16 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
myeloid leukemia	35.84	1	7545163 (1)
myeloid leukemia chronic	31.45	3	9845379 (1), 12764153 (1), 18235045 (1)
lymphoma	25.25	9	17704644 (1), 14530346 (1), 16289966 (1), 17391982 (1) (see all 7)
wiskott-aldrich syndrome	19.88	2	8810341 (1), 10427990 (1)
acute leukemia	14.23	1	12764153 (1)
leukemia	8.18	5	7545163 (1), 9845379 (1), 18974118 (1), 11684286 (1) (see all 5)
autoimmunity	5.76	1	15032575 (1)
metastasis	3.51	3	14991403 (3)
necrosis	2.23	2	15562428 (1)
inflammation	1.83	1	15032575 (1)

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Human Gene Mutation Database: CBL
Human Genome Epidemiology Navigator: CBL (10 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/452 PubMed articles for CBL gene (see all 452 ):

Coordinated regulation of the tyrosine phosphorylation of Cbl by Fyn and Syk tyrosine kinases. (PubMed id 9535867)^{1, 3, 4} Deckert M.... Liu Y.C. (1998)
APS facilitates c-Cbl tyrosine phosphorylation and GLUT4 translocation in response to insulin in 3T3-L1 adipocytes. (PubMed id 11997497)^{1, 3, 4} Liu J.... Saltiel A.R. (2002)
APS, an adaptor protein containing pleckstrin homology (PH) and Src homology-2 (SH2) domains inhibits the JAK-STAT pathway in collaboration with c-Cbl. (PubMed id 10374881)^{1, 3, 4} Wakioka T....Yoshimura A. (1999)
APS, an adaptor protein containing PH and SH2 domains, is associated with the PDGF receptor and c-Cbl and inhibits PDGF-induced mitogenesis. (PubMed id 9989826)^{1, 3, 4} Yokouchi M.... Yoshimura A. (1999)
The tyrosine kinase negative regulator c-Cbl as a RING-type, E2- dependent ubiquitin-protein ligase. (PubMed id 10514377)^{1, 3, 4} Joazeiro C.A....Liu Y.-C. (1999)
Structure of the amino-terminal domain of Cbl complexed to its binding site on ZAP-70 kinase. (PubMed id 10078535)^{1, 3, 4} Meng W.... Eck M.J. (1999)
Tyrosine phosphorylation of the c-cbl proto-oncogene protein product and association with epidermal growth factor (EGF) receptor upon EGF stimulation. (PubMed id 7657591)^{1, 3, 4} Galisteo M.L.... Schlessinger J. (1995)
The sequences of the human and mouse c-cbl proto-oncogenes show v-cbl was generated by a large truncation encompassing a proline-rich domain and a leucine zipper-like motif. (PubMed id 2030914)^{1, 3, 4} Blake T.J.... Langdon W.Y. (1991)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{3, 4} Beausoleil S.A.... Gygi S.P. (2006)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{3, 4} Rush J.... Comb M.J. (2005)

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Entrez Gene: 867	HGNC: 1541	AceView: CBL	Ensembl:ENSG00000110395	euGenes: HUgn867
ECgene: CBL	H-InvDB: CBL

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for CBL	Genetics and Cytogenetics in Oncology and Haematology

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for CBL:

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CBL Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for CBL

Summaries
for CBL

Genomic Location
for CBL

Proteins
for CBL

Protein Domains/
Families
for CBL

Gene Function
for CBL

Pathways & Interactions
for CBL

Drugs & Compounds
for CBL

Transcripts
for CBL

Expression
for CBL

Orthologs
for CBL

Paralogs
for CBL

SNPs/Variants
for CBL

Disorders & Mutations
for CBL

Medical News
for CBL

Publications
for CBL

Search for CBL

Genome Databases showing CBL

Other Databases showing CBL

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Licensable Technologies
for CBL

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CBL Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor CBL

Summariesfor CBL

Genomic Locationfor CBL

Proteinsfor CBL

Protein Domains/Familiesfor CBL

Gene Functionfor CBL

Pathways & Interactionsfor CBL

Drugs & Compoundsfor CBL

Transcriptsfor CBL

Expression for CBL

Orthologsfor CBL

Paralogsfor CBL

SNPs/Variantsfor CBL

Disorders & Mutationsfor CBL

Medical Newsfor CBL

Publicationsfor CBL

Search for CBL

Genome Databases showing CBL

Other Databases showing CBL

Specialized Databases showing CBL

Licensable Technologiesfor CBL

Servicesfor CBL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CBL

Summaries
for CBL

Genomic Location
for CBL

Proteins
for CBL

Protein Domains/
Families
for CBL

Gene Function
for CBL

Pathways & Interactions
for CBL

Drugs & Compounds
for CBL

Transcripts
for CBL

Expression
for CBL

Orthologs
for CBL

Paralogs
for CBL

SNPs/Variants
for CBL

Disorders & Mutations
for CBL

Medical News
for CBL

Publications
for CBL

Licensable Technologies
for CBL

Services
for CBL