CRBN - cereblon Gene

Also Known as MRT2; MRT2A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51185

About CRBN

Cytogenetic location: 3p26.2 Genomic coordinates (GRCh38): 3:3,149,633-3,179,717 (from NCBI)

This gene has 14 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 17.6), brain (RPKM 16.5) and 25 other tissues.

Summary

This gene encodes a protein related to the Lon protease protein family. In rodents and Other mammals this gene product is found in the cytoplasm localized with a Calcium Channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

CRBN Products (4)

mRNA Protein Name
NM_001173482.1 NP_001166953.1 protein cereblon isoform 2
NM_016302.4 NP_057386.2 protein cereblon isoform 1
NM_001173482.1 NP_001166953.1 protein cereblon isoform 2
NM_016302.4 NP_057386.2 protein cereblon isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20223979 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
34489457 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
20223979 GOA
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
20223979 GOA
Cellular Component GO Annotation Evidence References Source
part of Cul4A-RING E3 ubiquitin ligase complex IDA
IDA: Inferred from direct assay
20223979 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
20223979 GOA
located in nucleus IDA
IDA: Inferred from direct assay
20223979 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRBN Protein Structure

LON_substr_bdg

LON_substr_bdg: ATP-dependent protease La (LON) substrate-binding domain (80 - 317)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
Protein Preferred Names Protein Names

protein cereblon

  • protein x 0001

CRBN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CRBN Q96SW2 CSNK1A1 Homo sapiens P48729 26909574
Intra
CRBN Q96SW2 CSNK1A1 Homo sapiens P48729 26131937
Intra
CRBN Q96SW2 CSNK1A1 Homo sapiens P48729 26131937
Intra
CRBN Q96SW2 DDB1 Homo sapiens Q16531 26909574
Intra
CRBN Q96SW2 DDB1 Homo sapiens Q16531 26131937
Intra
CRBN Q96SW2 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
CRBN Q96SW2 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
CRBN Q96SW2 PMP22 Homo sapiens A0A6Q8PF08 32814053
Intra
CRBN Q96SW2 PAK5 Homo sapiens Q9P286 31515488
Intra
CRBN Q96SW2 PAK5 Homo sapiens Q9P286 25416956
Intra
CRBN Q96SW2 PAK5 Homo sapiens Q9P286 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

CRBN Antibodies

Cat. No. Product Name Application Reactivity
HY-P86823 CRBN Antibody (YA6516) WB, IHC-P, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 2
  • Mental Retardation, Autosomal Recessive 2a

  • MRT2

  • Mental Retardation, Autosomal Recessive 2

  • Mrt2a

  • Autosomal Recessive Intellectual Developmental Disorder 2

  • Mental Retardation, Autosomal Recessive, Type 2

Autosomal Recessive Non-Syndromic Intellectual Disability
  • Ar-Nsid

  • Ns-Arid

Plasma Cell Neoplasm
  • Plasma Cell Dyscrasia

  • Paraproteinemias

  • Plasma Cell Tumour

  • Plasmacytic Tumor

  • Multiple Myeloma

  • Plasmacytoma

  • Plasma Cell Tumours

  • Plasma Cells Dyscrasia

Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Erythema Nodosum
Duane-Radial Ray Syndrome
  • Okihiro Syndrome

  • DRRS

  • Dr Syndrome

  • Duane Anomaly With Radial Ray Abnormalities And Deafness

  • Acrorenoocular Syndrome

  • Acrorenocular Syndrome

  • Duane Anomaly With Radial Abnormalities And Deafness

  • Acro-Renal-Ocular Syndrome

Chromosome 3pter-P25 Deletion Syndrome
  • 3p- Syndrome

  • 3p Deletion Syndrome

  • Distal Monosomy 3p

  • Chromosome 3, Monosomy 3p

  • 3p Partial Monosomy Syndrome

  • Chromosome 3, Deletion 3p

  • Chromosome 3p Deletion Syndrome

  • Del Syndrome

  • Deletion 3p

  • Monosomy 3p

  • Partial Monosomy 3p

  • Distal 3p Deletion

  • Monosomy 3pter

  • Telomeric Monosomy 3p

  • Chromosome Deletion Syndrome 3pter-P25

Autosomal Recessive Intellectual Developmental Disorder
  • Mental Retardation, Autosomal Recessive

  • Autosomal Recessive Mental Retardation

  • Autosomal Recessive Non-Syndromic Mental Retardation

  • Autosomal Recessive Non-Syndromic Intellectual Disability

Non-Secretory Myeloma
Smoldering Myeloma
Bone Marrow Cancer
  • Malignant Neoplasm Of Bone Marrow

  • Bone Marrow Neoplasm

  • Bone Marrow Tumor

  • Malignant Bone Marrow Tumor

  • Myeloproliferative Disorders

  • Bone Marrow Neoplasms

  • Myeloproliferative Disease

  • Chronic Myeloproliferative Disorder

Monoclonal Gammopathy Of Uncertain Significance
  • Monoclonal Gammopathy Of Undetermined Significance

  • Mgus

  • Mgus - [Monoclonal Gammopathy Of Undetermined Significance]

  • Monoclonal Gammopathy Nos

  • Iga Gammopathy

  • Monoclonal Gammoglobulinopathy

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Leukocyte Disease
  • Leukocyte Disorders

Leprosy 3
  • Leprosy

  • Leprosy, Susceptibility To, 3

  • Hansen'S Disease

  • Leprosy, Susceptibility To

  • Hansen Disease

  • Infection Due To Mycobacterium Leprae

  • LPRS3

  • Leprosy, Type 3

  • Anaesthesia Leprosy

  • Anaesthetic Leprosy

  • Maculoanaesthetic Leprosy

  • Macular Leprosy

  • Leprosy Unspecified

Mantle Cell Lymphoma
  • Lymphoma, Mantle Cell

  • Lcm

  • Mcl

  • Mantle Zone Lymphoma

  • Lymphoma Mantle-Cell

  • Lymphoma, Mantle-Cell

  • Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

  • Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

  • Diffuse Small Cleaved-Cell Lymphoma

  • Diffuse Small Cleaved Cell Malignant Lymphoma

  • Small Cleaved Cell Non-Hodgkin Lymphoma

  • Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

  • Malignant Lymphomatous Polyposis

  • Malignant Small Cell, Noncleaved, Diffuse Lymphoma

  • Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

  • Cleaved Cell Lymphoma

  • Small Cell Mantle Cell Lymphoma

  • Small Cleaved Cell Malignant Lymphoma

Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CRBN VGNC VGNC:71607
Felis catus CRBN VGNC VGNC:61162
Rattus norvegicus CRBN RGD RGD:1310533
Canis familiaris CRBN VGNC VGNC:108241
Bos taurus CRBN VGNC VGNC:27690
Mus musculus CRBN MGD MGI:1913277
Others CRBN NCBI