2. Gene
  3. BEAN1 - brain expressed associated with NEDD4 1 Gene

BEAN1 - brain expressed associated with NEDD4 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：脑表达与 NEDD4 1 相关

种属: Homo sapiens

同用名: BEAN; SCA31

基因 ID: 146227 | 基因类型: protein coding

关于 BEAN1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:66,427,295-66,495,288 (from NCBI)

This gene has 9 transcripts (splice variants), 85 orthologues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

由该基因编码的蛋白质是与 NEDD4 相互作用的几种蛋白质之一，NEDD4 是泛素-蛋白质连接酶家族的成员。这些蛋白质具有与 NEDD4 的 WW 结构域结合的共同 PY 基序。 NEDD4 受发育调控，在胚胎组织中高度表达。该基因的突变 (即，内含子插入 >100 个拷贝的五核苷酸重复序列，包括 (TGGAA) n 序列) 与 31 型脊髓小脑性共济失调相关。已发现该基因编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2010 年 5 月]

The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

BEAN1 基因产物(3)

mRNA Protein Name
NM_001136106.5 NP_001129578.1 protein BEAN1 isoform 2
NM_001178020.3 NP_001171491.1 protein BEAN1 isoform 1
NM_001197224.4 NP_001184153.1 protein BEAN1 isoform 4
蛋白主名 其他名称

protein BEAN1

brain-expressed protein associating with Nedd4 homolog

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 31

Spinocerebellar Ataxia Type 31

SCA31

Spinocerebellar Ataxia 16q22-Linked

Spinocerebellar Ataxia, 16q22-Linked

Pure Spinocerebellar Ataxia Japanese Type

Sca4 Pure Japanese Type

Ataxia, Spinocerebellar, Type 31
Epilepsy, Familial Adult Myoclonic, 7

FAME7

Bafme7

Fcmte7

Benign Adult Familial Myoclonic Epilepsy 7

Cortical Myoclonic Tremor With Epilepsy, Familial, 7

Familial Adult Myoclonic Epilepsy 7

Familial Cortical Myoclonic Tremor And Epilepsy 7

Benign Adult Familial Myoclonic Epilepsy 27

Epilepsy, Myoclonic, Familial Adult, Type 7
Epilepsy, Familial Adult Myoclonic, 6

FAME6

Benign Adult Familial Myoclonic Epilepsy 6

Bafme6

Fcmte6

Cortical Myoclonic Tremor With Epilepsy, Familial, 6

Familial Adult Myoclonic Epilepsy 6

Familial Cortical Myoclonic Tremor And Epilepsy 6

Epilepsy, Myoclonic, Familial Adult, Type 6
Epilepsy, Familial Adult Myoclonic, 3

FAME3

Fcmte3

Cortical Myoclonic Tremor With Epilepsy, Familial, 3

Familial Adult Myoclonic Epilepsy 3

Familial Cortical Myoclonic Tremor And Epilepsy 3

Epilepsy, Myoclonic, Familial Adult, Type 3
Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome
Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Spinocerebellar Ataxia 10

Spinocerebellar Ataxia Type 10

SCA10

Spinocerebellar Ataxia-10

Ataxia, Spinocerebellar, Type 10
Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9
Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2
Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
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

相关产品

Pre-clinical Phase
生物活性分子 (8)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-W012998 2,3-Pentanedione Chemical 99.39% 否
HY-116056 16-O-Methylcafestol / 否
HY-135738 Convicine / 否
HY-RS01462 BEAN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-126118 Dienochlor / 否
HY-N6745S Citreoviridin-13C23 / 否
HY-W012185A (-)-Sparteine hydroiodide / 否
HY-W050154S Kojic acid-13C6 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus BEAN1 VGNC VGNC:55036
Felis catus BEAN1 VGNC VGNC:60098
Canis familiaris BEAN1 VGNC VGNC:38427
Macaca mulatta BEAN1 VGNC VGNC:104682
Mus musculus BEAN1 MGD MGI:1929597
Rattus norvegicus BEAN1 RGD RGD:1562003
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