Cbl MGI Mouse Gene Detail - MGI:88279 - Casitas B-lineage lymphoma

Symbol

Cbl
Name

Casitas B-lineage lymphoma
Synonyms

4732447J05Rik, Cbl-2, c-Cbl

Feature Type

protein coding gene
IDs

MGI:88279
NCBI Gene: 12402
Alliance

gene page
Transcription Start Sites

15 TSS

Sequence Map

Chr9:44054273-44145346 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 24.72 cM
Mapping Data

22 experiments

SNPs within 2kb

1785 from dbSNP Build 142
Strain Annotations

18
RFLP

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88279	protein coding gene	Chr9:44054273-44145556 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0034694	protein coding gene	Chr9:42606886-42705763 (-)
A/J	MGP_AJ_G0034675	protein coding gene	Chr9:41437899-41524460 (-)
AKR/J	MGP_AKRJ_G0034601	protein coding gene	Chr9:42291375-42381788 (-)
BALB/cJ	MGP_BALBcJ_G0034666	protein coding gene	Chr9:41181987-41270285 (-)
C3H/HeJ	MGP_C3HHeJ_G0034377	protein coding gene	Chr9:42745337-42834184 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035187	protein coding gene	Chr9:43879994-43976971 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032102	protein coding gene	Chr9:41021990-41107118 (-)
CAST/EiJ	MGP_CASTEiJ_G0033699	protein coding gene	Chr9:42584326-42672763 (-)
CBA/J	MGP_CBAJ_G0034349	protein coding gene	Chr9:45475234-45569607 (-)
DBA/2J	MGP_DBA2J_G0034508	protein coding gene	Chr9:41341903-41427846 (-)
FVB/NJ	MGP_FVBNJ_G0034449	protein coding gene	Chr9:40591336-40676305 (-)
LP/J	MGP_LPJ_G0034589	protein coding gene	Chr9:42909853-43003442 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034493	protein coding gene	Chr9:47336239-47429808 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035208	protein coding gene	Chr9:42190511-42280329 (-)
PWK/PhJ	MGP_PWKPhJ_G0033405	protein coding gene	Chr9:41208394-41298880 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033239	protein coding gene	Chr9:42483992-42595958 (-)
WSB/EiJ	MGP_WSBEiJ_G0033812	protein coding gene	Chr9:42221789-42314366 (-)

Human Ortholog

CBL, Cbl proto-oncogene

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CBL, Cbl proto-oncogene
Synonyms

CBL2, C-CBL, FRA11B, NSLL, RNF55
Links

HGNC:1541

NCBI Gene ID: 867

neXtProt AC: NX_P22681

UniProt: P22681
Chr Location

11q23.3; chr11:119206298-119313926 (+) GRCh38

MGI Vertebrate Homology

Cbl stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CBL
Gene Tree

Cbl

Diseases

5 with human CBL associations

				Human Disease	Mouse Models
				acute myeloid leukemia IDs acute myeloid leukemia DOID:9119 DOID:9118 DOID:9171 ICD10CM:C92.0 ICD9CM:205.0 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 UMLS_CUI:C0023467
				congestive heart failure IDs congestive heart failure DOID:6000 DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MESH:D006333 NCI:C3080 NCI:C50577 UMLS_CUI:C0018801 UMLS_CUI:C0018802
				juvenile myelomonocytic leukemia IDs juvenile myelomonocytic leukemia DOID:0050458 ICD10CM:C93.3 MESH:D054429 NCI:C9233 OMIM:607785 UMLS_CUI:C0349639
				lung non-small cell carcinoma IDs lung non-small cell carcinoma DOID:3908 EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 UMLS_CUI:C0007131
				myeloid neoplasm IDs myeloid neoplasm DOID:0070004

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

49 phenotypes from 5 alleles in 5 genetic backgrounds
49 phenotypes from multigenic genotypes
86 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

27
Endonuclease-mediated

5
Gene trapped

9
Targeted

13
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit increased thymic CD3 and CD4 expression and tyrosine-phosphorylation, lymphoid hyperplasia, and altered splenic hemopoiesis. Females show increased ductal density and branching in mammary fat pads.

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All GO Annotations

97
GO References

27

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

841
Tissues

132
cDNA Data

124
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA CBL

Xenbase cbl

ZFIN cbl

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All Sequences

92
RefSeq

10
UniProt

8
CCDS

CCDS40598.1

Ensembl

ENSMUSG00000034342 (Evidence)
NCBI Gene

12402

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034342	Ensembl Gene Model \| MGI Sequence Detail	91074	C57BL/6J	± kb
transcript	ENSMUST00000206720	Ensembl \| MGI Sequence Detail	11372	Not Applicable
polypeptide	ENSMUSP00000146244	Ensembl \| MGI Sequence Detail	913	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000005070 E3 ubiquitin-protein ligase CBL

(term hierarchy)
PDB

2D9S
EC

2.3.2.27
InterPro Domains

IPR024162 Adaptor protein Cbl

IPR014741 Adaptor protein Cbl, EF hand-like

IPR036537 Adaptor protein Cbl, N-terminal domain superfamily

IPR003153 Adaptor protein Cbl, N-terminal helical

IPR024159 Adaptor protein Cbl, PTB domain

IPR014742 Adaptor protein Cbl, SH2-like domain

IPR011992 EF-hand domain pair

IPR036860 SH2 domain superfamily

IPR009060 UBA-like superfamily

IPR015940 Ubiquitin-associated domain

IPR018957 Zinc finger, C3HC4 RING-type

IPR013083 Zinc finger, RING/FYVE/PHD-type

IPR001841 Zinc finger, RING-type

IPR017907 Zinc finger, RING-type, conserved site
GlyGen

P22682 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 134

Genomic 4

cDNA 124

Primer pair 1

Other 5

Microarray probesets 4

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MGD-MRK-1779, MGD-MRK-1780, MGD-MRK-1782, MGI:2443367

Summaries

All 207

Developmental Gene Expression 8

Gene Ontology 27

Phenotypes 86
Earliest

J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
Latest

J:354878 Li X, et al., Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation. Immunity. 2024 May 12;

TSS for Cbl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr89126	Chr9:44145452-44145461 (-)	-111 bp
Tssr89125	Chr9:44145311-44145314 (-)	33 bp
Tssr89124	Chr9:44145280-44145300 (-)	56 bp
Tssr89123	Chr9:44145224-44145264 (-)	102 bp
Tssr89122	Chr9:44145198-44145209 (-)	142 bp
Tssr89121	Chr9:44144772-44144824 (-)	548 bp
Tssr89120	Chr9:44144631-44144633 (-)	714 bp
Tssr89119	Chr9:44107820-44107853 (-)	37,509 bp
Tssr89118	Chr9:44107790-44107812 (-)	37,545 bp
Tssr89117	Chr9:44107413-44107417 (-)	37,931 bp
Tssr89116	Chr9:44096695-44096698 (-)	48,649 bp
Tssr89115	Chr9:44074717-44074727 (-)	70,624 bp
Tssr89114	Chr9:44059540-44059575 (-)	85,788 bp
Tssr89113	Chr9:44056010-44056030 (-)	89,326 bp
Tssr89112	Chr9:44055824-44055845 (-)	89,511 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24