1. Gene
  2. CRBN - cereblon Gene

CRBN - cereblon Gene

中文名称:大脑

种属: Homo sapiens

同用名: MRT2; MRT2A

基因 ID: 51185 | 基因类型: protein coding

关于 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.

功能概要

该基因编码与 Lon 蛋白酶蛋白家族相关的蛋白质。在啮齿类动物和其他哺乳动物中,这种基因产物存在于细胞质中,钙通道膜蛋白定位于此,并被认为在大脑发育中发挥作用。该基因的突变与常染色体隐性非综合征性认知障碍有关。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
20223979 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of Wnt signaling pathway IMP
IMP: 通过突变表型推断
34489457 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
20223979 GOA
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
20223979 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Cul4A-RING E3 ubiquitin ligase complex IDA
IDA: 通过直接分析推断
20223979 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
20223979 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20223979 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CRBN 蛋白结构

LON_substr_bdg

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 442 a.a.
蛋白主名 其他名称

protein cereblon

protein x 0001

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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